NEURODEVELOPMENT NEXT-GENERATION

SEQUENCING PANELS

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TABLE OF CONTENTS

GENETIC TESTING FOR NEURODEVELOPMENTAL DISEASE 5

GENETICS 5 INDICATIONS 5 TESTING METHODS, SENSITIVITY, AND LIMITATIONS 6 TURNAROUND TIME 8 SPECIMEN AND SHIPPING REQUIREMENTS 8 CUSTOMER SERVICES AND GENETIC COUNSELING 9

THE COMPREHENSIVE EPILEPSY AND AUTISM PANEL 10

THE COMPREHENSIVE EPILEPSY PANEL 32

FOCAL, GENERALIZED, AND MYOCLONIC EPILEPSY SUBPANEL 48

INFANTILE EPILEPSY SUBPANEL 52

MIGRAINE SUBPANEL 56

NEURONAL CEROID LIPOFUSCINOSES SUBPANEL 57

NEURONAL MIGRATION SUBPANEL 58

SYNDROMIC EPILEPSY AND INTELLECTUAL DISABILITY SUBPANEL 61

THE COMPREHENSIVE AUTISM SPECTRUM DISORDER PANEL 67

STAT AUTISM SPECTRUM DISORDER SUBPANEL 80

MICROCEPHALY PANEL 84

REFERENCES 89

DISCLAIMER 108

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Genetic Testing for NEURODEVELOPMENTAL DISEASE

Sema4 offers targeted next-generation sequencing (NGS) for neurodevelopmental conditions such as autism spectrum disorder, Intellectual disability, epilepsy, seizures, brain malformations, and microcephaly. NGS technology is ideal for diagnostic testing of these disorders due to the extreme locus heterogeneity and phenotypic overlap of the genes involved. Our customizable targeted NGS panel uses Agilent SureSelectTM QXT target enrichment and Illumina NovaSeq sequencing to detect pathogenic variants in genes involved in neurodevelopmental disease. Sema4 offers three primary neurodevelopmental panels: 1) the Comprehensive Epilepsy and Autism Panel (401 genes); and 2) the Microcephaly Panel (78). The Comprehensive Epilepsy and Autism Panel includes the Comprehensive Autism Spectrum Disorder (ASD) Panel (228) and the Comprehensive Epilepsy (226) panels. The Comprehensive Autism Spectrum Disorder Panel includes the STAT Autism Panel (30 genes). The Comprehensive Epilepsy Panel includes the Focal, Generalized, and Myoclonic Epilepsy (52), Infantile Epilepsy (58), Migraine (7), Neuronal Migration (22), Neuronal Ceroid Lipofuscinoses (9), and the Syndromic Epilepsy and Intellectual Disability (ID; 93) Subpanels. The Microcephaly Panel includes conditions such as microcephaly, holoprosencephaly, lisencephaly, and other brain malformations for differential diagnosis. These genes were selected for inclusion based on literature review, clinical actionability scores, and comparison with commercially available assays. Further information about these genes and panels is available in the following pages.

Customizable testing is available for ordering a neurodevelopment disease group-specific gene panel. Targeted familial testing for a specific variant is also available. Parental testing is recommended. Sema4 offers whole exome sequencing if needed. Genetic testing may clarify the cause of an individual’s neurodevelopmental disease, provide information on the likelihood of related health issues, and also establish risk to other family members and future generations.

The American College of Medical Genetics (ACMG) recommends that every person with developmental delay, ID, or ASD should receive a chromosomal microarray (CMA) to identify copy number variants (CNVs) that contribute to risk in 10-15% of individuals. Sema4 offers CMA testing as a first-tier test and an ultra-high resolution medical exome array for exon-level CNV detection as an add-on to NGS.

Genetics

The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), -linked (XL), or isolated cases (IC) manner. For genes displaying an AD mode of inheritance, an affected parent carrying the mutated gene has a 50% chance of passing the variant on to an offspring, regardless of gender. Some of these genes are not fully penetrant, meaning that an individual may have a mutated gene but not display any of the signs/symptoms of the disorder. Additionally, these disorders may have variable expressivity indicating that individuals carrying the same pathogenic variant may display differing features and/or differing severity. For diseases with AR inheritance, the risk for a couple who are both carriers to have a child affected with the disease is 25% for each pregnancy. The parents of an affected child are most often obligate carriers (heterozygotes) and each carry one mutant allele (unless a de novo mutation occurs). An X-linked inheritance means that the risk of a male offspring with the disorder will be 50% if the mother carries an XL mutation. Depending on the X- inactivation pattern of the gene, a mother and her daughters may rarely be affected. Although X-linked diseases are normally transmitted from mother to son, transmission of an X-linked mutation will occur from an affected father to each daughter, but will not occur from father to son. An IC mode of inheritance indicates no prior family history.

Indications

1. Clinical status: to confirm a clinical diagnosis in an affected patient, in an individual with unknown status (no screening/evaluation), or in unaffected relatives of an affected patient (all screening/evaluations(s) normal). The purpose of the test may be diagnostic, carrier testing, familial follow-up on a known family variant, or prenatal testing for known variant(s).

2. Treatment: to clarify the cause of an individual’s neurodevelopmental disease, provide information on the likelihood of related health issues, and guide treatment.

3. Family risk: to establish risk to other family members and future generations.

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For patients with a suspected syndrome or disorder, please consider single gene sequencing or associated subpanels prior to ordering the comprehensive panel.

Testing Methods, Sensitivity, and Limitations

Next Generation Sequencing (NGS) (Analytical Detection Rate >95%)

Agilent SureSelectTM QXT technology is used with a custom capture library to target the exonic regions and intron/exon splice junctions of the relevant genes, as well as a number of UTR, intronic or promoter regions that contain previously reported mutations. Samples are pooled and sequenced on the Illumina NovaSeq platform in the Xp workflow, using 100 bp paired- end reads. The sequencing data are analyzed using a custom bioinformatics algorithm designed and validated in-house. In our validation, average coverage was greater than 200X per sample with >99.9% of regions covered at greater than 20X.

The coding exons and splice junctions of the known protein-coding RefSeq genes are assessed for the average depth of coverage (minimum of 20X) and data quality threshold values. Most exons not meeting a minimum of >20X read depth across the exon are further analyzed by Sanger sequencing. Please note that several genomic regions present difficulties in mapping or obtaining read depth >20X. These regions include, but are not limited to, UTRs, promoters, and deep intronic areas. In addition, a mutation(s) in a gene not included on the panel could be present in this patient. The following regions (hg19 coordinates) have been excluded due to lack of amenability to NGS or Sanger sequencing, high GC content, high homology, lack of known clinically significant variants, or overlap with repetitive regions: ALDH7A1 chr5:125907050-125907056, ARX chrX:25031027-25031926, ATP13A2 chr1:17338212-17338244, ATP2A2 chr12:110718408-110718414, ATP6AP2 chrX:40440306-40440365, ATP7A chrX:77269723-77269729, ATP7A chrX:77278955-77279156, ATR chr3:142184699- 142184705, CACNA1H chr16:1203726-1204047, CACNA2D2 chr3:50540637-50540865, CDKN1C chr11:2905888- 2906730, CHRNA7 chr15:32460129-32460670, CHRNA7 chr15:32446096-32446198, COL18A1 chr21:46825134- 46825167, COL18A1 chr21:46825282-46825399, DMD chrX:31897426-31897627, DMD chrX:32668999-32669253, DMD chrX:32644476-32644680, DMD chrX:31627637-31627838, DMD chrX:32460213-32460334, DMD chrX:31219361- 31219367, DMD chrX:31219126-31219287, DMD chrX:32644160-32644321, EHMT1 chr9:140513469-140513512, ELP4 chr11:31703323-31703634, EPM2A chr6:146056322-146056645, FKTN chr9:108368751-108368962, FMR1 chrX:147018844-147019305, GABRD chr1:1950851-1950941, GK chrX:30687487-30687493, HGSNAT chr8:42995524- 42995881, HPRT1 chrX:133625461-133625467, HTRA1 chr10:124221157-124221651, IDS chrX:148584720-148585050, IQSEC2 chrX:53263389-53264377, KRIT1 chr7:91829915-91829921, LAMP2 chrX:119604075-119604081, MAGI2 chr7:77648620-77649304, NFIX chr19:13106640-13106689, NHS chrX:17753589-17753595, NOTCH3 chr19:15311587- 15311727, OTC chrX:38269298-38269509, SCN1B chr19:35521713-35521775, SCN3A chr2:165986438-165986817, SGSH chr17:78193967-78194168, ST3GAL5 chr2:86115935-86116039, SYNGAP1 chr6:33388030-33388119, TBX1 chr22:19748416-19748814, TMLHE chrX:154721184-154721338, TMLHE chrX:154722214-154722372, TMLHE chrX:154722006-154722167, TRIO chr5:14143823-14144002, TUBB2A chr6:3154085-3155190, TUBB2A chr6:3156266- 3156397, TUBB2B chr6:3224973-3226056, VPS13A chr9:79829178-79829419, and ZIC2 chr13:100637565-100637947. The exons contained within these regions will not be reflexed to Sanger sequencing if the mapping quality or coverage is poor due to high sequence homology. Any clinically significant variants identified during testing in these regions are confirmed by a second method and reported. Analysis of SHANK2 and SHANK3 is limited to copy number variants only.

This test will detect variants within the exons and the intron-exon boundaries of the target regions. Variants outside these regions may not be detected, including, but not limited to, UTRs, promoters, and deep intronic areas, or regions that fall into the exceptions mentioned above. This technology may not detect all small insertion/deletions and is not diagnostic for repeat expansions and structural genomic variation. In addition, a mutation(s) in a gene not included on the panel could be present in this patient.

Copy Number Variant Analysis (Analytical Detection Rate >90%)

Large duplications and deletions were called from the relative read depths on an exon-by-exon basis using a custom Exome Hidden Markov Model (XHMM) algorithm. This algorithm is designed to pick up deletions and duplications of two or more exons/probed regions in length. For deletions (2 exons/probed regions), the analytical sensitivity and analytical specificity are >99%. For duplications (2 exons/probed regions), the analytical sensitivity is >80% and analytical specificity is >99%. All reported pathogenic or likely pathogenic deletions and/or duplications were confirmed by a custom aCGH platform, quantitative PCR, and/or MLPA, depending on CNV size and gene content.

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Fragile X CGG Repeat Analysis (Analytical Detection Rate >99%)

Polymerase Chain Reaction (PCR) amplification using Asuragen, Inc. AmplideX® FMR1 PCR reagents followed by capillary electrophoresis for allele sizing is performed. Samples positive for FMR1 CGG repeats in the premutation and full mutation size range are further analyzed by Southern blot analysis to assess the size and methylation status of the FMR1 CGG repeat.

Targeted Genotyping using Agena® MassARRAY® (Analytical Detection Rate >99%)

Targeted genotyping is performed to ensure sample identity quality control and to test complex variants, using multiplex Polymerase Chain Reaction (PCR) and multiplex Single Base Extension (SBE) reaction with Agena® SpectroCHIP® II on a MassARRAY® Analyzer 4 system.

Multiplex Ligation-Dependent Probe Amplification (MLPA) (Analytical Detection Rate >99%)

MLPA® probe sets and reagents from MRC-Holland are used for copy number analysis of specific targets versus known control samples. False positive or negative results may occur due to rare sequence variants in target regions detected by MLPA probes. Analytical sensitivity and specificity of the MLPA method are both 99%. MLPA for Duchenne muscular dystrophy disease (DMD) will only be performed if indicated. For Duchenne muscular dystrophy, the copy numbers of all DMD exons are analyzed. Potentially pathogenic single exon deletions and duplications are confirmed by a second method. Analysis of DMD is performed in association with sequencing of the coding regions.

Exon Array (Confirmation method) (Accuracy >99%)

The customized oligonucleotide microarray (Oxford Gene Technology) is a highly-targeted exon-focused array capable of detecting medically relevant microdeletions and microduplications at a much higher resolution than traditional aCGH methods. Each array matrix has approximately one hundred and eighty thousand 60-mer oligonucleotide probes that cover the entire gene panel. This platform is designed based on human genome NCBI Build 37 (hg19) and the CGH probes are selected to target the exonic regions of 410 genes. This test does not include analysis of ADNP, ATRIP, COMT, CTCF, CYP2B6, CYP2D6, DEPDC5, EEF1A2, GABRB2, GATAD2B, GNAO1, GNB1, GRIK4, HTR2A, KCNA2, KCNB1, KIF2A, MTOR, NECAP1, NPRL2, NPRL3, OPRM1, PURA, SETD5, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A1, SLC35A2, SOX11, STX1B, SZT2, TBR1, TCF12, TCF20, TUBB, TUBB2A, TUBG1, UGT2B15, WAC, ZMYND11, and ZNF407. For the majority of genes there are a minimum of 4 probes per exon. For very large exons, probes are distributed evenly along the exon with 1 probe every 125 bp. In the untargeted backbone regions, this array has one probe every 42kb. All genomic coordinates are reported using human genome NCBI Build 37 (hg19). Copy number aberrations are identified using the Aberration Detection Method-2 (ADM2) algorithm with a sensitivity threshold of 6.0 (Agilent Technologies). The log2 ratio threshold values to detect aberrations are < -0.25 for copy number losses and > 0.25 for copy number gains. Please note that any inconsistencies in the reported biological familial relationships could significantly change the interpretation of these results. For reported CNVs with uncertain clinical significance, continued surveillance of the medical literature for new information is recommended.

The sensitivity of this assay is estimated to be greater than 99% for microdeletions and microduplications in the exonic regions of 410 medically-relevant genes. Variant interpretation and classification is performed based on the American College of Medical Genetics standards and guidelines for the interpretation of sequence variants (Richards et al, 2015). Frequency in control populations is evaluated based on the Exome Aggregation Consortium (ExAC; http://exac.broadinstitute.org/), the Database of Genomic Variants (http://dgv.tcag.ca/dgv/app/home), and 1000 genomes (http://www.1000genomes.org/) databases. Any benign polymorphisms identified during this analysis will not be reported. Variant interpretations, based on current knowledge, may change over time as more information arises.

The following aberrations will NOT be reported and parental studies will NOT be performed: • CNVs that are considered benign based on coverage in the Database of Genomic Variants (DGV; ) and/or our internal laboratory CNV database • Gains or losses of <500 kb that do not include any known genes () • Gains or losses with no known clinical significance (based on gene content and/or coverage in the DGV) • Copy number variation of ADNP, ATRIP, COMT, CTCF, CYP2B6, CYP2D6, DEPDC5, EEF1A2, GABRB2, GATAD2B,

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GNAO1, GNB1, GRIK4, HTR2A, KCNA2, KCNB1, KIF2A, MTOR, NECAP1, NPRL2, NPRL3, OPRM1, PURA, SETD5, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A1, SLC35A2, SOX11, STX1B, SZT2, TBR1, TCF12, TCF20, TUBB, TUBB2A, TUBG1, UGT2B15, WAC, ZMYND11, or ZNF407. • Copy number gains and losses associated with genetic susceptibility, quantitative trait loci, pharmacogenetic alleles, and cancer predisposition • Copy number gains and losses that are < 1.0 Mb in size and that appear to be mosaic by aCGH due to atypical log 2 ratios, unless the affected region is determined to be clinically significant based on gene content and/or coverage in the DGV

The aCGH technology cannot detect balanced rearrangements, such as reciprocal translocations, Robertsonian translocations, inversions and balanced insertions, or imbalances that are below the resolution of this array. This technology will also not detect point mutations or small insertion/deletions below this array’s resolution that cause frameshifts, imprinting defects or other epigenetic mutations, and may not detect low level mosaicism. The failure to detect an alteration at any locus does not exclude the diagnosis of any of the disorders represented on the microarray.

Quantitative PCR (Confirmation method) (Accuracy >99%)

The relative quantification PCR is utilized on a Roche Universal Library Probe (UPL) system, which relates the PCR signal of the target region in one group to another. To test for genomic imbalances, both sample DNA and reference DNA is amplified with primer/probe sets that specific to the target region and a control region with known genomic copy number. Relative genomic copy numbers are calculated based on the standard ∆∆Ct formula.

Sanger Sequencing (Confirmation method) (Accuracy >99%)

Sanger sequencing, as indicated, is performed using BigDye Terminator chemistry with the ABI 3730 DNA analyzer with target specific amplicons. It also may be used to supplement specific guaranteed target regions that fail NGS sequencing due to poor quality or low depth of coverage (<20 reads) or as a confirmatory method for NGS positive results. False negative results may occur if rare variants interfere with amplification or annealing.

Variant Interpretation and Reporting

Variant interpretation and classification was performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants (PMID:25741868). Frequency in control populations were evaluated based on the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/) , and Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/). Potentially pathogenic variants may be confirmed by Sanger sequencing if indicated. Familial samples are only tested for certain variants by Sanger sequencing if indicated. Variants classified as likely benign in the proband were not confirmed by Sanger sequencing. We cannot rule out the possibility that variants classified as uncertain clinical significance may contribute to disease. Any benign polymorphisms identified during this analysis were not reported. Variant interpretations, based on current knowledge, may change over time as more information arises.

Turnaround Time

Results are reported to the referring physician within 10-14 business days (for prenatal samples) and 3-4 weeks (for postnatal samples) from the receipt of the specimen. Please note only targeted analysis is performed for prenatal cases, where the familial gene and mutation(s) are known.

Specimen and Shipping Requirements

Postnatal blood samples: 2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child: 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

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Prenatal Specimens: 2 confluent T-25 flasks of cultured cells (originating from amniotic fluid or chorionic villi) or more than 4 mg of direct CVS tissue, or 15 mL of direct amniotic fluid (AF) as well as 1 lavender-top (EDTA) 5-10mL tube of blood from the pregnant patient and her partner are required. Note: parental blood samples are requested for confirmation studies necessary in some cases; maternal blood is also used for maternal cell contamination studies. Please note, prenatal analysis will only be performed for known parental variants.

Extracted DNA samples: We request 20 µL DNA (50-250 ng/µL) or at minimum require 10 µL DNA (50-250 ng/µL). Causes for rejection include impurities in the test or reference DNA samples, including NaCl or KCl (>40 mM) and other salts, phenol, ethanol, heparin, EDTA (>1.5 mM), and Fe, contaminated DNA, and low concentration of DNA (<20 ng/µL).

Saliva samples: We can accept saliva specimens upon request. Saliva samples should be collected in Oragene DNA (OG- 500) kits by DNA Genotek. Please contact our laboratory to obtain saliva kits.

Cheek swab: 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Tubes of blood, cultured cells, direct CVS, and direct AF should be kept and shipped refrigerated or at room temperature (PLEASE DO NOT FREEZE). Please note that additional samples may be required for exon array studies if ordered.

Customer Services and Genetic Counseling

Include the following with each sample: • Completed and signed test requisition form and informed consent • Billing information or payment (include copy of insurance card) • Contact information for referring physician • Testing to be performed • Indication for testing, patient’s family history, ethnic background and prior relevant test results

Send same day or overnight (check for morning delivery) to:

Sema4 1428 Madison Avenue, Atran Bldg, Room 2-25 New York, NY 10029

Contact: [email protected] Tel: 212-241-7518 Fax: 212-241-0139

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THE COMPREHENSIVE EPILEPSY AND AUTISM PANEL

The Comprehensive Epilepsy and Autism Panel includes 401 genes associated with syndromic and non-syndromic causes of autism spectrum disorder (ASD), intellectual disability, and epilepsy. Given the clinical overlap between these disorders, comprehensive testing allows time- and cost-effective evaluations of multiple conditions. The Comprehensive Epilepsy and Autism Panel (401 genes) includes the Comprehensive Autism Spectrum Disorder Panel (228) and the Comprehensive Epilepsy (226) panels. Epilepsy subpanels include Focal, Generalized, and Myoclonic Epilepsy (52), Infantile Epilepsies (58), Migraine (7), Neuronal Migration (22), Neuronal Ceroid Lipofuscinoses (9), and Syndromic Epilepsy and Intellectual Disability (93) Subpanels. Please see the following sections for detailed descriptions of each of the subgroups.

The Comprehensive Epilepsy and Autism Panel includes the following 401 genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; ABAT 137150 613163: AR GABA-transaminase deficiency AR Comprehensive Epilepsy; Infantile Epilepsy 300100: XLR Adrenoleukodystrophy Comprehensive Epilepsy And Autism; ABCD1 300371 XLR 300100: XLR Adrenomyeloneuropathy, adult Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ACSL4 300157 300387: XLD Mental retardation, XL 63 XLD, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ACY1 104620 609924: AR Aminoacylase 1 deficiency Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy 606854: AR Polymicrogyria, bilateral Comprehensive Epilepsy And Autism; ADGRG1 604110 frontoparietal Comprehensive Epilepsy; Neuronal Migration; AR 615752: Polymicrogyria, bilateral perisylvian Microcephaly 604352: AD ?Febrile seizures, familial, 4 Comprehensive Epilepsy And Autism; 605472: AR Usher syndrome, type 2C ADGRV1 602851 Comprehensive Epilepsy; Focal, Generalized, AD, AR 605472: AR Usher syndrome, type 2C, And Myoclonic Epilepsy GPR98/PDZD7 digenic Comprehensive Epilepsy And Autism; ADNP 611386 615873: AD Helsmoortel-van der Aa syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ADSL 608222 103050: AR Adenylosuccinase deficiency Comprehensive Epilepsy; Infantile Epilepsy; AR Comprehensive Autism Spectrum Disorder 309548: XLR Mental retardation, XL, FRAXE Comprehensive Epilepsy And Autism; AFF2 300806 XLR, XL type Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; AGO1 606228 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; AHI1 608894 608629: AR Joubert syndrome 3 Comprehensive Autism Spectrum Disorder; AR STAT Autism Spectrum Disorder 300816: XLR Combined oxidative phosphorylation deficiency 6 Comprehensive Epilepsy And Autism; AIFM1 300169 XLR, XL 310490: XLR Cowchock syndrome Comprehensive Autism Spectrum Disorder 300614: XLR Deafness, XL 5 Comprehensive Epilepsy And Autism; 271980: AR Succinic semialdehyde Comprehensive Epilepsy; Focal, Generalized, ALDH5A1 610045 AR dehydrogenase deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ALDH7A1 107323 266100: AR Epilepsy, pyridoxine-dependent Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy 300884: XLD ?Congenital disorder of glycosylation, type Is Comprehensive Epilepsy And Autism; ALG13 300776 XLD 300884: XLD Epileptic encephalopathy, early Comprehensive Epilepsy; Infantile Epilepsy infantile, 36 Comprehensive Epilepsy And Autism; AMT 238310 605899: AR Glycine encephalopathy AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; ANK3 600465 615493: AR ?Mental retardation, AR, 37 AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ANKRD11 611192 148050: AD KBG syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 304340: XLR Mental retardation, XL syndromic AP1S2 300629 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL 5 And Intellectual Disability; Comprehensive

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; AP4B1 607245 614066: AR Spastic paraplegia 47, AR AR Comprehensive Autism Spectrum Disorder 613744: AR Spastic paraplegia 51, AR Comprehensive Epilepsy And Autism; AP4E1 607244 AD, AR 184450: AD Stuttering, familial persistent, 1 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; AP4M1 602296 612936: AR Spastic paraplegia 50, AR AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; AP4S1 607243 614067: AR Spastic paraplegia 52, AR AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 608097: AR Periventricular heterotopia with ARFGEF2 605371 Comprehensive Epilepsy; Syndromic Epilepsy AR microcephaly And Intellectual Disability; Microcephaly 300607: XLR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; ARHGEF9 300429 XLR infantile, 8 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; ARID1A 603024 614607: AD Coffin-Siris syndrome 2 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ARID1B 614556 135900: AD Coffin-Siris syndrome 1 AD Comprehensive Autism Spectrum Disorder 308350: XLR Epileptic encephalopathy, early infantile, 1 300215: XL Hydranencephaly with abnormal Comprehensive Epilepsy And Autism; genitalia Comprehensive Epilepsy; Infantile Epilepsy; ARX 300382 300215: XL Lissencephaly, XL 2 XLR, XL Comprehensive Autism Spectrum Disorder; 300419: XLR Mental retardation, XL 29 and STAT Autism Spectrum Disorder; Microcephaly others 309510: XLR Partington syndrome 300004: XL Proud syndrome Comprehensive Epilepsy And Autism; ASPM 605481 608716: AR Microcephaly 5, primary, AR Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability; Microcephaly 606693: AR Kufor-Rakeb syndrome Comprehensive Epilepsy And Autism; ATP13A2 610513 AR 617225: AR Spastic paraplegia 78, AR Comprehensive Autism Spectrum Disorder 104290: AD Alternating hemiplegia of childhood 1 Comprehensive Epilepsy And Autism; ATP1A2 182340 AD 602481: AD Migraine, familial basilar Comprehensive Epilepsy; Migraine 602481: AD Migraine, familial hemiplegic, 2 Comprehensive Epilepsy And Autism; 101900: AD Acrokeratosis verruciformis ATP2A2 108740 Comprehensive Epilepsy; Syndromic Epilepsy AD 124200: AD Darier disease And Intellectual Disability 300423: XLR Mental retardation, XL, Comprehensive Epilepsy And Autism; ATP6AP2 300556 syndromic, Hedera type Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL 300911: XLR ?Parkinsonism with spasticity, XL And Intellectual Disability Comprehensive Epilepsy And Autism; 219200: AR Cutis laxa, AR, type IIA ATP6V0A2 611716 Comprehensive Epilepsy; Syndromic Epilepsy AR 278250: AR Wrinkly skin syndrome And Intellectual Disability 309400: XLR Menkes disease 304150: XLR Occipital horn syndrome Comprehensive Epilepsy And Autism; ATP7A 300011 XLR, XL 300489: XLR Spinal muscular atrophy, distal, Comprehensive Autism Spectrum Disorder XL 3 615268: AR ?Cerebellar ataxia, mental Comprehensive Epilepsy And Autism; ATP8A2 605870 AR retardation, and dysequilibrium syndrome 4 Comprehensive Autism Spectrum Disorder 614564: AD ?Cutaneous telangiectasia and Comprehensive Epilepsy And Autism; ATR 601215 cancer syndrome, familial Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 210600: AR Seckel syndrome 1 And Intellectual Disability; Microcephaly 300448: Alpha-thalassemia myelodysplasia syndrome, somatic Comprehensive Epilepsy And Autism; 301040: XLD Alpha-thalassemia/mental Comprehensive Epilepsy; Syndromic Epilepsy XLD, XLR, ATRX 300032 retardation syndrome And Intellectual Disability; Comprehensive XL 309580: XLR Mental retardation-hypotonic Autism Spectrum Disorder facies syndrome, XL Comprehensive Epilepsy And Autism; AUTS2 607270 615834: AD Mental retardation, AD 26 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 614923: Branched-chain ketoacid Comprehensive Epilepsy; Focal, Generalized, BCKDK 614901 None dehydrogenase kinase deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; BCL11A 606557 617101: AD Dias-Logan syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; BCOR 300485 300166: XLD Microphthalmia, syndromic 2 XLD Comprehensive Autism Spectrum Disorder 211980: Adenocarcinoma of lung, somatic 115150: AD Cardiofaciocutaneous syndrome Colorectal cancer, somatic (3) Comprehensive Epilepsy And Autism; BRAF 164757 613707: AD LEOPARD syndrome 3 Comprehensive Autism Spectrum Disorder; AD Melanoma, malignant, somatic (3) Noonan Syndrome Nonsmall cell lung cancer, somatic (3) 613706: AD Noonan syndrome 7 Comprehensive Epilepsy And Autism; BRWD3 300553 300659: XLR Mental retardation, XL 93 XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; C12ORF57 615140 218340: AR Temtamy syndrome AR Comprehensive Autism Spectrum Disorder 613227: AR Cerebellar ataxia and mental Comprehensive Epilepsy And Autism; CA8 114815 retardation with or without quadrupedal AR Comprehensive Autism Spectrum Disorder locomotion 3 617106: AD Epileptic encephalopathy, early infantile, 42 108500: AD Episodic ataxia, type 2 Comprehensive Epilepsy And Autism; CACNA1A 601011 141500: AD Migraine, familial hemiplegic, 1 AD Comprehensive Epilepsy; Migraine 141500: AD Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 183086: AD Spinocerebellar ataxia 6 Comprehensive Epilepsy And Autism; 611875: Brugada syndrome 3 CACNA1C 114205 Comprehensive Autism Spectrum Disorder; AD 601005: AD Timothy syndrome STAT Autism Spectrum Disorder 611942: {Epilepsy, childhood absence, susceptibility to, 6} Comprehensive Epilepsy And Autism; 611942: {Epilepsy, idiopathic generalized, CACNA1H 607904 Comprehensive Epilepsy; Focal, Generalized, AD susceptibility to, 6} And Myoclonic Epilepsy 617027: AD Hyperaldosteronism, familial, type IV Comprehensive Epilepsy And Autism; CACNA2D2 607082 None Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy 607682: AD {Epilepsy, idiopathic generalized, susceptibility to, 9} Comprehensive Epilepsy And Autism; CACNB4 601949 607682: AD {Epilepsy, juvenile myoclonic, Comprehensive Epilepsy; Focal, Generalized, AD susceptibility to, 6} And Myoclonic Epilepsy 613855: AD Episodic ataxia, type 5 300422: FG syndrome 4 300749: XLD Mental retardation and Comprehensive Epilepsy And Autism; microcephaly with pontine and cerebellar Comprehensive Epilepsy; Syndromic Epilepsy CASK 300172 XLD hypoplasia And Intellectual Disability; Comprehensive 300422: Mental retardation, with or without Autism Spectrum Disorder; Microcephaly nystagmus {Calcium, serum level of} (3) 612899: {Epilepsy idiopathic generalized, susceptibility to, 8} Hypercalciuric hypercalcemia (3) 239200: AR, AD Hyperparathyroidism, Comprehensive Epilepsy And Autism; CASR 601199 neonatal Comprehensive Epilepsy; Focal, Generalized, AD, AR 601198: AD Hypocalcemia, AD And Myoclonic Epilepsy 601198: AD Hypocalcemia, AD, with Bartter syndrome 145980: AD Hypocalciuric hypercalcemia, type I 607785: AD, SM ?Juvenile myelomonocytic leukemia Comprehensive Epilepsy And Autism; CBL 165360 613563: AD Noonan syndrome-like disorder Comprehensive Autism Spectrum Disorder; AD, SM with or without juvenile myelomonocytic Noonan Syndrome leukemia Comprehensive Epilepsy And Autism; CC2D1A 610055 608443: AR Mental retardation, AR 3 AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; CCDC22 300859 300963: XLR Ritscher-Schinzel syndrome 2 XLR Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; 236600: AR Hydrocephalus, congenital, 1 CCDC88C 611204 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 616053: AD ?Spinocerebellar ataxia 40 And Intellectual Disability Comprehensive Epilepsy And Autism; 603284: AD Cerebral cavernous CCM2 607929 Comprehensive Epilepsy; Focal, Generalized, AD malformations-2 And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 300672: XLD Epileptic encephalopathy, early Comprehensive Epilepsy; Infantile Epilepsy; CDKL5 300203 XLD infantile, 2 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly 130650: AD Beckwith-Wiedemann syndrome Comprehensive Epilepsy And Autism; CDKN1C 600856 AD 614732: AD IMAGE syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 615369: AD Epileptic encephalopathy, CHD2 602119 Comprehensive Epilepsy; Infantile Epilepsy; AD childhood-onset Comprehensive Autism Spectrum Disorder 214800: AD CHARGE syndrome Comprehensive Epilepsy And Autism; CHD7 608892 612370: AD Hypogonadotropic hypogonadism AD Comprehensive Autism Spectrum Disorder 5 with or without anosmia Comprehensive Epilepsy And Autism; CHD8 610528 615032: AD {Autism, susceptibility to, 18} AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 610353: AD Epilepsy, nocturnal frontal lobe, CHRNA2 118502 Comprehensive Epilepsy; Focal, Generalized, AD type 4 And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 600513: AD Epilepsy, nocturnal frontal lobe, 1 CHRNA4 118504 Comprehensive Epilepsy; Focal, Generalized, AD 188890: {Nicotine addiction, susceptibility to} And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; CHRNA7 118511 None Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; CHRNB2 118507 605375: Epilepsy, nocturnal frontal lobe, 3 Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy 607628: AD {Epilepsy, idiopathic generalized, susceptibility to, 11} 607628: AD {Epilepsy, juvenile absence, Comprehensive Epilepsy And Autism; CLCN2 600570 susceptibility to, 2} Comprehensive Epilepsy; Focal, Generalized, AD, AR 607628: AD {Epilepsy, juvenile myoclonic, And Myoclonic Epilepsy susceptibility to, 8} 615651: AR Leukoencephalopathy with ataxia Comprehensive Epilepsy And Autism; CLCN4 302910 300114: XLR Mental retardation, XL 49/15 XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; CLN3 607042 204200: AR Ceroid lipofuscinosis, neuronal, 3 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses Comprehensive Epilepsy And Autism; CLN5 608102 256731: AR Ceroid lipofuscinosis, neuronal, 5 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses 601780: AR Ceroid lipofuscinosis, neuronal, 6 Comprehensive Epilepsy And Autism; CLN6 606725 204300: AR Ceroid lipofuscinosis, neuronal, Comprehensive Epilepsy; Neuronal Ceroid AR Kufs type, adult onset Lipofuscinoses 600143: AR Ceroid lipofuscinosis, neuronal, 8 Comprehensive Epilepsy And Autism; CLN8 607837 610003: AR Ceroid lipofuscinosis, neuronal, 8, Comprehensive Epilepsy; Neuronal Ceroid AR Northern epilepsy variant Lipofuscinoses Comprehensive Epilepsy And Autism; 612100: {Autism susceptibility 15} Comprehensive Epilepsy; Focal, Generalized, 610042: AR Cortical dysplasia-focal epilepsy And Myoclonic Epilepsy; Syndromic Epilepsy CNTNAP2 604569 AR syndrome And Intellectual Disability; Comprehensive 610042: AR Pitt-Hopkins like syndrome 1 Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; COL18A1 120328 267750: AR Knobloch syndrome, type 1 AR Comprehensive Epilepsy; Neuronal Migration 611773: AD Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 607595: AD Brain small vessel disease with or Comprehensive Epilepsy And Autism; COL4A1 120130 AD without ocular anomalies Comprehensive Epilepsy; Neuronal Migration 614519: {Hemorrhage, intracerebral, susceptibility to}

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 175780: AD Porencephaly 1 180000: AD ?Retinal arteries, tortuosity of 269160: Schizencephaly 614417: AR, AD Epilepsy, familial temporal Comprehensive Epilepsy And Autism; CPA6 609562 lobe, 5 Comprehensive Epilepsy; Focal, Generalized, AD, AR 614418: AR Febrile seizures, familial, 11 And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy CREBBP 600140 180849: AD Rubinstein-Taybi syndrome 1 AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy And Autism; 254800: AR Epilepsy, progressive myoclonic CSTB 601145 Comprehensive Epilepsy; Focal, Generalized, AR 1A (Unverricht and Lundborg) And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; CTCF 604167 615502: AD Mental retardation, AD 21 AD Comprehensive Autism Spectrum Disorder 114500: Colorectal cancer, somatic 617572: AD Exudative vitreoretinopathy 7 114550: Hepatocellular carcinoma, somatic Comprehensive Epilepsy And Autism; CTNNB1 116806 155255: Medulloblastoma, somatic AD Comprehensive Autism Spectrum Disorder 615075: AD Mental retardation, AD 19 167000: Ovarian cancer, somatic 132600: Pilomatricoma, somatic Comprehensive Epilepsy And Autism; CTSD 116840 610127: AR Ceroid lipofuscinosis, neuronal, 10 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses 614496: AD Pseudohypoaldosteronism, type Comprehensive Epilepsy And Autism; CUL3 603136 AD IIE Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 300354: XLR Mental retardation, XL, CUL4B 300304 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL syndromic 15 (Cabezas type) And Intellectual Disability Comprehensive Epilepsy And Autism; CYP27A1 606530 213700: AR Cerebrotendinous xanthomatosis AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; D2HGDH 609186 600721: AR D-2-hydroxyglutaric aciduria AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 300067: XL Lissencephaly, XL DCX 300121 Comprehensive Epilepsy; Syndromic Epilepsy XL 300067: XL Subcortical laminal heterotopia, XL And Intellectual Disability; Microcephaly Comprehensive Epilepsy And Autism; DDHD2 615003 615033: AR Spastic paraplegia 54, AR AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; XLD, XLR, DDX3X 300160 300958: XLR, XLD Mental retardation, XL 102 Comprehensive Autism Spectrum Disorder XL 617171: AR ?Dyskinesia, seizures, and Comprehensive Epilepsy And Autism; DEAF1 602635 intellectual developmental disorder AD, AR Comprehensive Autism Spectrum Disorder 615828: AD Mental retardation, AD 24 Comprehensive Epilepsy And Autism; 604364: AD Epilepsy, familial focal, with DEPDC5 614191 Comprehensive Epilepsy; Focal, Generalized, AD variable foci 1 And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; DHCR7 602858 270400: AR Smith-Lemli-Opitz syndrome Comprehensive Autism Spectrum Disorder; AR STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy And Autism; DIS3L2 614184 267000: AR Perlman syndrome AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; DKC1 300126 305000: XLR Dyskeratosis congenita, XL XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; DLG3 300189 300850: XLR Mental retardation, XL 90 XLR, XL Comprehensive Autism Spectrum Disorder 300376: XLR Becker muscular dystrophy Comprehensive Epilepsy And Autism; DMD 300377 302045: XL Cardiomyopathy, dilated, 3B XLR, XL Comprehensive Autism Spectrum Disorder 310200: XLR Duchenne muscular dystrophy Comprehensive Epilepsy And Autism; 162350: AD Ceroid lipofuscinosis, neuronal, 4, DNAJC5 611203 Comprehensive Epilepsy; Neuronal Ceroid AD Parry type Lipofuscinoses 616346: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; DNM1 602377 AD infantile, 31 Comprehensive Epilepsy; Infantile Epilepsy 601626: Acute myeloid leukemia, somatic Comprehensive Epilepsy And Autism; DNMT3A 602769 AD 615879: AD Tatton-Brown-Rahman syndrome Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 615859: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; DOCK7 615730 AR infantile, 23 Comprehensive Epilepsy; Infantile Epilepsy 274270: AR Dihydropyrimidine dehydrogenase Comprehensive Epilepsy And Autism; DPYD 612779 deficiency AR Comprehensive Autism Spectrum Disorder 274270: AR 5-fluorouracil toxicity 614228: AD Charcot-Marie-Tooth disease, axonal, type 20 Comprehensive Epilepsy And Autism; DYNC1H1 600112 614563: AD Mental retardation, AD 13 Comprehensive Autism Spectrum Disorder; AD 158600: AD Spinal muscular atrophy, lower Microcephaly extremity-predominant 1, AD Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Infantile Epilepsy; DYRK1A 600855 614104: AD Mental retardation, AD 7 AD Syndromic Epilepsy And Intellectual Disability; Comprehensive Autism Spectrum Disorder 302960: XLD Chondrodysplasia punctata, XLD Comprehensive Epilepsy And Autism; EBP 300205 XLD, XLR 300960: XLR MEND syndrome Comprehensive Autism Spectrum Disorder 616409: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; EEF1A2 602959 infantile, 33 Comprehensive Epilepsy; Infantile Epilepsy; AD 616393: AD Mental retardation, AD 38 Syndromic Epilepsy And Intellectual Disability 607631: AD {Epilepsy, juvenile absence, Comprehensive Epilepsy And Autism; susceptibility to, 1} EFHC1 608815 Comprehensive Epilepsy; Focal, Generalized, AD 254770: AD {Myoclonic epilepsy, juvenile, And Myoclonic Epilepsy susceptibility to, 1} Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy EHMT1 607001 610253: AD Kleefstra syndrome 1 AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; EIF2S3 300161 300148: XLR MEHMO syndrome XLR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ELP4 606985 617141: AD ?Aniridia 2 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; EMX2 600035 269160: Schizencephaly None Comprehensive Epilepsy; Neuronal Migration Comprehensive Epilepsy And Autism; 254780: AR Epilepsy, progressive myoclonic EPM2A 607566 Comprehensive Epilepsy; Focal, Generalized, AR 2A (Lafora) And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; EZH2 601573 277590: AD Weaver syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 305400: XLR Aarskog-Scott syndrome Comprehensive Epilepsy; Syndromic Epilepsy FGD1 300546 305400: XLR Mental retardation, XL syndromic XLR, XL And Intellectual Disability; Comprehensive 16 Autism Spectrum Disorder 100800: AD Achondroplasia 109800: Bladder cancer, somatic 610474: AR, AD CATSHL syndrome 603956: Cervical cancer, somatic 114500: Colorectal cancer, somatic 612247: AD Crouzon syndrome with acanthosis nigricans Comprehensive Epilepsy And Autism; FGFR3 134934 146000: AD Hypochondroplasia AD, AR Comprehensive Epilepsy; Neuronal Migration 149730: AD LADD syndrome 602849: AD Muenke syndrome 162900: Nevus, epidermal, somatic 616482: AD SADDAN 273300: Spermatocytic seminoma, somatic 187600: AD Thanatophoric dysplasia, type I 187601: AD Thanatophoric dysplasia, type II 613153: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Comprehensive Epilepsy And Autism; 606612: AR Muscular dystrophy- FKRP 606596 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with or without Microcephaly mental retardation), type B, 5 607155: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 5 314400: XLR Cardiac valvular dysplasia, XL Comprehensive Epilepsy And Autism; XLD, XLR, FLNA 300017 300048: XLR Congenital short bowel syndrome Comprehensive Epilepsy; Neuronal Migration XL

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 300321: XL ?FG syndrome 2 305620: XLR Frontometaphyseal dysplasia 1 300049: XLD Heterotopia, periventricular 300048: XLR Intestinal pseudoobstruction, neuronal 309350: XLD Melnick-Needles syndrome 311300: XLD Otopalatodigital syndrome, type I 304120: XLD Otopalatodigital syndrome, type II 300244: XLD Terminal osseous dysplasia Comprehensive Epilepsy And Autism; 225790: AR Proliferative vasculopathy and FLVCR2 610865 Comprehensive Epilepsy; Syndromic Epilepsy AR hydranencephaly-hydrocephaly syndrome And Intellectual Disability 300624: XLD Fragile X syndrome Comprehensive Epilepsy And Autism; FMR1 309550 300623: XLD Fragile X tremor/ataxia syndrome Comprehensive Autism Spectrum Disorder; XLD, XL 311360: XL Premature ovarian failure 1 STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 613068: AR Neurodegeneration due to Comprehensive Epilepsy; Focal, Generalized, FOLR1 136430 AR cerebral folate transport deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy FOXG1 164874 613454: AD Rett syndrome, congenital variant AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly 613670: AD Mental retardation with language Comprehensive Epilepsy And Autism; FOXP1 605515 AD impairment and with or without autistic features Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; FOXP2 605317 602081: AD Speech-language disorder-1 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; FTSJ1 300499 309549: XLR Mental retardation, XL 9/44 XLR, XL Comprehensive Autism Spectrum Disorder 611136: {Epilepsy, childhood absence, susceptibility to, 4} 611136: {Epilepsy, juvenile myoclonic, Comprehensive Epilepsy And Autism; GABRA1 137160 AD susceptibility to, 5} Comprehensive Epilepsy; Infantile Epilepsy 615744: AD Epileptic encephalopathy, early infantile, 19 617829: AD Epileptic encephalopathy, infantile Comprehensive Epilepsy And Autism; GABRB2 600232 AD or early childhood, 2 Comprehensive Epilepsy; Infantile Epilepsy 612269: {Epilepsy, childhood absence, Comprehensive Epilepsy And Autism; susceptibility to, 5} GABRB3 137192 Comprehensive Epilepsy; Focal, Generalized, AD 617113: AD Epileptic encephalopathy, early And Myoclonic Epilepsy infantile, 43 613060: AD {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} Comprehensive Epilepsy And Autism; 613060: AD {Epilepsy, idiopathic generalized, GABRD 137163 Comprehensive Epilepsy; Focal, Generalized, AD 10} And Myoclonic Epilepsy 613060: AD {Epilepsy, juvenile myoclonic, susceptibility to} 607681: AD {Epilepsy, childhood absence, susceptibility to, 2} Comprehensive Epilepsy And Autism; GABRG2 137164 611277: AD Epilepsy, generalized, with febrile Comprehensive Epilepsy; Focal, Generalized, AD seizures plus, type 3 And Myoclonic Epilepsy 611277: AD Febrile seizures, familial, 8 Comprehensive Epilepsy And Autism; 612736: AR Cerebral creatine deficiency GAMT 601240 Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome 2 And Intellectual Disability Comprehensive Epilepsy And Autism; GATAD2B 614998 615074: AD Mental retardation, AD 18 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 612718: AR Cerebral creatine deficiency GATM 602360 Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome 3 And Intellectual Disability Comprehensive Epilepsy And Autism; GCSH 238330 605899: AR ?Glycine encephalopathy AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; GDI1 300104 300849: XLD Mental retardation, XL 41 XLD, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; GK 300474 307030: XLR Glycerol kinase deficiency XLR Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; GLDC 238300 605899: AR Glycine encephalopathy AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 615849: AD Culler-Jones syndrome GLI2 165230 Comprehensive Epilepsy; Syndromic Epilepsy AD 610829: AD Holoprosencephaly 9 And Intellectual Disability; Microcephaly 175700: AD Greig cephalopolysyndactyly syndrome 241800: {Hypothalamic hamartomas, somatic} Comprehensive Epilepsy And Autism; GLI3 165240 146510: AD Pallister-Hall syndrome AD Comprehensive Autism Spectrum Disorder 174200: AD Polydactyly, postaxial, types A1 and B 174700: AD Polydactyly, preaxial, type IV 615473: AD Epileptic encephalopathy, early infantile, 17 Comprehensive Epilepsy And Autism; GNAO1 139311 AD 617493: AD Neurodevelopmental disorder with Comprehensive Epilepsy; Infantile Epilepsy involuntary movements 613065: Leukemia, acute lymphoblastic, Comprehensive Epilepsy And Autism; GNB1 139380 somatic Comprehensive Epilepsy; Focal, Generalized, AD 616973: AD Mental retardation, AD 42 And Myoclonic Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; GNS 607664 252940: AR Mucopolysaccharidosis type IIID AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; GOSR2 604027 614018: AR Epilepsy, progressive myoclonic 6 Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 312870: XLR Simpson-Golabi-Behmel Comprehensive Epilepsy; Syndromic Epilepsy GPC3 300037 syndrome, type 1 And Intellectual Disability; Comprehensive XLR 194070: Wilms tumor, somatic Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; GPHN 603930 615501: AR Molybdenum cofactor deficiency C AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy GRIA3 305915 300699: XLR Mental retardation, XL 94 And Intellectual Disability; Comprehensive XLR, XL Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; GRIK2 138244 611092: AR Mental retardation, AR, 6 AR Comprehensive Autism Spectrum Disorder 614254: AD Neurodevelopmental disorder with or without hyperkinetic movements and Comprehensive Epilepsy And Autism; seizures, AD GRIN1 138249 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 617820: AR Neurodevelopmental disorder with And Intellectual Disability or without hyperkinetic movements and seizures, AR Comprehensive Epilepsy And Autism; 245570: AD Epilepsy, focal, with speech GRIN2A 138253 Comprehensive Epilepsy; Focal, Generalized, AD disorder and with or without mental retardation And Myoclonic Epilepsy 616139: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; GRIN2B 138252 infantile, 27 Comprehensive Epilepsy; Infantile Epilepsy; AD 613970: AD Mental retardation, AD 6 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; GRIP1 604597 617667: AR Fraser syndrome 3 AR Comprehensive Autism Spectrum Disorder 309801: XLD Linear skin defects with multiple Comprehensive Epilepsy And Autism; HCCS 300056 XLD congenital anomalies 1 Comprehensive Autism Spectrum Disorder 615871: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; HCN1 602780 AD infantile, 24 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 613123: Brugada syndrome 8 HCN4 605206 Comprehensive Epilepsy; Syndromic Epilepsy AD 163800: AD Sick sinus syndrome 2 And Intellectual Disability Comprehensive Epilepsy And Autism; HDAC8 300269 300882: XLD Cornelia de Lange syndrome 5 Comprehensive Autism Spectrum Disorder; XLD Microcephaly 252930: AR Mucopolysaccharidosis type IIIC Comprehensive Epilepsy And Autism; HGSNAT 610453 (Sanfilippo C) AR Comprehensive Autism Spectrum Disorder 616544: AR Retinitis pigmentosa 73 Comprehensive Epilepsy And Autism; HIP1 601767 176807: AD {Prostate cancer, progression of} AD Comprehensive Epilepsy; Infantile Epilepsy

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; 617391: AD Epileptic encephalopathy, early HNRNPU 602869 Comprehensive Epilepsy; Syndromic Epilepsy AD infantile, 54 And Intellectual Disability 300323: XLR HPRT-related gout Comprehensive Epilepsy And Autism; HPRT1 308000 XLR 300322: XLR Lesch-Nyhan syndrome Comprehensive Autism Spectrum Disorder 109800: {Bladder cancer, somatic} 218040: AD, IC Congenital myopathy with excess of muscle spindles 218040: AD, IC Costello syndrome 162900: {Nevus sebaceous or woolly hair Comprehensive Epilepsy And Autism; HRAS 190020 nevus, somatic} Comprehensive Autism Spectrum Disorder; AD, IC 163200: Schimmelpenning-Feuerstein-Mims Noonan Syndrome syndrome, somatic mosaic 137550: {Spitz nevus or nevus spilus, somatic} 188470: {Thyroid carcinoma, follicular, somatic} Comprehensive Epilepsy And Autism; HSD17B10 300256 300438: XLD HSD10 mitochondrial disease Comprehensive Epilepsy; Syndromic Epilepsy XLD And Intellectual Disability 600142: AR CARASIL syndrome 616779: AD Cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy, Comprehensive Epilepsy And Autism; HTRA1 602194 type 2 Comprehensive Epilepsy; Focal, Generalized, AD, AR 610149: {Macular degeneration, age-related, 7} And Myoclonic Epilepsy 610149: {Macular degeneration, age-related, neovascular type} 300706: Mental retardation, XL syndromic, Comprehensive Epilepsy And Autism; HUWE1 300697 XL Turner type Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; IDS 300823 309900: XLR Mucopolysaccharidosis II XLR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; IL1RAPL1 300206 300143: XLR Mental retardation, XL 21/34 Comprehensive Autism Spectrum Disorder; XLR, XL STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; IQSEC2 300522 309530: XLD Mental retardation, XL 1/78 Comprehensive Epilepsy; Syndromic Epilepsy XLD, XL And Intellectual Disability 616647: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; ITPA 147520 infantile, 35 AR Comprehensive Epilepsy; Infantile Epilepsy 613850: [Inosine triphosphatase deficiency] Comprehensive Epilepsy And Autism; KANSL1 612452 610443: AD Koolen-De Vries syndrome Comprehensive Epilepsy; Syndromic Epilepsy AD And Intellectual Disability Comprehensive Epilepsy And Autism; KAT6A 601408 616268: AD Mental retardation, AD 32 AD Comprehensive Autism Spectrum Disorder 606170: AD Genitopatellar syndrome Comprehensive Epilepsy And Autism; KAT6B 605880 AD 603736: AD SBBYSS syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 160120: AD Episodic ataxia/myokymia KCNA1 176260 Comprehensive Epilepsy; Syndromic Epilepsy AD syndrome And Intellectual Disability Comprehensive Epilepsy And Autism; 616366: AD Epileptic encephalopathy, early KCNA2 176262 Comprehensive Epilepsy; Infantile Epilepsy; AD infantile, 32 Syndromic Epilepsy And Intellectual Disability 616056: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; KCNB1 600397 AD infantile, 26 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; KCNJ1 600359 241200: AR Bartter syndrome, type 2 Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability 600791: AR Enlarged vestibular aqueduct, Comprehensive Epilepsy And Autism; KCNJ10 602208 digenic Comprehensive Epilepsy; Syndromic Epilepsy AR 612780: AR SESAME syndrome And Intellectual Disability 610582: AD Diabetes mellitus, transient neonatal, 3 125853: AD {Diabetes mellitus, type 2, Comprehensive Epilepsy And Autism; KCNJ11 600937 susceptibility to} Comprehensive Epilepsy; Focal, Generalized, AD, AR 606176: AR, AD Diabetes, permanent And Myoclonic Epilepsy neonatal, with or without neurologic features 601820: AR Hyperinsulinemic hypoglycemia,

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance familial, 2 616329: AD Maturity-onset diabetes of the young, type 13 617643: AR ?Cerebellar atrophy, developmental delay, and seizures Comprehensive Epilepsy And Autism; KCNMA1 600150 609446: AD Paroxysmal nonkinesigenic Comprehensive Epilepsy; Focal, Generalized, AD, AR dyskinesia, 3, with or without generalized And Myoclonic Epilepsy epilepsy 613720: AD Epileptic encephalopathy, early infantile, 7 Comprehensive Epilepsy And Autism; KCNQ2 602235 AD 121200: AD Myokymia Comprehensive Epilepsy; Infantile Epilepsy 121200: AD Seizures, benign neonatal, 1 Comprehensive Epilepsy And Autism; KCNQ3 602232 121201: AD Seizures, benign neonatal, 2 Comprehensive Epilepsy; Focal, Generalized, AD And Myoclonic Epilepsy 615005: AD Epilepsy, nocturnal frontal lobe, 5 Comprehensive Epilepsy And Autism; KCNT1 608167 614959: AD Epileptic encephalopathy, early AD Comprehensive Epilepsy; Infantile Epilepsy infantile, 14 Comprehensive Epilepsy And Autism; KCTD13 608947 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 611726: AR Epilepsy, progressive myoclonic 3, KCTD7 611725 Comprehensive Epilepsy; Focal, Generalized, AR with or without intracellular inclusions And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300534: XLR Mental retardation, XL, KDM5C 314690 And Intellectual Disability; Comprehensive XLR, XL syndromic, Claes-Jensen type Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; KDM6A 300128 300867: XLD Kabuki syndrome 2 XLD Comprehensive Autism Spectrum Disorder 614255: AD Mental retardation, AD 9 614213: AR Neuropathy, hereditary sensory, Comprehensive Epilepsy And Autism; KIF1A 601255 AD, AR type IIC Comprehensive Autism Spectrum Disorder 610357: AR Spastic paraplegia 30, AR Comprehensive Epilepsy And Autism; 609460: AR Goldberg-Shprintzen megacolon KIF1BP 609367 Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome And Intellectual Disability Comprehensive Epilepsy And Autism; KIRREL3 607761 None None Comprehensive Autism Spectrum Disorder 159555: AD Leukemia, myeloid/lymphoid or Comprehensive Epilepsy And Autism; KMT2A 159555 mixed-lineage AD Comprehensive Autism Spectrum Disorder 605130: AD Wiedemann-Steiner syndrome Comprehensive Epilepsy And Autism; KMT2D 602113 147920: AD Kabuki syndrome 1 Comprehensive Epilepsy; Syndromic Epilepsy AD And Intellectual Disability 108010: Arteriovenous malformation of the brain, somatic 109800: Bladder cancer, somatic 114480: Breast cancer, somatic 615278: Cardiofaciocutaneous syndrome 2 137215: Gastric cancer, somatic Comprehensive Epilepsy And Autism; 601626: AD Leukemia, acute myeloid KRAS 190070 Comprehensive Autism Spectrum Disorder; AD 211980: Lung cancer, somatic Noonan Syndrome 609942: AD Noonan syndrome 3 260350: Pancreatic carcinoma, somatic 614470: AD RAS-associated autoimmune leukoproliferative disorder 163200: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 116860: AD Cavernous malformations of CNS and retina 116860: AD Cerebral cavernous Comprehensive Epilepsy And Autism; KRIT1 604214 malformations-1 Comprehensive Epilepsy; Focal, Generalized, AD 116860: AD Hyperkeratotic cutaneous And Myoclonic Epilepsy capillary-venous malformations associated with cerebral capillary malformations 303350: XLR CRASH syndrome Comprehensive Epilepsy And Autism; L1CAM 308840 XLR 304100: XLR Corpus callosum, partial Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance agenesis of 307000: XLR Hydrocephalus due to aqueductal stenosis 307000: XLR Hydrocephalus with Hirschsprung disease 307000: XLR Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 303350: XLR MASA syndrome Comprehensive Epilepsy And Autism; L2HGDH 609584 236792: AR L-2-hydroxyglutaric aciduria AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; LAMC3 604349 614115: AR Cortical malformations, occipital AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; LAMP2 309060 300257: XLD Danon disease XLD Comprehensive Autism Spectrum Disorder 613154: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and Comprehensive Epilepsy And Autism; eye anomalies), type A, 6 LARGE1 603590 Comprehensive Epilepsy; Neuronal Migration; AR 608840: AR Muscular dystrophy- Microcephaly dystroglycanopathy (congenital with mental retardation), type B, 6 Comprehensive Epilepsy And Autism; LAS1L 300964 309585: XLR Wilson-Turner syndrome XLR Comprehensive Autism Spectrum Disorder 215140: AR Greenberg skeletal dysplasia 169400: AD Pelger-Huet anomaly Comprehensive Epilepsy And Autism; LBR 600024 618019: Pelger-Huet anomaly with mild Comprehensive Epilepsy; Syndromic Epilepsy AD, AR skeletal anomalies And Intellectual Disability 613471: AD ?Reynolds syndrome Comprehensive Epilepsy And Autism; LGI1 604619 600512: AD Epilepsy, familial temporal lobe, 1 Comprehensive Epilepsy; Syndromic Epilepsy AD And Intellectual Disability 614462: AR Hyperglycinemia, lactic acidosis, Comprehensive Epilepsy And Autism; LIAS 607031 AR and seizures Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; LINS1 610350 614340: AR Mental retardation, AR 27 AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; LRP2 600073 222448: AR Donnai-Barrow syndrome AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; MAGEL2 605283 615547: AD Schaaf-Yang syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; MAGI2 606382 617609: AR Nephrotic syndrome 15 AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; MAN1B1 604346 614202: AR Mental retardation, AR 15 AR Comprehensive Autism Spectrum Disorder 300615: XLR {Antisocial behavior} Comprehensive Epilepsy And Autism; MAOA 309850 XLR 300615: XLR Brunner syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; MAP2K1 176872 615279: Cardiofaciocutaneous syndrome 3 Comprehensive Autism Spectrum Disorder; None Noonan Syndrome Comprehensive Epilepsy And Autism; MAP2K2 601263 615280: Cardiofaciocutaneous syndrome 4 Comprehensive Autism Spectrum Disorder; None Noonan Syndrome Comprehensive Epilepsy And Autism; MAPK10 602897 None None Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy MBD5 611472 156200: AD Mental retardation, AD 1 AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder 308205: XLR IFAP syndrome with or without BRESHECK syndrome Comprehensive Epilepsy And Autism; MBTPS2 300294 308800: XLR Keratosis follicularis spinulosa XLR, XL Comprehensive Autism Spectrum Disorder decalvans, XL 300918: XLR ?Olmsted syndrome, XL Comprehensive Epilepsy And Autism; MCPH1 607117 251200: AR Microcephaly 1, primary, AR Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability; Microcephaly 300496: IC, XL, MF {Autism susceptibility, XL Comprehensive Epilepsy And Autism; XLD, XLR, MECP2 300005 3} Comprehensive Epilepsy; Infantile Epilepsy; XL, IC, MF 300673: XLR Encephalopathy, neonatal severe Syndromic Epilepsy And Intellectual Disability;

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 300260: XLR Mental retardation, XL Comprehensive Autism Spectrum Disorder; syndromic, Lubs type STAT Autism Spectrum Disorder; Microcephaly 300055: XLR Mental retardation, XL, syndromic 13 312750: XLD Rett syndrome 312750: XLD Rett syndrome, atypical 312750: XLD Rett syndrome, preserved speech variant 309520: XLR Lujan-Fryns syndrome Comprehensive Epilepsy And Autism; MED12 300188 300895: XLR Ohdo syndrome, XL XLR, XL Comprehensive Autism Spectrum Disorder 305450: XLR Opitz-Kaveggia syndrome 616789: AD Mental retardation and distinctive facial features with or without cardiac defects Comprehensive Epilepsy And Autism; MED13L 608771 AD 608808: AD Transposition of the great arteries, Comprehensive Autism Spectrum Disorder dextro-looped 1 Comprehensive Epilepsy And Autism; MED23 605042 614249: AR Mental retardation, AR 18 AR Comprehensive Autism Spectrum Disorder 613443: AD Chromosome 5q14.3 deletion Comprehensive Epilepsy And Autism; syndrome Comprehensive Epilepsy; Syndromic Epilepsy MEF2C 600662 613443: AD Mental retardation, stereotypic AD And Intellectual Disability; Comprehensive movements, epilepsy, and/or cerebral Autism Spectrum Disorder malformations 610951: AR Ceroid lipofuscinosis, neuronal, 7 Comprehensive Epilepsy And Autism; MFSD8 611124 616170: AR Macular dystrophy with central Comprehensive Epilepsy; Neuronal Ceroid AR cone involvement Lipofuscinoses Comprehensive Epilepsy And Autism; MID1 300552 300000: XLR Opitz GBBB syndrome, type I XLR Comprehensive Autism Spectrum Disorder 236250: AR Homocystinuria due to MTHFR deficiency 601634: AR {Neural tube defects, susceptibility to} Comprehensive Epilepsy And Autism; MTHFR 607093 AD, AR 181500: AD {Schizophrenia, susceptibility to} Comprehensive Epilepsy; Infantile Epilepsy 188050: AD {Thromboembolism, susceptibility to} {Vascular disease, susceptibility to} (3) 607341: Focal cortical dysplasia, type II, Comprehensive Epilepsy And Autism; MTOR 601231 somatic Comprehensive Epilepsy; Syndromic Epilepsy AD 616638: AD Smith-Kingsmore syndrome And Intellectual Disability Comprehensive Epilepsy And Autism; MYT1L 613084 616521: AD Mental retardation, AD 39 AD Comprehensive Autism Spectrum Disorder 309800: XL ?Microphthalmia, syndromic 1 Comprehensive Epilepsy And Autism; XLD, XLR, NAA10 300013 300855: XLR, XLD Ogden syndrome Comprehensive Autism Spectrum Disorder XL 616491: AD ?Charcot-Marie-Tooth disease, axonal, type 2V Comprehensive Epilepsy And Autism; NAGLU 609701 AD, AR 252920: AR Mucopolysaccharidosis type IIIB Comprehensive Autism Spectrum Disorder (Sanfilippo B) 614019: AR Lissencephaly 4 (with Comprehensive Epilepsy And Autism; NDE1 609449 microcephaly) Comprehensive Epilepsy; Focal, Generalized, AR 605013: AR ?Microhydranencephaly And Myoclonic Epilepsy; Microcephaly 305390: Exudative vitreoretinopathy 2, XL Comprehensive Epilepsy And Autism; NDP 300658 XLR, XL 310600: XLR Norrie disease Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 252010: AR, XLD, Mitochondrial Mitochondrial NDUFA1 300078 Comprehensive Epilepsy; Focal, Generalized, AR, XLD complex I deficiency And Myoclonic Epilepsy 615833: AR ?Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; NECAP1 611623 AR infantile, 21 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; NEXMIF 300524 300912: XLD Mental retardation, XL 98 XLD, XL Comprehensive Autism Spectrum Disorder 607785: AD, SM Leukemia, juvenile myelomonocytic 162210: AD Neurofibromatosis, familial spinal Comprehensive Epilepsy And Autism; NF1 613113 162200: AD Neurofibromatosis, type 1 Comprehensive Autism Spectrum Disorder; AD, SM 601321: AD Neurofibromatosis-Noonan Noonan Syndrome syndrome 193520: AD Watson syndrome 602535: AD Marshall-Smith syndrome Comprehensive Epilepsy And Autism; NFIX 164005 AD 614753: AD Sotos syndrome 2 Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; 254780: AR Epilepsy, progressive myoclonic NHLRC1 608072 Comprehensive Epilepsy; Focal, Generalized, AR 2B (Lafora) And Myoclonic Epilepsy 302200: XL Cataract 40, XL Comprehensive Epilepsy And Autism; NHS 300457 XLD, XL 302350: XLD Nance-Horan syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy NIPBL 608667 122470: AD Cornelia de Lange syndrome 1 AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly 300497: IC, XL, MF {Asperger syndrome susceptibility, XL 2} Comprehensive Epilepsy And Autism; NLGN4X 300427 300495: IC, XL, MF {Autism susceptibility, XL Comprehensive Autism Spectrum Disorder; XL, IC, MF 2} STAT Autism Spectrum Disorder 300495: IC, XL, MF Mental retardation, XL 125310: AD Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 Comprehensive Epilepsy And Autism; NOTCH3 600276 AD 130720: AD Lateral meningocele syndrome Comprehensive Epilepsy; Migraine 615293: AD ?Myofibromatosis, infantile 2 Comprehensive Epilepsy And Autism; 617116: AD Epilepsy, familial focal, with NPRL2 607072 Comprehensive Epilepsy; Focal, Generalized, AD variable foci 2 And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 617118: AD Epilepsy, familial focal, with NPRL3 600928 Comprehensive Epilepsy; Focal, Generalized, AD variable foci 3 And Myoclonic Epilepsy 114500: Colorectal cancer, somatic 162900: Epidermal nevus, somatic 137550: Melanocytic nevus syndrome, congenital, somatic 249400: Neurocutaneous melanosis, somatic Comprehensive Epilepsy And Autism; NRAS 164790 613224: AD Noonan syndrome 6 Comprehensive Autism Spectrum Disorder; AD 614470: ?RAS-associated autoimmune Noonan Syndrome lymphoproliferative syndrome type IV, somatic 163200: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 188470: Thyroid carcinoma, follicular, somatic Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 614325: AR Pitt-Hopkins-like syndrome 2 NRXN1 600565 And Intellectual Disability; Comprehensive AR 614332: {Schizophrenia, susceptibility to, 17} Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; NRXN3 600567 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 601626: AD Leukemia, acute myeloid NSD1 606681 Comprehensive Autism Spectrum Disorder; AD 117550: AD Sotos syndrome 1 STAT Autism Spectrum Disorder 308050: XLD CHILD syndrome Comprehensive Epilepsy And Autism; NSDHL 300275 XLD, XLR 300831: XLR CK syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; NSUN2 610916 611091: AR Mental retardation, AR 5 AR Comprehensive Autism Spectrum Disorder 300555: XLR Dent disease 2 Comprehensive Epilepsy And Autism; OCRL 300535 XLR 309000: XLR Lowe syndrome Comprehensive Autism Spectrum Disorder 300804: XLR Joubert syndrome 10 311200: XLD Orofaciodigital syndrome I Comprehensive Epilepsy And Autism; OFD1 300170 300424: XLR ?Retinitis pigmentosa 23 XLD, XLR Comprehensive Autism Spectrum Disorder 300209: XLR Simpson-Golabi-Behmel syndrome, type 2 Comprehensive Epilepsy And Autism; 300486: XLR Mental retardation, XL, with Comprehensive Epilepsy; Syndromic Epilepsy OPHN1 300127 cerebellar hypoplasia and distinctive facial And Intellectual Disability; Comprehensive XLR, XL appearance Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 311250: XLR Ornithine transcarbamylase OTC 300461 Comprehensive Autism Spectrum Disorder; XLR deficiency STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; PACS1 607492 615009: AD Schuurs-Hoeijmakers syndrome AD Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; 607432: IC Lissencephaly 1 Comprehensive Epilepsy; Neuronal Migration; PAFAH1B1 601545 IC 607432: IC Subcortical laminar heterotopia Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy And Autism; PAK3 300142 300558: XLR Mental retardation, XL 30/47 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL And Intellectual Disability 607236: AR HARP syndrome Comprehensive Epilepsy And Autism; PANK2 606157 234200: AR Neurodegeneration with brain iron Comprehensive Epilepsy; Syndromic Epilepsy AR accumulation 1 And Intellectual Disability 106210: AD Aniridia 604229: Anterior segment dysgenesis 5, multiple subtypes 106210: AD Cataract with late-onset corneal dystrophy Comprehensive Epilepsy And Autism; PAX6 607108 120430: AD ?Coloboma of optic nerve AD Comprehensive Epilepsy; Neuronal Migration 120200: AD ?Coloboma, ocular 136520: AD Foveal hypoplasia 1 148190: AD Keratitis 120430: AD ?Morning glory disc anomaly 165550: AD Optic nerve hypoplasia Comprehensive Epilepsy And Autism; 300088: XL Epileptic encephalopathy, early Comprehensive Epilepsy; Infantile Epilepsy; PCDH19 300460 XL infantile, 9 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; PDCD10 609118 603285: Cerebral cavernous malformations 3 Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy 312170: XLD Pyruvate dehydrogenase E1- Comprehensive Epilepsy And Autism; PDHA1 300502 XLD alpha deficiency Comprehensive Autism Spectrum Disorder 300653: XLR Phosphoglycerate kinase 1 Comprehensive Epilepsy And Autism; PGK1 311800 XLR deficiency Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 301900: XLR Borjeson-Forssman-Lehmann Comprehensive Epilepsy; Syndromic Epilepsy PHF6 300414 XLR syndrome And Intellectual Disability; Comprehensive Autism Spectrum Disorder 300263: XLR Mental retardation syndrome, XL, Comprehensive Epilepsy And Autism; PHF8 300560 XLR, XL Siderius type Comprehensive Autism Spectrum Disorder 300868: XLR Multiple congenital anomalies- hypotonia-seizures syndrome 2 Comprehensive Epilepsy And Autism; PIGA 311770 XLR 300818: Paroxysmal nocturnal hemoglobinuria, Comprehensive Epilepsy; Infantile Epilepsy somatic 614080: AR Multiple congenital anomalies- Comprehensive Epilepsy And Autism; PIGN 606097 AR hypotonia-seizures syndrome 1 Comprehensive Autism Spectrum Disorder 614749: AR Hyperphosphatasia with mental Comprehensive Epilepsy And Autism; PIGO 614730 AR retardation syndrome 2 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 239300: AR Hyperphosphatasia with mental PIGV 610274 Comprehensive Epilepsy; Syndromic Epilepsy AR retardation syndrome 1 And Intellectual Disability 256600: AR Infantile neuroaxonal dystrophy 1 Comprehensive Epilepsy And Autism; 610217: AR Neurodegeneration with brain iron PLA2G6 603604 Comprehensive Epilepsy; Syndromic Epilepsy AR accumulation 2B And Intellectual Disability 612953: AR Parkinson disease 14, AR 613722: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; PLCB1 607120 AR infantile, 12 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 312080: XLR Pelizaeus-Merzbacher disease PLP1 300401 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL 312920: XLR Spastic paraplegia 2, XL And Intellectual Disability Comprehensive Epilepsy And Autism; 616267: AR Ataxia-oculomotor apraxia 4 Comprehensive Epilepsy; Infantile Epilepsy; PNKP 605610 613402: AR Microcephaly, seizures, and AR Comprehensive Autism Spectrum Disorder; developmental delay Microcephaly 610090: AR Pyridoxamine 5'-phosphate Comprehensive Epilepsy And Autism; PNPO 603287 AR oxidase deficiency Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; POGZ 614787 616364: AD White-Sutton syndrome AD Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 203700: AR Mitochondrial DNA depletion syndrome 4A (Alpers type) 613662: AR Mitochondrial DNA depletion syndrome 4B (MNGIE type) Comprehensive Epilepsy And Autism; 607459: AR Mitochondrial recessive ataxia POLG 174763 Comprehensive Epilepsy; Migraine; Syndromic AD, AR syndrome (includes SANDO and SCAE) Epilepsy And Intellectual Disability 157640: AD Progressive external ophthalmoplegia, AD 1 258450: AR Progressive external ophthalmoplegia, AR 1 253280: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 613151: AR Muscular dystrophy- Comprehensive Epilepsy And Autism; POMGNT1 606822 dystroglycanopathy (congenital with mental Comprehensive Epilepsy; Neuronal Migration; AR retardation), type B, 3 Microcephaly 613157: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 3 617123: AR Retinitis pigmentosa 76 236670: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Comprehensive Epilepsy And Autism; 613155: AR Muscular dystrophy- POMT1 607423 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with mental Microcephaly retardation), type B, 1 609308: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 1 613150: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Comprehensive Epilepsy And Autism; 613156: AR Muscular dystrophy- POMT2 607439 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with mental Microcephaly retardation), type B, 2 613158: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 2 Comprehensive Epilepsy And Autism; PORCN 300651 305600: XLD Focal dermal hypoplasia XLD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; PPT1 600722 256730: AR Ceroid lipofuscinosis, neuronal, 1 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Neuronal Migration; PQBP1 300463 309500: XLR Renpenning syndrome XLR Syndromic Epilepsy And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 612437: AR Epilepsy, progressive myoclonic PRICKLE1 608500 Comprehensive Epilepsy; Focal, Generalized, AR 1B And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; PRICKLE2 608501 None Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy 301835: XLR Arts syndrome 311070: XLR Charcot-Marie-Tooth disease, XLR, 5 Comprehensive Epilepsy And Autism; PRPS1 311850 304500: XL Deafness, XL 1 XLR, XL Comprehensive Autism Spectrum Disorder 300661: XLR Gout, PRPS-related 300661: XLR Phosphoribosylpyrophosphate synthetase superactivity 602066: AD Convulsions, familial infantile, with paroxysmal choreoathetosis Comprehensive Epilepsy And Autism; PRRT2 614386 128200: AD Episodic kinesigenic dyskinesia 1 AD Comprehensive Epilepsy; Migraine 605751: AD Seizures, benign familial infantile, 2 605462: Basal cell carcinoma, somatic Comprehensive Epilepsy And Autism; PTCH1 601309 109400: AD Basal cell nevus syndrome Comprehensive Autism Spectrum Disorder; AD 610828: AD Holoprosencephaly 7 Microcephaly Comprehensive Epilepsy And Autism; PTCHD1 300828 300830: XLR {Autism, susceptibility to, XL 4} Comprehensive Autism Spectrum Disorder; XLR, XL STAT Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 153480: Bannayan-Riley-Ruvalcaba syndrome 158350: AD Cowden syndrome 1 613028: {Glioma susceptibility 2} Comprehensive Epilepsy And Autism; 158350: AD Lhermitte-Duclos syndrome Comprehensive Epilepsy; Focal, Generalized, 605309: AD Macrocephaly/autism syndrome PTEN 601728 And Myoclonic Epilepsy; Comprehensive AD, AR 607174: AD {Meningioma} Autism Spectrum Disorder; STAT Autism PTEN hamartoma tumor syndrome (3) Spectrum Disorder 176807: {Prostate cancer, somatic} 276950: AR VATER association with macrocephaly and ventriculomegaly 151100: AD LEOPARD syndrome 1 607785: Leukemia, juvenile myelomonocytic, Comprehensive Epilepsy And Autism; PTPN11 176876 somatic Comprehensive Autism Spectrum Disorder; AD 156250: AD Metachondromatosis Noonan Syndrome 163950: AD Noonan syndrome 1 Comprehensive Epilepsy And Autism; PURA 600473 616158: AD Mental retardation, AD 31 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300271: XLR Mental retardation, XL 72 RAB39B 300774 And Intellectual Disability; Comprehensive XLR, XL 311510: XLR ?Waisman syndrome Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; RAD21 606462 614701: AD Cornelia de Lange syndrome 4 Comprehensive Autism Spectrum Disorder; AD Microcephaly 615916: AD Cardiomyopathy, dilated, 1NN Comprehensive Epilepsy And Autism; RAF1 164760 611554: LEOPARD syndrome 2 Comprehensive Autism Spectrum Disorder; AD 611553: AD Noonan syndrome 5 Noonan Syndrome Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy RAI1 607642 182290: AD, IC Smith-Magenis syndrome AD, IC And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Focal, Generalized, RARS2 611524 611523: AR Pontocerebellar hypoplasia, type 6 AR And Myoclonic Epilepsy; Infantile Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; RBM10 300080 311900: XLR TARP syndrome XLR Comprehensive Autism Spectrum Disorder 616436: AD {Epilepsy, familial temporal lobe, Comprehensive Epilepsy And Autism; 7} RELN 600514 Comprehensive Epilepsy; Neuronal Migration; AD, AR 257320: AR Lissencephaly 2 (Norman-Roberts Microcephaly type) Comprehensive Epilepsy And Autism; RIT1 609591 615355: AD Noonan syndrome 8 Comprehensive Autism Spectrum Disorder; AD Noonan Syndrome Comprehensive Epilepsy And Autism; RNASEH2A 606034 610333: AR Aicardi-Goutieres syndrome 4 AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; RNASEH2B 610326 610181: AR Aicardi-Goutieres syndrome 2 Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability Comprehensive Epilepsy And Autism; RNASEH2C 610330 610329: AR Aicardi-Goutieres syndrome 3 Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability Comprehensive Epilepsy And Autism; ROGDI 614574 226750: AR Kohlschutter-Tonz syndrome Comprehensive Epilepsy; Infantile Epilepsy; AR Syndromic Epilepsy And Intellectual Disability 300847: {Autism, susceptibility to, XL 5} Comprehensive Epilepsy And Autism; RPL10 312173 300998: XLR Mental retardation, XL, XLR, XL Comprehensive Autism Spectrum Disorder syndromic, 35 303600: XLD, IC Coffin-Lowry syndrome Comprehensive Epilepsy And Autism; RPS6KA3 300075 XLD, XL, IC 300844: XLD Mental retardation, XL 19 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 612952: AR Aicardi-Goutieres syndrome 5 SAMHD1 606754 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 614415: AD ?Chilblain lupus 2 And Intellectual Disability Comprehensive Epilepsy And Autism; SATB2 608148 612313: AD Glass syndrome AD Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; 254900: AR Epilepsy, progressive myoclonic 4, SCARB2 602257 Comprehensive Epilepsy; Focal, Generalized, AR with or without renal failure And Myoclonic Epilepsy 604403: AD Epilepsy, generalized, with febrile seizures plus, type 2 Comprehensive Epilepsy And Autism; 607208: AD Epileptic encephalopathy, early Comprehensive Epilepsy; Migraine; Syndromic SCN1A 182389 AD infantile, 6 (Dravet syndrome) Epilepsy And Intellectual Disability; 604403: AD Febrile seizures, familial, 3A Comprehensive Autism Spectrum Disorder 609634: AD Migraine, familial hemiplegic, 3 615377: AD Atrial fibrillation, familial, 13 612838: Brugada syndrome 5 612838: Cardiac conduction defect, Comprehensive Epilepsy And Autism; nonspecific SCN1B 600235 Comprehensive Epilepsy; Focal, Generalized, AD, AR 604233: AD Epilepsy, generalized, with febrile And Myoclonic Epilepsy seizures plus, type 1 617350: AR Epileptic encephalopathy, early infantile, 52 613721: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; infantile, 11 SCN2A 182390 Comprehensive Epilepsy; Infantile Epilepsy; AD 607745: AD Seizures, benign familial infantile, Comprehensive Autism Spectrum Disorder 3 617935: AD Epilepsy, familial focal, with Comprehensive Epilepsy And Autism; variable foci 4 SCN3A 182391 Comprehensive Epilepsy; Focal, Generalized, AD 617938: AD Epileptic encephalopathy, early And Myoclonic Epilepsy infantile, 62 614022: AD Atrial fibrillation, familial, 10 601144: AD Brugada syndrome 1 601154: AD Cardiomyopathy, dilated, 1E 113900: AD Heart block, nonprogressive Comprehensive Epilepsy And Autism; 113900: AD Heart block, progressive, type IA SCN5A 600163 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 603830: AD Long QT syndrome-3 And Intellectual Disability 608567: AR Sick sinus syndrome 1 272120: AR {Sudden infant death syndrome, susceptibility to} 603829: Ventricular fibrillation, familial, 1 614306: AD ?Cognitive impairment with or without cerebellar ataxia 614558: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SCN8A 600702 AD infantile, 13 Comprehensive Epilepsy; Infantile Epilepsy 617080: AD Seizures, benign familial infantile, 5 607208: AD {Dravet syndrome, modifier of} 613863: AD Epilepsy, generalized, with febrile seizures plus, type 7 133020: AD Erythermalgia, primary Comprehensive Epilepsy And Autism; 613863: AD Febrile seizures, familial, 3B SCN9A 603415 Comprehensive Epilepsy; Focal, Generalized, AD, AR 243000: AR HSAN2D, AR And Myoclonic Epilepsy 243000: AR Insensitivity to pain, congenital 167400: AD Paroxysmal extreme pain disorder, 133020: AD Small fiber neuropathy Comprehensive Epilepsy And Autism; 604218: AD Encephalopathy, familial, with SERPINI1 602445 Comprehensive Epilepsy; Focal, Generalized, AD neuroserpin inclusion bodies And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 616078: AD Mental retardation, AD 29 Comprehensive Epilepsy; Syndromic Epilepsy SETBP1 611060 269150: AD Schinzel-Giedion midface AD And Intellectual Disability; Comprehensive retraction syndrome Autism Spectrum Disorder Comprehensive Epilepsy And Autism; SETD2 612778 616831: AD Luscan-Lumish syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; SETD5 615743 615761: AD Mental retardation, AD 23 AD Comprehensive Autism Spectrum Disorder 252900: AR Mucopolysaccharidosis type IIIA Comprehensive Epilepsy And Autism; SGSH 605270 AR (Sanfilippo A) Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; SHANK2 603290 613436: {Autism susceptibility 17} Comprehensive Autism Spectrum Disorder; None STAT Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 606232: AD Phelan-McDermid syndrome SHANK3 606230 And Intellectual Disability; Comprehensive AD 613950: {Schizophrenia 15} Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 607721: AD Noonan-like syndrome with loose SHOC2 602775 Comprehensive Autism Spectrum Disorder; AD anagen hair Noonan Syndrome 616341: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SIK1 605705 AD infantile, 30 Comprehensive Epilepsy; Infantile Epilepsy 616685: AD {Epilepsy, idiopathic generalized, Comprehensive Epilepsy And Autism; susceptibility to, 14} SLC12A5 606726 Comprehensive Epilepsy; Infantile Epilepsy; AD, AR 616645: AR Epileptic encephalopathy, early Syndromic Epilepsy And Intellectual Disability infantile, 34 615905: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SLC13A5 608305 AR infantile, 25 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; SLC16A2 300095 300523: XL Allan-Herndon-Dudley syndrome XL Comprehensive Autism Spectrum Disorder 607483: AR Thiamine metabolism dysfunction Comprehensive Epilepsy And Autism; SLC19A3 606152 syndrome 2 (biotin- or thiamine-responsive Comprehensive Epilepsy; Syndromic Epilepsy AR encephalopathy type 2) And Intellectual Disability 617105: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SLC1A2 600300 AD infantile, 41 Comprehensive Epilepsy; Infantile Epilepsy 615182: AR Combined D-2- and L-2- Comprehensive Epilepsy And Autism; SLC25A1 190315 AR hydroxyglutaric aciduria Comprehensive Autism Spectrum Disorder 607196: AR Microcephaly, Amish type Comprehensive Epilepsy And Autism; SLC25A19 606521 613710: AR Thiamine metabolism dysfunction Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome 4 (progressive polyneuropathy type) And Intellectual Disability; Microcephaly 609304: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SLC25A22 609302 AR infantile, 3 Comprehensive Epilepsy; Infantile Epilepsy 601042: AD Dystonia 9 614847: AD {Epilepsy, idiopathic generalized, susceptibility to, 12} 606777: AR, AD GLUT1 deficiency syndrome Comprehensive Epilepsy And Autism; SLC2A1 138140 1, infantile onset, severe Comprehensive Epilepsy; Migraine; Syndromic AD, AR 612126: AD GLUT1 deficiency syndrome 2, Epilepsy And Intellectual Disability childhood onset 608885: AD Stomatin-deficient cryohydrocytosis with neurologic defects 300896: XLD, Somatic mosaicism Congenital Comprehensive Epilepsy And Autism; SLC35A2 314375 XLD disorder of glycosylation, type IIm Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; SLC4A10 605556 None Comprehensive Epilepsy; Syndromic Epilepsy None And Intellectual Disability Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Focal, Generalized, SLC6A1 137165 616421: AD Myoclonic-atonic epilepsy AD And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder 607834: {Anxiety-related personality traits} Comprehensive Epilepsy And Autism; SLC6A4 182138 AD 164230: AD {Obsessive-compulsive disorder} Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Infantile Epilepsy; 300352: XLR Cerebral creatine deficiency SLC6A8 300036 Syndromic Epilepsy And Intellectual Disability; XLR syndrome 1 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300243: XLD Mental retardation, XL SLC9A6 300231 And Intellectual Disability; Comprehensive XLD, XL syndromic, Christianson type Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy And Autism; SMARCA2 600014 601358: AD Nicolaides-Baraitser syndrome AD Comprehensive Autism Spectrum Disorder 614609: AD Coffin-Siris syndrome 4 Comprehensive Epilepsy And Autism; SMARCA4 603254 613325: AD {Rhabdoid tumor predisposition AD Comprehensive Autism Spectrum Disorder syndrome 2} 614608: AD Coffin-Siris syndrome 3 Comprehensive Epilepsy And Autism; SMARCB1 601607 AD 609322: AD {Rhabdoid tumor predisposition Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance syndrome 1} 609322: Rhabdoid tumors, somatic 162091: AD {Schwannomatosis-1, susceptibility to} 616938: AD Coffin-Siris syndrome 5 Comprehensive Epilepsy And Autism; SMARCE1 603111 607174: AD {Meningioma, familial, AD Comprehensive Autism Spectrum Disorder susceptibility to} Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy SMC1A 300040 300590: XLD Cornelia de Lange syndrome 2 XLD And Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy And Autism; SMC3 606062 610759: AD Cornelia de Lange syndrome 3 Comprehensive Epilepsy; Syndromic Epilepsy AD And Intellectual Disability; Microcephaly Comprehensive Epilepsy And Autism; 309583: XLR Mental retardation, XL, Snyder- SMS 300105 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL Robinson type And Intellectual Disability Comprehensive Epilepsy And Autism; 616330: AD ?Myasthenic syndrome, Comprehensive Epilepsy; Focal, Generalized, SNAP25 600322 AD congenital, 18 And Myoclonic Epilepsy; Syndromic Epilepsy And Intellectual Disability 609528: AR Cerebral dysgenesis, neuropathy, Comprehensive Epilepsy And Autism; SNAP29 604202 ichthyosis, and palmoplantar keratoderma Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome And Intellectual Disability Comprehensive Epilepsy And Autism; 135300: AD ?Fibromatosis, gingival, 1 SOS1 182530 Comprehensive Autism Spectrum Disorder; AD 610733: AD Noonan syndrome 4 Noonan Syndrome Comprehensive Epilepsy And Autism; SOX11 600898 615866: AD Mental retardation, AD 27 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; SOX5 604975 616803: AD Lamb-Shaffer syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; SPRED1 609291 611431: AD Legius syndrome Comprehensive Autism Spectrum Disorder; AD Noonan Syndrome 613477: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SPTAN1 182810 AD infantile, 5 Comprehensive Epilepsy; Infantile Epilepsy 615006: AR ?Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; ST3GAL3 606494 infantile, 15 AR Comprehensive Epilepsy; Infantile Epilepsy 611090: AR Mental retardation, AR 12 Comprehensive Epilepsy And Autism; 609056: AR Salt and pepper developmental ST3GAL5 604402 Comprehensive Epilepsy; Syndromic Epilepsy AR regression syndrome And Intellectual Disability 616172: AD Generalized epilepsy with febrile Comprehensive Epilepsy And Autism; STX1B 601485 AD seizures plus, type 9 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 612164: AD Epileptic encephalopathy, early STXBP1 602926 Comprehensive Epilepsy; Infantile Epilepsy; AD infantile, 4 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 300491: XLR, XLD Epilepsy, XL, with variable Comprehensive Epilepsy; Syndromic Epilepsy XLD, XLR, SYN1 313440 learning disabilities and behavior disorders And Intellectual Disability; Comprehensive XL Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy SYNGAP1 603384 612621: AD Mental retardation, AD 5 AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; SYP 313475 300802: XLD Mental retardation, XL 96 Comprehensive Epilepsy; Syndromic Epilepsy XLD, XL And Intellectual Disability 615476: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SZT2 615463 AR infantile, 18 Comprehensive Epilepsy; Infantile Epilepsy 314250: XLR Dystonia-Parkinsonism, XL Comprehensive Epilepsy And Autism; TAF1 313650 300966: XLR Mental retardation, XL, XLR, XL Comprehensive Autism Spectrum Disorder syndromic 33 220500: AR DOORS syndrome 614617: AR Deafness , AR 86 Comprehensive Epilepsy And Autism; TBC1D24 613577 AD, AR 616044: AD Deafness, AD 65 Comprehensive Epilepsy; Infantile Epilepsy 615338: AR Epileptic encephalopathy, early

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance infantile, 16 605021: AR Myoclonic epilepsy, infantile, familial 616944: AD Mental retardation, AD 41 Comprehensive Epilepsy And Autism; TBL1XR1 608628 AD 602342: AD Pierpont syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; TBR1 604616 None None Comprehensive Autism Spectrum Disorder 217095: Conotruncal anomaly face syndrome Comprehensive Epilepsy And Autism; 188400: AD DiGeorge syndrome TBX1 602054 Comprehensive Epilepsy; Syndromic Epilepsy AD 187500: AD Tetralogy of Fallot And Intellectual Disability 192430: AD Velocardiofacial syndrome Comprehensive Epilepsy And Autism; TCF12 600480 615314: AD Craniosynostosis 3 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; TCF20 603107 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 613267: AD Corneal dystrophy, Fuchs Comprehensive Epilepsy; Syndromic Epilepsy TCF4 602272 endothelial, 3 AD And Intellectual Disability; Comprehensive 610954: AD Pitt-Hopkins syndrome Autism Spectrum Disorder Comprehensive Epilepsy And Autism; THOC2 300395 300957: XLR Mental retardation, XL 12/35 XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; TIMM8A 300356 304700: XLR Mohr-Tranebjaerg syndrome XLR Comprehensive Autism Spectrum Disorder 614970: AR Joubert syndrome 20 Comprehensive Epilepsy And Autism; TMEM231 614949 AR 615397: AR Meckel syndrome 11 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; TMLHE 300777 300872: XLR {Autism, susceptibility to, XL 6} XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 204500: AR Ceroid lipofuscinosis, neuronal, 2 TPP1 607998 Comprehensive Epilepsy; Neuronal Ceroid AR 609270: AR Spinocerebellar ataxia, AR 7 Lipofuscinoses Comprehensive Epilepsy And Autism; TRAPPC9 611966 613192: AR Mental retardation, AR 13 AR Comprehensive Autism Spectrum Disorder 225750: AR, AD Aicardi-Goutieres syndrome 1, dominant and recessive 610448: AD Chilblain lupus Comprehensive Epilepsy And Autism; TREX1 606609 152700: AD {Systemic lupus erythematosus, Comprehensive Epilepsy; Syndromic Epilepsy AD, AR susceptibility to} And Intellectual Disability 192315: AD Vasculopathy, retinal, with cerebral leukodystrophy Comprehensive Epilepsy And Autism; TRIO 601893 617061: AD Mental retardation, AD 44 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; TRPM6 607009 602014: AR Hypomagnesemia 1, intestinal Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 607341: Focal cortical dysplasia, type II, Comprehensive Epilepsy; Syndromic Epilepsy somatic TSC1 605284 And Intellectual Disability; Comprehensive AD 606690: Lymphangioleiomyomatosis Autism Spectrum Disorder; STAT Autism 191100: AD Tuberous sclerosis-1 Spectrum Disorder Comprehensive Epilepsy And Autism; 607341: ?Focal cortical dysplasia, type II, Comprehensive Epilepsy; Syndromic Epilepsy somatic TSC2 191092 And Intellectual Disability; Comprehensive AD 606690: Lymphangioleiomyomatosis, somatic Autism Spectrum Disorder; STAT Autism 613254: AD Tuberous sclerosis-2 Spectrum Disorder Comprehensive Epilepsy And Autism; TSPAN7 300096 300210: XLR Mental retardation, XL 58 XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Neuronal Migration; TUBA1A 602529 611603: AD Lissencephaly 3 AD Comprehensive Autism Spectrum Disorder; Microcephaly 613180: AR Cortical dysplasia, complex, with Comprehensive Epilepsy And Autism; TUBA8 605742 AR other brain malformations 8 Comprehensive Epilepsy; Neuronal Migration 615771: AD Cortical dysplasia, complex, with other brain malformations 6 Comprehensive Epilepsy And Autism; TUBB 191130 AD 156610: AD Symmetric circumferential skin Comprehensive Epilepsy; Neuronal Migration creases, congenital, 1

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 615763: AD Cortical dysplasia, complex, with Comprehensive Epilepsy And Autism; TUBB2A 615101 AD other brain malformations 5 Comprehensive Epilepsy; Neuronal Migration 610031: AD Cortical dysplasia, complex, with Comprehensive Epilepsy And Autism; TUBB2B 612850 AD other brain malformations 7 Comprehensive Epilepsy; Neuronal Migration 614039: AD Cortical dysplasia, complex, with other brain malformations 1 Comprehensive Epilepsy And Autism; TUBB3 602661 AD 600638: AD Fibrosis of extraocular muscles, Comprehensive Epilepsy; Neuronal Migration congenital, 3A Comprehensive Epilepsy And Autism; 615412: AD Cortical dysplasia, complex, with TUBG1 191135 Comprehensive Epilepsy; Neuronal Migration; AD other brain malformations 4 Microcephaly Comprehensive Epilepsy And Autism; TUSC3 601385 611093: AR Mental retardation, AR 7 AR Comprehensive Autism Spectrum Disorder 300860: XLR Mental retardation, XL Comprehensive Epilepsy And Autism; UBE2A 312180 XLR, XL syndromic, Nascimento-type Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy UBE3A 601623 105830: IC Angelman syndrome And Intellectual Disability; Comprehensive IC Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly 616801: AR Hypotonia, infantile, with Comprehensive Epilepsy And Autism; UNC80 612636 psychomotor retardation and characteristic AR Comprehensive Autism Spectrum Disorder facies 2 Comprehensive Epilepsy And Autism; 300676: XLR Mental retardation, XL, UPF3B 300298 Comprehensive Autism Spectrum Disorder; XLR, XL syndromic 14 STAT Autism Spectrum Disorder 300919: XLR Mental retardation, XL 99 Comprehensive Epilepsy And Autism; XLD, XLR, USP9X 300072 300968: XLD Mental retardation, XL 99, Comprehensive Autism Spectrum Disorder XL syndromic, female-restricted 600145: AD Caudal regression syndrome Comprehensive Epilepsy And Autism; VANGL1 610132 182940: AD {Neural tube defects, susceptibility Comprehensive Epilepsy; Syndromic Epilepsy AD to} And Intellectual Disability Comprehensive Epilepsy And Autism; VPS13A 605978 200150: AR Choreoacanthocytosis Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy VPS13B 607817 216550: AR Cohen syndrome AR And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; WAC 615049 616708: AD Desanto-Shinawi syndrome AD Comprehensive Autism Spectrum Disorder 300894: XLD Neurodegeneration with brain Comprehensive Epilepsy And Autism; WDR45 300526 XLD iron accumulation 5 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 604317: AR Microcephaly 2, primary, AR, with WDR62 613583 Comprehensive Epilepsy; Syndromic Epilepsy AR or without cortical malformations And Intellectual Disability; Microcephaly 610185: AR Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Comprehensive Epilepsy And Autism; WDR81 614218 AR 617967: AR Hydrocephalus, congenital, 3, with Comprehensive Autism Spectrum Disorder brain anomalies 616211: AR Epileptic encephalopathy, early infantile, 28 Comprehensive Epilepsy And Autism; WWOX 605131 133239: Esophageal squamous cell AR Comprehensive Epilepsy; Infantile Epilepsy carcinoma, somatic 614322: AR Spinocerebellar ataxia, AR 12 Comprehensive Epilepsy And Autism; YWHAE 605066 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ZC4H2 300897 314580: XLR Wieacker-Wolff syndrome XLR Comprehensive Autism Spectrum Disorder 300799: Mental retardation, XL syndromic, Comprehensive Epilepsy And Autism; ZDHHC9 300646 XL Raymond type Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy ZEB2 605802 235730: AD Mowat-Wilson syndrome AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ZMYND11 608668 616083: AD Mental retardation, AD 30 AD Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; ZNF407 615894 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ZNF711 314990 300803: XL Mental retardation, XL 97 XL Comprehensive Autism Spectrum Disorder

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive). 2. ALDH7A1: The following ALDH7A1 hg19 coordinates have been excluded from this assay: chr5:125907050-125907056. 3. ARX: The following ARX hg19 coordinates have been excluded from this assay: chrX:25031027-25031926. 4. ATP13A2: The following ATP13A2 hg19 coordinates have been excluded from this assay: chr1:17338212-17338244. 5. ATP2A2: The following ATP2A2 hg19 coordinates have been excluded from this assay: chr12:110718408-110718414. 6. ATP6AP2: The following ATP6AP2 hg19 coordinates have been excluded from this assay: chrX:40440306-40440365. 7. ATP7A: The following ATP7A hg19 coordinates have been excluded from this assay: chrX:77269723-77269729 and chrX:77278955-77279156. 8. ATR: The following ATR hg19 coordinates have been excluded from this assay: chr3:142184699-142184705. 9. CACNA1H: The following CACNA1H hg19 coordinates have been excluded from this assay: chr16:1203726-1204047. 10. CACNA2D2: The following CACNA2D2 hg19 coordinates have been excluded from this assay: chr3:50540637-50540865. 11. CDKN1C: The following CDKN1C hg19 coordinates have been excluded from this assay: chr11:2905888-2906730. 12. CHRNA7: The following CHRNA7 hg19 coordinates have been excluded from this assay: chr15:32460129-32460670 and chr15:32446096- 32446198. 13. COL18A1: The following COL18A1 hg19 coordinates have been excluded from this assay: chr21:46825134-46825167 and chr21:46825282- 46825399. 14. DMD: The following DMD hg19 coordinates have been excluded from this assay: chrX:31897426-31897627, chrX:32668999-32669253, chrX:32644476-32644680, chrX:31627637-31627838, chrX:32460213-32460334, chrX:31219361-31219367, chrX:31219126-31219287, and chrX:32644160-32644321. 15. EHMT1: The following EHMT1 hg19 coordinates have been excluded from this assay: chr9:140513469-140513512. 16. ELP4: The following ELP4 hg19 coordinates have been excluded from this assay: chr11:31703323-31703634. 17. EPM2A: The following EPM2A hg19 coordinates have been excluded from this assay: chr6:146056322-146056645. 18. FMR1: The following FMR1 hg19 coordinates have been excluded from this assay: chrX:147018844-147019305. 19. GABRD: The following GABRD hg19 coordinates have been excluded from this assay: chr1:1950851-1950941. 20. GK: The following GK hg19 coordinates have been excluded from this assay: chrX:30687487-30687493. 21. HGSNAT: The following HGSNAT hg19 coordinates have been excluded from this assay: chr8:42995524-42995881. 22. HPRT1: The following HPRT1 hg19 coordinates have been excluded from this assay: chrX:133625461-133625467. 23. HTRA1: The following HTRA1 hg19 coordinates have been excluded from this assay: chr10:124221157-124221651. 24. IDS: The following IDS hg19 coordinates have been excluded from this assay: chrX:148584720-148585050. 25. IQSEC2: The following IQSEC2 hg19 coordinates have been excluded from this assay: chrX:53263389-53264377. 26. KRIT1: The following KRIT1 hg19 coordinates have been excluded from this assay: chr7:91829915-91829921. 27. LAMP2: The following LAMP2 hg19 coordinates have been excluded from this assay: chrX:119604075-119604081. 28. MAGI2: The following MAGI2 hg19 coordinates have been excluded from this assay: chr7:77648620-77649304. 29. NFIX: The following NFIX hg19 coordinates have been excluded from this assay: chr19:13106640-13106689. 30. NHS: The following NHS hg19 coordinates have been excluded from this assay: chrX:17753589-17753595. 31. NOTCH3: The following NOTCH3 hg19 coordinates have been excluded from this assay: chr19:15311587-15311727. 32. OTC: The following OTC hg19 coordinates have been excluded from this assay: chrX:38269298-38269509. 33. SCN1B: The following SCN1B hg19 coordinates have been excluded from this assay: chr19:35521713-35521775. 34. SCN3A: The following SCN3A hg19 coordinates have been excluded from this assay: chr2:165986438-165986817. 35. SGSH: The following SGSH hg19 coordinates have been excluded from this assay: chr17:78193967-78194168. 36. SHANK2: Analysis of SHANK2 is limited to copy number variants only. 37. SHANK3: Analysis of SHANK3 is limited to copy number variants only. 38. ST3GAL5: The following ST3GAL5 hg19 coordinates have been excluded from this assay: chr2:86115935-86116039. 39. SYNGAP1: The following SYNGAP1 hg19 coordinates have been excluded from this assay: chr6:33388030-33388119. 40. TBX1: The following TBX1 hg19 coordinates have been excluded from this assay: chr22:19748416-19748814. 41. TMLHE: The following TMLHE hg19 coordinates have been excluded from this assay: chrX:154721184-154721338, chrX:154722214-154722372, and chrX:154722006-154722167. 42. TRIO: The following TRIO hg19 coordinates have been excluded from this assay: chr5:14143823-14144002. 43. TUBB2A: The following TUBB2A hg19 coordinates have been excluded from this assay: chr6:3154085-3155190 and chr6:3156266-3156397. 44. TUBB2B: The following TUBB2B hg19 coordinates have been excluded from this assay: chr6:3224973-3226056. 45. VPS13A: The following VPS13A hg19 coordinates have been excluded from this assay: chr9:79829178-79829419.

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THE COMPREHENSIVE EPILEPSY PANEL

The Comprehensive Epilepsy Panel includes 226 genes with seven subpanels: Focal, Generalized, and Myoclonic Epilepsy (52), Infantile Epilepsy (58), Migraine (7), Neuronal Migration (22), Neuronal Ceroid Lipofuscinoses (9), and Syndromic Epilepsy and Intellectual Disability (93) Subpanels. These groups were formed following the recommendations of the International League Against Epilepsy (ILAE) Commission on Classification and Terminology and of Lemke et al., 2012.

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The Comprehensive Epilepsy Panel includes the following 226 genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; ABAT 137150 613163: AR GABA-transaminase deficiency AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; ACY1 104620 609924: AR Aminoacylase 1 deficiency Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy 606854: AR Polymicrogyria, bilateral Comprehensive Epilepsy And Autism; ADGRG1 604110 frontoparietal Comprehensive Epilepsy; Neuronal Migration; AR 615752: Polymicrogyria, bilateral perisylvian Microcephaly 604352: AD ?Febrile seizures, familial, 4 Comprehensive Epilepsy And Autism; 605472: AR Usher syndrome, type 2C ADGRV1 602851 Comprehensive Epilepsy; Focal, Generalized, AD, AR 605472: AR Usher syndrome, type 2C, And Myoclonic Epilepsy GPR98/PDZD7 digenic Comprehensive Epilepsy And Autism; ADSL 608222 103050: AR Adenylosuccinase deficiency Comprehensive Epilepsy; Infantile Epilepsy; AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 271980: AR Succinic semialdehyde Comprehensive Epilepsy; Focal, Generalized, ALDH5A1 610045 AR dehydrogenase deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; ALDH7A1 107323 266100: AR Epilepsy, pyridoxine-dependent Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy 300884: XLD ?Congenital disorder of glycosylation, type Is Comprehensive Epilepsy And Autism; ALG13 300776 XLD 300884: XLD Epileptic encephalopathy, early Comprehensive Epilepsy; Infantile Epilepsy infantile, 36 Comprehensive Epilepsy And Autism; AMT 238310 605899: AR Glycine encephalopathy AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 304340: XLR Mental retardation, XL syndromic AP1S2 300629 And Intellectual Disability; Comprehensive XLR, XL 5 Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 608097: AR Periventricular heterotopia with ARFGEF2 605371 Comprehensive Epilepsy; Syndromic Epilepsy AR microcephaly And Intellectual Disability; Microcephaly 300607: XLR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; ARHGEF9 300429 XLR infantile, 8 Comprehensive Epilepsy; Infantile Epilepsy 308350: XLR Epileptic encephalopathy, early infantile, 1 300215: XL Hydranencephaly with abnormal Comprehensive Epilepsy And Autism; genitalia Comprehensive Epilepsy; Infantile Epilepsy; ARX 300382 300215: XL Lissencephaly, XL 2 XLR, XL Comprehensive Autism Spectrum Disorder; 300419: XLR Mental retardation, XL 29 and STAT Autism Spectrum Disorder; Microcephaly others 309510: XLR Partington syndrome 300004: XL Proud syndrome Comprehensive Epilepsy And Autism; ASPM 605481 608716: AR Microcephaly 5, primary, AR Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability; Microcephaly 104290: AD Alternating hemiplegia of childhood 1 Comprehensive Epilepsy And Autism; ATP1A2 182340 AD 602481: AD Migraine, familial basilar Comprehensive Epilepsy; Migraine 602481: AD Migraine, familial hemiplegic, 2 Comprehensive Epilepsy And Autism; 101900: AD Acrokeratosis verruciformis ATP2A2 108740 Comprehensive Epilepsy; Syndromic Epilepsy AD 124200: AD Darier disease And Intellectual Disability 300423: XLR Mental retardation, XL, Comprehensive Epilepsy And Autism; ATP6AP2 300556 syndromic, Hedera type Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL 300911: XLR ?Parkinsonism with spasticity, XL And Intellectual Disability Comprehensive Epilepsy And Autism; 219200: AR Cutis laxa, AR, type IIA ATP6V0A2 611716 Comprehensive Epilepsy; Syndromic Epilepsy AR 278250: AR Wrinkly skin syndrome And Intellectual Disability

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 614564: AD ?Cutaneous telangiectasia and Comprehensive Epilepsy And Autism; ATR 601215 cancer syndrome, familial Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 210600: AR Seckel syndrome 1 And Intellectual Disability; Microcephaly 300448: Alpha-thalassemia myelodysplasia syndrome, somatic Comprehensive Epilepsy And Autism; 301040: XLD Alpha-thalassemia/mental Comprehensive Epilepsy; Syndromic Epilepsy XLD, XLR, ATRX 300032 retardation syndrome And Intellectual Disability; Comprehensive XL 309580: XLR Mental retardation-hypotonic Autism Spectrum Disorder facies syndrome, XL Comprehensive Epilepsy And Autism; 614923: Branched-chain ketoacid Comprehensive Epilepsy; Focal, Generalized, BCKDK 614901 None dehydrogenase kinase deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder 617106: AD Epileptic encephalopathy, early infantile, 42 108500: AD Episodic ataxia, type 2 Comprehensive Epilepsy And Autism; CACNA1A 601011 141500: AD Migraine, familial hemiplegic, 1 AD Comprehensive Epilepsy; Migraine 141500: AD Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 183086: AD Spinocerebellar ataxia 6 611942: {Epilepsy, childhood absence, susceptibility to, 6} Comprehensive Epilepsy And Autism; 611942: {Epilepsy, idiopathic generalized, CACNA1H 607904 Comprehensive Epilepsy; Focal, Generalized, AD susceptibility to, 6} And Myoclonic Epilepsy 617027: AD Hyperaldosteronism, familial, type IV Comprehensive Epilepsy And Autism; CACNA2D2 607082 None Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy 607682: AD {Epilepsy, idiopathic generalized, susceptibility to, 9} Comprehensive Epilepsy And Autism; CACNB4 601949 607682: AD {Epilepsy, juvenile myoclonic, Comprehensive Epilepsy; Focal, Generalized, AD susceptibility to, 6} And Myoclonic Epilepsy 613855: AD Episodic ataxia, type 5 300422: FG syndrome 4 300749: XLD Mental retardation and Comprehensive Epilepsy And Autism; microcephaly with pontine and cerebellar Comprehensive Epilepsy; Syndromic Epilepsy CASK 300172 XLD hypoplasia And Intellectual Disability; Comprehensive 300422: Mental retardation, with or without Autism Spectrum Disorder; Microcephaly nystagmus {Calcium, serum level of} (3) 612899: {Epilepsy idiopathic generalized, susceptibility to, 8} Hypercalciuric hypercalcemia (3) 239200: AR, AD Hyperparathyroidism, Comprehensive Epilepsy And Autism; CASR 601199 neonatal Comprehensive Epilepsy; Focal, Generalized, AD, AR 601198: AD Hypocalcemia, AD And Myoclonic Epilepsy 601198: AD Hypocalcemia, AD, with Bartter syndrome 145980: AD Hypocalciuric hypercalcemia, type I Comprehensive Epilepsy And Autism; 236600: AR Hydrocephalus, congenital, 1 CCDC88C 611204 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 616053: AD ?Spinocerebellar ataxia 40 And Intellectual Disability Comprehensive Epilepsy And Autism; 603284: AD Cerebral cavernous CCM2 607929 Comprehensive Epilepsy; Focal, Generalized, AD malformations-2 And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 300672: XLD Epileptic encephalopathy, early Comprehensive Epilepsy; Infantile Epilepsy; CDKL5 300203 XLD infantile, 2 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy And Autism; 615369: AD Epileptic encephalopathy, CHD2 602119 Comprehensive Epilepsy; Infantile Epilepsy; AD childhood-onset Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 610353: AD Epilepsy, nocturnal frontal lobe, CHRNA2 118502 Comprehensive Epilepsy; Focal, Generalized, AD type 4 And Myoclonic Epilepsy

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; 600513: AD Epilepsy, nocturnal frontal lobe, 1 CHRNA4 118504 Comprehensive Epilepsy; Focal, Generalized, AD 188890: {Nicotine addiction, susceptibility to} And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; CHRNA7 118511 None Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; CHRNB2 118507 605375: Epilepsy, nocturnal frontal lobe, 3 Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy 607628: AD {Epilepsy, idiopathic generalized, susceptibility to, 11} 607628: AD {Epilepsy, juvenile absence, Comprehensive Epilepsy And Autism; CLCN2 600570 susceptibility to, 2} Comprehensive Epilepsy; Focal, Generalized, AD, AR 607628: AD {Epilepsy, juvenile myoclonic, And Myoclonic Epilepsy susceptibility to, 8} 615651: AR Leukoencephalopathy with ataxia Comprehensive Epilepsy And Autism; CLN3 607042 204200: AR Ceroid lipofuscinosis, neuronal, 3 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses Comprehensive Epilepsy And Autism; CLN5 608102 256731: AR Ceroid lipofuscinosis, neuronal, 5 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses 601780: AR Ceroid lipofuscinosis, neuronal, 6 Comprehensive Epilepsy And Autism; CLN6 606725 204300: AR Ceroid lipofuscinosis, neuronal, Comprehensive Epilepsy; Neuronal Ceroid AR Kufs type, adult onset Lipofuscinoses 600143: AR Ceroid lipofuscinosis, neuronal, 8 Comprehensive Epilepsy And Autism; CLN8 607837 610003: AR Ceroid lipofuscinosis, neuronal, 8, Comprehensive Epilepsy; Neuronal Ceroid AR Northern epilepsy variant Lipofuscinoses Comprehensive Epilepsy And Autism; 612100: {Autism susceptibility 15} Comprehensive Epilepsy; Focal, Generalized, 610042: AR Cortical dysplasia-focal epilepsy And Myoclonic Epilepsy; Syndromic Epilepsy CNTNAP2 604569 AR syndrome And Intellectual Disability; Comprehensive 610042: AR Pitt-Hopkins like syndrome 1 Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; COL18A1 120328 267750: AR Knobloch syndrome, type 1 AR Comprehensive Epilepsy; Neuronal Migration 611773: AD Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 607595: AD Brain small vessel disease with or without ocular anomalies Comprehensive Epilepsy And Autism; COL4A1 120130 614519: {Hemorrhage, intracerebral, AD Comprehensive Epilepsy; Neuronal Migration susceptibility to} 175780: AD Porencephaly 1 180000: AD ?Retinal arteries, tortuosity of 269160: Schizencephaly 614417: AR, AD Epilepsy, familial temporal Comprehensive Epilepsy And Autism; CPA6 609562 lobe, 5 Comprehensive Epilepsy; Focal, Generalized, AD, AR 614418: AR Febrile seizures, familial, 11 And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy CREBBP 600140 180849: AD Rubinstein-Taybi syndrome 1 AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy And Autism; 254800: AR Epilepsy, progressive myoclonic CSTB 601145 Comprehensive Epilepsy; Focal, Generalized, AR 1A (Unverricht and Lundborg) And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; CTSD 116840 610127: AR Ceroid lipofuscinosis, neuronal, 10 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses Comprehensive Epilepsy And Autism; 300354: XLR Mental retardation, XL, CUL4B 300304 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL syndromic 15 (Cabezas type) And Intellectual Disability Comprehensive Epilepsy And Autism; 300067: XL Lissencephaly, XL DCX 300121 Comprehensive Epilepsy; Syndromic Epilepsy XL 300067: XL Subcortical laminal heterotopia, XL And Intellectual Disability; Microcephaly Comprehensive Epilepsy And Autism; 604364: AD Epilepsy, familial focal, with DEPDC5 614191 Comprehensive Epilepsy; Focal, Generalized, AD variable foci 1 And Myoclonic Epilepsy

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; 162350: AD Ceroid lipofuscinosis, neuronal, 4, DNAJC5 611203 Comprehensive Epilepsy; Neuronal Ceroid AD Parry type Lipofuscinoses 616346: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; DNM1 602377 AD infantile, 31 Comprehensive Epilepsy; Infantile Epilepsy 615859: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; DOCK7 615730 AR infantile, 23 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Infantile Epilepsy; DYRK1A 600855 614104: AD Mental retardation, AD 7 AD Syndromic Epilepsy And Intellectual Disability; Comprehensive Autism Spectrum Disorder 616409: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; EEF1A2 602959 infantile, 33 Comprehensive Epilepsy; Infantile Epilepsy; AD 616393: AD Mental retardation, AD 38 Syndromic Epilepsy And Intellectual Disability 607631: AD {Epilepsy, juvenile absence, Comprehensive Epilepsy And Autism; susceptibility to, 1} EFHC1 608815 Comprehensive Epilepsy; Focal, Generalized, AD 254770: AD {Myoclonic epilepsy, juvenile, And Myoclonic Epilepsy susceptibility to, 1} Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy EHMT1 607001 610253: AD Kleefstra syndrome 1 AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; EMX2 600035 269160: Schizencephaly None Comprehensive Epilepsy; Neuronal Migration Comprehensive Epilepsy And Autism; 254780: AR Epilepsy, progressive myoclonic EPM2A 607566 Comprehensive Epilepsy; Focal, Generalized, AR 2A (Lafora) And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 305400: XLR Aarskog-Scott syndrome Comprehensive Epilepsy; Syndromic Epilepsy FGD1 300546 305400: XLR Mental retardation, XL syndromic XLR, XL And Intellectual Disability; Comprehensive 16 Autism Spectrum Disorder 100800: AD Achondroplasia 109800: Bladder cancer, somatic 610474: AR, AD CATSHL syndrome 603956: Cervical cancer, somatic 114500: Colorectal cancer, somatic 612247: AD Crouzon syndrome with acanthosis nigricans Comprehensive Epilepsy And Autism; FGFR3 134934 146000: AD Hypochondroplasia AD, AR Comprehensive Epilepsy; Neuronal Migration 149730: AD LADD syndrome 602849: AD Muenke syndrome 162900: Nevus, epidermal, somatic 616482: AD SADDAN 273300: Spermatocytic seminoma, somatic 187600: AD Thanatophoric dysplasia, type I 187601: AD Thanatophoric dysplasia, type II 613153: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Comprehensive Epilepsy And Autism; 606612: AR Muscular dystrophy- FKRP 606596 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with or without Microcephaly mental retardation), type B, 5 607155: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 5 314400: XLR Cardiac valvular dysplasia, XL 300048: XLR Congenital short bowel syndrome 300321: XL ?FG syndrome 2 305620: XLR Frontometaphyseal dysplasia 1 300049: XLD Heterotopia, periventricular 300048: XLR Intestinal pseudoobstruction, Comprehensive Epilepsy And Autism; XLD, XLR, FLNA 300017 neuronal Comprehensive Epilepsy; Neuronal Migration XL 309350: XLD Melnick-Needles syndrome 311300: XLD Otopalatodigital syndrome, type I 304120: XLD Otopalatodigital syndrome, type II 300244: XLD Terminal osseous dysplasia

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; 225790: AR Proliferative vasculopathy and FLVCR2 610865 Comprehensive Epilepsy; Syndromic Epilepsy AR hydranencephaly-hydrocephaly syndrome And Intellectual Disability Comprehensive Epilepsy And Autism; 613068: AR Neurodegeneration due to Comprehensive Epilepsy; Focal, Generalized, FOLR1 136430 AR cerebral folate transport deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy FOXG1 164874 613454: AD Rett syndrome, congenital variant AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly 611136: {Epilepsy, childhood absence, susceptibility to, 4} 611136: {Epilepsy, juvenile myoclonic, Comprehensive Epilepsy And Autism; GABRA1 137160 AD susceptibility to, 5} Comprehensive Epilepsy; Infantile Epilepsy 615744: AD Epileptic encephalopathy, early infantile, 19 617829: AD Epileptic encephalopathy, infantile Comprehensive Epilepsy And Autism; GABRB2 600232 AD or early childhood, 2 Comprehensive Epilepsy; Infantile Epilepsy 612269: {Epilepsy, childhood absence, Comprehensive Epilepsy And Autism; susceptibility to, 5} GABRB3 137192 Comprehensive Epilepsy; Focal, Generalized, AD 617113: AD Epileptic encephalopathy, early And Myoclonic Epilepsy infantile, 43 613060: AD {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} Comprehensive Epilepsy And Autism; 613060: AD {Epilepsy, idiopathic generalized, GABRD 137163 Comprehensive Epilepsy; Focal, Generalized, AD 10} And Myoclonic Epilepsy 613060: AD {Epilepsy, juvenile myoclonic, susceptibility to} 607681: AD {Epilepsy, childhood absence, susceptibility to, 2} Comprehensive Epilepsy And Autism; GABRG2 137164 611277: AD Epilepsy, generalized, with febrile Comprehensive Epilepsy; Focal, Generalized, AD seizures plus, type 3 And Myoclonic Epilepsy 611277: AD Febrile seizures, familial, 8 Comprehensive Epilepsy And Autism; 612736: AR Cerebral creatine deficiency GAMT 601240 Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome 2 And Intellectual Disability Comprehensive Epilepsy And Autism; 612718: AR Cerebral creatine deficiency GATM 602360 Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome 3 And Intellectual Disability Comprehensive Epilepsy And Autism; GCSH 238330 605899: AR ?Glycine encephalopathy AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; GLDC 238300 605899: AR Glycine encephalopathy AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 615849: AD Culler-Jones syndrome GLI2 165230 Comprehensive Epilepsy; Syndromic Epilepsy AD 610829: AD Holoprosencephaly 9 And Intellectual Disability; Microcephaly 615473: AD Epileptic encephalopathy, early infantile, 17 Comprehensive Epilepsy And Autism; GNAO1 139311 AD 617493: AD Neurodevelopmental disorder with Comprehensive Epilepsy; Infantile Epilepsy involuntary movements 613065: Leukemia, acute lymphoblastic, Comprehensive Epilepsy And Autism; GNB1 139380 somatic Comprehensive Epilepsy; Focal, Generalized, AD 616973: AD Mental retardation, AD 42 And Myoclonic Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; GOSR2 604027 614018: AR Epilepsy, progressive myoclonic 6 Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 312870: XLR Simpson-Golabi-Behmel Comprehensive Epilepsy; Syndromic Epilepsy GPC3 300037 syndrome, type 1 And Intellectual Disability; Comprehensive XLR 194070: Wilms tumor, somatic Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; GPHN 603930 615501: AR Molybdenum cofactor deficiency C AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; GRIA3 305915 300699: XLR Mental retardation, XL 94 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL And Intellectual Disability; Comprehensive

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Autism Spectrum Disorder; STAT Autism Spectrum Disorder 614254: AD Neurodevelopmental disorder with or without hyperkinetic movements and Comprehensive Epilepsy And Autism; seizures, AD GRIN1 138249 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 617820: AR Neurodevelopmental disorder with And Intellectual Disability or without hyperkinetic movements and seizures, AR Comprehensive Epilepsy And Autism; 245570: AD Epilepsy, focal, with speech GRIN2A 138253 Comprehensive Epilepsy; Focal, Generalized, AD disorder and with or without mental retardation And Myoclonic Epilepsy 616139: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; GRIN2B 138252 infantile, 27 Comprehensive Epilepsy; Infantile Epilepsy; AD 613970: AD Mental retardation, AD 6 Comprehensive Autism Spectrum Disorder 615871: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; HCN1 602780 AD infantile, 24 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 613123: Brugada syndrome 8 HCN4 605206 Comprehensive Epilepsy; Syndromic Epilepsy AD 163800: AD Sick sinus syndrome 2 And Intellectual Disability Comprehensive Epilepsy And Autism; HIP1 601767 176807: AD {Prostate cancer, progression of} AD Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 617391: AD Epileptic encephalopathy, early HNRNPU 602869 Comprehensive Epilepsy; Syndromic Epilepsy AD infantile, 54 And Intellectual Disability Comprehensive Epilepsy And Autism; HSD17B10 300256 300438: XLD HSD10 mitochondrial disease Comprehensive Epilepsy; Syndromic Epilepsy XLD And Intellectual Disability 600142: AR CARASIL syndrome 616779: AD Cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy, Comprehensive Epilepsy And Autism; HTRA1 602194 type 2 Comprehensive Epilepsy; Focal, Generalized, AD, AR 610149: {Macular degeneration, age-related, 7} And Myoclonic Epilepsy 610149: {Macular degeneration, age-related, neovascular type} Comprehensive Epilepsy And Autism; IQSEC2 300522 309530: XLD Mental retardation, XL 1/78 Comprehensive Epilepsy; Syndromic Epilepsy XLD, XL And Intellectual Disability 616647: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; ITPA 147520 infantile, 35 AR Comprehensive Epilepsy; Infantile Epilepsy 613850: [Inosine triphosphatase deficiency] Comprehensive Epilepsy And Autism; KANSL1 612452 610443: AD Koolen-De Vries syndrome Comprehensive Epilepsy; Syndromic Epilepsy AD And Intellectual Disability Comprehensive Epilepsy And Autism; 160120: AD Episodic ataxia/myokymia KCNA1 176260 Comprehensive Epilepsy; Syndromic Epilepsy AD syndrome And Intellectual Disability Comprehensive Epilepsy And Autism; 616366: AD Epileptic encephalopathy, early KCNA2 176262 Comprehensive Epilepsy; Infantile Epilepsy; AD infantile, 32 Syndromic Epilepsy And Intellectual Disability 616056: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; KCNB1 600397 AD infantile, 26 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; KCNJ1 600359 241200: AR Bartter syndrome, type 2 Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability 600791: AR Enlarged vestibular aqueduct, Comprehensive Epilepsy And Autism; KCNJ10 602208 digenic Comprehensive Epilepsy; Syndromic Epilepsy AR 612780: AR SESAME syndrome And Intellectual Disability 610582: AD Diabetes mellitus, transient neonatal, 3 125853: AD {Diabetes mellitus, type 2, susceptibility to} Comprehensive Epilepsy And Autism; 606176: AR, AD Diabetes, permanent KCNJ11 600937 Comprehensive Epilepsy; Focal, Generalized, AD, AR neonatal, with or without neurologic features And Myoclonic Epilepsy 601820: AR Hyperinsulinemic hypoglycemia, familial, 2 616329: AD Maturity-onset diabetes of the young, type 13

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 617643: AR ?Cerebellar atrophy, developmental delay, and seizures Comprehensive Epilepsy And Autism; KCNMA1 600150 609446: AD Paroxysmal nonkinesigenic Comprehensive Epilepsy; Focal, Generalized, AD, AR dyskinesia, 3, with or without generalized And Myoclonic Epilepsy epilepsy 613720: AD Epileptic encephalopathy, early infantile, 7 Comprehensive Epilepsy And Autism; KCNQ2 602235 AD 121200: AD Myokymia Comprehensive Epilepsy; Infantile Epilepsy 121200: AD Seizures, benign neonatal, 1 Comprehensive Epilepsy And Autism; KCNQ3 602232 121201: AD Seizures, benign neonatal, 2 Comprehensive Epilepsy; Focal, Generalized, AD And Myoclonic Epilepsy 615005: AD Epilepsy, nocturnal frontal lobe, 5 Comprehensive Epilepsy And Autism; KCNT1 608167 614959: AD Epileptic encephalopathy, early AD Comprehensive Epilepsy; Infantile Epilepsy infantile, 14 Comprehensive Epilepsy And Autism; 611726: AR Epilepsy, progressive myoclonic 3, KCTD7 611725 Comprehensive Epilepsy; Focal, Generalized, AR with or without intracellular inclusions And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300534: XLR Mental retardation, XL, KDM5C 314690 And Intellectual Disability; Comprehensive XLR, XL syndromic, Claes-Jensen type Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 609460: AR Goldberg-Shprintzen megacolon KIF1BP 609367 Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome And Intellectual Disability Comprehensive Epilepsy And Autism; KMT2D 602113 147920: AD Kabuki syndrome 1 Comprehensive Epilepsy; Syndromic Epilepsy AD And Intellectual Disability 116860: AD Cavernous malformations of CNS and retina 116860: AD Cerebral cavernous Comprehensive Epilepsy And Autism; KRIT1 604214 malformations-1 Comprehensive Epilepsy; Focal, Generalized, AD 116860: AD Hyperkeratotic cutaneous And Myoclonic Epilepsy capillary-venous malformations associated with cerebral capillary malformations 613154: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and Comprehensive Epilepsy And Autism; eye anomalies), type A, 6 LARGE1 603590 Comprehensive Epilepsy; Neuronal Migration; AR 608840: AR Muscular dystrophy- Microcephaly dystroglycanopathy (congenital with mental retardation), type B, 6 215140: AR Greenberg skeletal dysplasia 169400: AD Pelger-Huet anomaly Comprehensive Epilepsy And Autism; LBR 600024 618019: Pelger-Huet anomaly with mild Comprehensive Epilepsy; Syndromic Epilepsy AD, AR skeletal anomalies And Intellectual Disability 613471: AD ?Reynolds syndrome Comprehensive Epilepsy And Autism; LGI1 604619 600512: AD Epilepsy, familial temporal lobe, 1 Comprehensive Epilepsy; Syndromic Epilepsy AD And Intellectual Disability 614462: AR Hyperglycinemia, lactic acidosis, Comprehensive Epilepsy And Autism; LIAS 607031 AR and seizures Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; MAGI2 606382 617609: AR Nephrotic syndrome 15 AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; MAPK10 602897 None None Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy MBD5 611472 156200: AD Mental retardation, AD 1 AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; MCPH1 607117 251200: AR Microcephaly 1, primary, AR Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability; Microcephaly 300496: IC, XL, MF {Autism susceptibility, XL Comprehensive Epilepsy And Autism; 3} XLD, XLR, MECP2 300005 Comprehensive Epilepsy; Infantile Epilepsy; 300673: XLR Encephalopathy, neonatal severe XL, IC, MF Syndromic Epilepsy And Intellectual Disability; 300260: XLR Mental retardation, XL

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance syndromic, Lubs type Comprehensive Autism Spectrum Disorder; 300055: XLR Mental retardation, XL, STAT Autism Spectrum Disorder; Microcephaly syndromic 13 312750: XLD Rett syndrome 312750: XLD Rett syndrome, atypical 312750: XLD Rett syndrome, preserved speech variant 613443: AD Chromosome 5q14.3 deletion Comprehensive Epilepsy And Autism; syndrome Comprehensive Epilepsy; Syndromic Epilepsy MEF2C 600662 613443: AD Mental retardation, stereotypic AD And Intellectual Disability; Comprehensive movements, epilepsy, and/or cerebral Autism Spectrum Disorder malformations 610951: AR Ceroid lipofuscinosis, neuronal, 7 Comprehensive Epilepsy And Autism; MFSD8 611124 616170: AR Macular dystrophy with central Comprehensive Epilepsy; Neuronal Ceroid AR cone involvement Lipofuscinoses 236250: AR Homocystinuria due to MTHFR deficiency 601634: AR {Neural tube defects, susceptibility to} Comprehensive Epilepsy And Autism; MTHFR 607093 AD, AR 181500: AD {Schizophrenia, susceptibility to} Comprehensive Epilepsy; Infantile Epilepsy 188050: AD {Thromboembolism, susceptibility to} {Vascular disease, susceptibility to} (3) 607341: Focal cortical dysplasia, type II, Comprehensive Epilepsy And Autism; MTOR 601231 somatic Comprehensive Epilepsy; Syndromic Epilepsy AD 616638: AD Smith-Kingsmore syndrome And Intellectual Disability 614019: AR Lissencephaly 4 (with Comprehensive Epilepsy And Autism; NDE1 609449 microcephaly) Comprehensive Epilepsy; Focal, Generalized, AR 605013: AR ?Microhydranencephaly And Myoclonic Epilepsy; Microcephaly Comprehensive Epilepsy And Autism; 252010: AR, XLD, Mitochondrial Mitochondrial NDUFA1 300078 Comprehensive Epilepsy; Focal, Generalized, AR, XLD complex I deficiency And Myoclonic Epilepsy 615833: AR ?Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; NECAP1 611623 AR infantile, 21 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 254780: AR Epilepsy, progressive myoclonic NHLRC1 608072 Comprehensive Epilepsy; Focal, Generalized, AR 2B (Lafora) And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy NIPBL 608667 122470: AD Cornelia de Lange syndrome 1 AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly 125310: AD Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 Comprehensive Epilepsy And Autism; NOTCH3 600276 AD 130720: AD Lateral meningocele syndrome Comprehensive Epilepsy; Migraine 615293: AD ?Myofibromatosis, infantile 2 Comprehensive Epilepsy And Autism; 617116: AD Epilepsy, familial focal, with NPRL2 607072 Comprehensive Epilepsy; Focal, Generalized, AD variable foci 2 And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 617118: AD Epilepsy, familial focal, with NPRL3 600928 Comprehensive Epilepsy; Focal, Generalized, AD variable foci 3 And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 614325: AR Pitt-Hopkins-like syndrome 2 NRXN1 600565 And Intellectual Disability; Comprehensive AR 614332: {Schizophrenia, susceptibility to, 17} Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 300486: XLR Mental retardation, XL, with Comprehensive Epilepsy; Syndromic Epilepsy OPHN1 300127 cerebellar hypoplasia and distinctive facial And Intellectual Disability; Comprehensive XLR, XL appearance Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 607432: IC Lissencephaly 1 Comprehensive Epilepsy; Neuronal Migration; PAFAH1B1 601545 IC 607432: IC Subcortical laminar heterotopia Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy And Autism; PAK3 300142 300558: XLR Mental retardation, XL 30/47 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL And Intellectual Disability

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 607236: AR HARP syndrome Comprehensive Epilepsy And Autism; PANK2 606157 234200: AR Neurodegeneration with brain iron Comprehensive Epilepsy; Syndromic Epilepsy AR accumulation 1 And Intellectual Disability 106210: AD Aniridia 604229: Anterior segment dysgenesis 5, multiple subtypes 106210: AD Cataract with late-onset corneal dystrophy Comprehensive Epilepsy And Autism; PAX6 607108 120430: AD ?Coloboma of optic nerve AD Comprehensive Epilepsy; Neuronal Migration 120200: AD ?Coloboma, ocular 136520: AD Foveal hypoplasia 1 148190: AD Keratitis 120430: AD ?Morning glory disc anomaly 165550: AD Optic nerve hypoplasia Comprehensive Epilepsy And Autism; 300088: XL Epileptic encephalopathy, early Comprehensive Epilepsy; Infantile Epilepsy; PCDH19 300460 XL infantile, 9 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; PDCD10 609118 603285: Cerebral cavernous malformations 3 Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 301900: XLR Borjeson-Forssman-Lehmann Comprehensive Epilepsy; Syndromic Epilepsy PHF6 300414 XLR syndrome And Intellectual Disability; Comprehensive Autism Spectrum Disorder 300868: XLR Multiple congenital anomalies- hypotonia-seizures syndrome 2 Comprehensive Epilepsy And Autism; PIGA 311770 XLR 300818: Paroxysmal nocturnal hemoglobinuria, Comprehensive Epilepsy; Infantile Epilepsy somatic 614749: AR Hyperphosphatasia with mental Comprehensive Epilepsy And Autism; PIGO 614730 AR retardation syndrome 2 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 239300: AR Hyperphosphatasia with mental PIGV 610274 Comprehensive Epilepsy; Syndromic Epilepsy AR retardation syndrome 1 And Intellectual Disability 256600: AR Infantile neuroaxonal dystrophy 1 Comprehensive Epilepsy And Autism; 610217: AR Neurodegeneration with brain iron PLA2G6 603604 Comprehensive Epilepsy; Syndromic Epilepsy AR accumulation 2B And Intellectual Disability 612953: AR Parkinson disease 14, AR 613722: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; PLCB1 607120 AR infantile, 12 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 312080: XLR Pelizaeus-Merzbacher disease PLP1 300401 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL 312920: XLR Spastic paraplegia 2, XL And Intellectual Disability Comprehensive Epilepsy And Autism; 616267: AR Ataxia-oculomotor apraxia 4 Comprehensive Epilepsy; Infantile Epilepsy; PNKP 605610 613402: AR Microcephaly, seizures, and AR Comprehensive Autism Spectrum Disorder; developmental delay Microcephaly 610090: AR Pyridoxamine 5'-phosphate Comprehensive Epilepsy And Autism; PNPO 603287 AR oxidase deficiency Comprehensive Epilepsy; Infantile Epilepsy 203700: AR Mitochondrial DNA depletion syndrome 4A (Alpers type) 613662: AR Mitochondrial DNA depletion syndrome 4B (MNGIE type) Comprehensive Epilepsy And Autism; 607459: AR Mitochondrial recessive ataxia POLG 174763 Comprehensive Epilepsy; Migraine; Syndromic AD, AR syndrome (includes SANDO and SCAE) Epilepsy And Intellectual Disability 157640: AD Progressive external ophthalmoplegia, AD 1 258450: AR Progressive external ophthalmoplegia, AR 1 253280: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 613151: AR Muscular dystrophy- Comprehensive Epilepsy And Autism; POMGNT1 606822 dystroglycanopathy (congenital with mental Comprehensive Epilepsy; Neuronal Migration; AR retardation), type B, 3 Microcephaly 613157: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 3 617123: AR Retinitis pigmentosa 76

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 236670: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Comprehensive Epilepsy And Autism; 613155: AR Muscular dystrophy- POMT1 607423 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with mental Microcephaly retardation), type B, 1 609308: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 1 613150: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Comprehensive Epilepsy And Autism; 613156: AR Muscular dystrophy- POMT2 607439 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with mental Microcephaly retardation), type B, 2 613158: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 2 Comprehensive Epilepsy And Autism; PPT1 600722 256730: AR Ceroid lipofuscinosis, neuronal, 1 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Neuronal Migration; PQBP1 300463 309500: XLR Renpenning syndrome XLR Syndromic Epilepsy And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 612437: AR Epilepsy, progressive myoclonic PRICKLE1 608500 Comprehensive Epilepsy; Focal, Generalized, AR 1B And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; PRICKLE2 608501 None Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy 602066: AD Convulsions, familial infantile, with paroxysmal choreoathetosis Comprehensive Epilepsy And Autism; PRRT2 614386 128200: AD Episodic kinesigenic dyskinesia 1 AD Comprehensive Epilepsy; Migraine 605751: AD Seizures, benign familial infantile, 2 153480: Bannayan-Riley-Ruvalcaba syndrome 158350: AD Cowden syndrome 1 613028: {Glioma susceptibility 2} Comprehensive Epilepsy And Autism; 158350: AD Lhermitte-Duclos syndrome Comprehensive Epilepsy; Focal, Generalized, 605309: AD Macrocephaly/autism syndrome PTEN 601728 And Myoclonic Epilepsy; Comprehensive AD, AR 607174: AD {Meningioma} Autism Spectrum Disorder; STAT Autism PTEN hamartoma tumor syndrome (3) Spectrum Disorder 176807: {Prostate cancer, somatic} 276950: AR VATER association with macrocephaly and ventriculomegaly Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300271: XLR Mental retardation, XL 72 RAB39B 300774 And Intellectual Disability; Comprehensive XLR, XL 311510: XLR ?Waisman syndrome Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy RAI1 607642 182290: AD, IC Smith-Magenis syndrome AD, IC And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Focal, Generalized, RARS2 611524 611523: AR Pontocerebellar hypoplasia, type 6 AR And Myoclonic Epilepsy; Infantile Epilepsy; Comprehensive Autism Spectrum Disorder 616436: AD {Epilepsy, familial temporal lobe, Comprehensive Epilepsy And Autism; 7} RELN 600514 Comprehensive Epilepsy; Neuronal Migration; AD, AR 257320: AR Lissencephaly 2 (Norman-Roberts Microcephaly type) Comprehensive Epilepsy And Autism; RNASEH2A 606034 610333: AR Aicardi-Goutieres syndrome 4 AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; RNASEH2B 610326 610181: AR Aicardi-Goutieres syndrome 2 Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; RNASEH2C 610330 610329: AR Aicardi-Goutieres syndrome 3 Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability Comprehensive Epilepsy And Autism; ROGDI 614574 226750: AR Kohlschutter-Tonz syndrome Comprehensive Epilepsy; Infantile Epilepsy; AR Syndromic Epilepsy And Intellectual Disability Comprehensive Epilepsy And Autism; 612952: AR Aicardi-Goutieres syndrome 5 SAMHD1 606754 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 614415: AD ?Chilblain lupus 2 And Intellectual Disability Comprehensive Epilepsy And Autism; 254900: AR Epilepsy, progressive myoclonic 4, SCARB2 602257 Comprehensive Epilepsy; Focal, Generalized, AR with or without renal failure And Myoclonic Epilepsy 604403: AD Epilepsy, generalized, with febrile seizures plus, type 2 Comprehensive Epilepsy And Autism; 607208: AD Epileptic encephalopathy, early Comprehensive Epilepsy; Migraine; Syndromic SCN1A 182389 AD infantile, 6 (Dravet syndrome) Epilepsy And Intellectual Disability; 604403: AD Febrile seizures, familial, 3A Comprehensive Autism Spectrum Disorder 609634: AD Migraine, familial hemiplegic, 3 615377: AD Atrial fibrillation, familial, 13 612838: Brugada syndrome 5 612838: Cardiac conduction defect, Comprehensive Epilepsy And Autism; nonspecific SCN1B 600235 Comprehensive Epilepsy; Focal, Generalized, AD, AR 604233: AD Epilepsy, generalized, with febrile And Myoclonic Epilepsy seizures plus, type 1 617350: AR Epileptic encephalopathy, early infantile, 52 613721: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; infantile, 11 SCN2A 182390 Comprehensive Epilepsy; Infantile Epilepsy; AD 607745: AD Seizures, benign familial infantile, Comprehensive Autism Spectrum Disorder 3 617935: AD Epilepsy, familial focal, with Comprehensive Epilepsy And Autism; variable foci 4 SCN3A 182391 Comprehensive Epilepsy; Focal, Generalized, AD 617938: AD Epileptic encephalopathy, early And Myoclonic Epilepsy infantile, 62 614022: AD Atrial fibrillation, familial, 10 601144: AD Brugada syndrome 1 601154: AD Cardiomyopathy, dilated, 1E 113900: AD Heart block, nonprogressive Comprehensive Epilepsy And Autism; 113900: AD Heart block, progressive, type IA SCN5A 600163 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 603830: AD Long QT syndrome-3 And Intellectual Disability 608567: AR Sick sinus syndrome 1 272120: AR {Sudden infant death syndrome, susceptibility to} 603829: Ventricular fibrillation, familial, 1 614306: AD ?Cognitive impairment with or without cerebellar ataxia 614558: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SCN8A 600702 AD infantile, 13 Comprehensive Epilepsy; Infantile Epilepsy 617080: AD Seizures, benign familial infantile, 5 607208: AD {Dravet syndrome, modifier of} 613863: AD Epilepsy, generalized, with febrile seizures plus, type 7 133020: AD Erythermalgia, primary Comprehensive Epilepsy And Autism; 613863: AD Febrile seizures, familial, 3B SCN9A 603415 Comprehensive Epilepsy; Focal, Generalized, AD, AR 243000: AR HSAN2D, AR And Myoclonic Epilepsy 243000: AR Insensitivity to pain, congenital 167400: AD Paroxysmal extreme pain disorder, 133020: AD Small fiber neuropathy Comprehensive Epilepsy And Autism; 604218: AD Encephalopathy, familial, with SERPINI1 602445 Comprehensive Epilepsy; Focal, Generalized, AD neuroserpin inclusion bodies And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 616078: AD Mental retardation, AD 29 Comprehensive Epilepsy; Syndromic Epilepsy SETBP1 611060 269150: AD Schinzel-Giedion midface AD And Intellectual Disability; Comprehensive retraction syndrome Autism Spectrum Disorder

Mail: One Gustave L. Levy Place, Box 1497 CLIA #: 33D2097541 Specimens: 1428 Madison Ave, Atran Bldg, T: 800-298-6470 Page 43 of 125 Rm 2-25 New York, NY 10029 F: 212-241-0139 www.sema4genomics.com

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 606232: AD Phelan-McDermid syndrome SHANK3 606230 And Intellectual Disability; Comprehensive AD 613950: {Schizophrenia 15} Autism Spectrum Disorder; STAT Autism Spectrum Disorder 616341: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SIK1 605705 AD infantile, 30 Comprehensive Epilepsy; Infantile Epilepsy 616685: AD {Epilepsy, idiopathic generalized, Comprehensive Epilepsy And Autism; susceptibility to, 14} SLC12A5 606726 Comprehensive Epilepsy; Infantile Epilepsy; AD, AR 616645: AR Epileptic encephalopathy, early Syndromic Epilepsy And Intellectual Disability infantile, 34 615905: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SLC13A5 608305 AR infantile, 25 Comprehensive Epilepsy; Infantile Epilepsy 607483: AR Thiamine metabolism dysfunction Comprehensive Epilepsy And Autism; SLC19A3 606152 syndrome 2 (biotin- or thiamine-responsive Comprehensive Epilepsy; Syndromic Epilepsy AR encephalopathy type 2) And Intellectual Disability 617105: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SLC1A2 600300 AD infantile, 41 Comprehensive Epilepsy; Infantile Epilepsy 607196: AR Microcephaly, Amish type Comprehensive Epilepsy And Autism; SLC25A19 606521 613710: AR Thiamine metabolism dysfunction Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome 4 (progressive polyneuropathy type) And Intellectual Disability; Microcephaly 609304: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SLC25A22 609302 AR infantile, 3 Comprehensive Epilepsy; Infantile Epilepsy 601042: AD Dystonia 9 614847: AD {Epilepsy, idiopathic generalized, susceptibility to, 12} 606777: AR, AD GLUT1 deficiency syndrome Comprehensive Epilepsy And Autism; SLC2A1 138140 1, infantile onset, severe Comprehensive Epilepsy; Migraine; Syndromic AD, AR 612126: AD GLUT1 deficiency syndrome 2, Epilepsy And Intellectual Disability childhood onset 608885: AD Stomatin-deficient cryohydrocytosis with neurologic defects 300896: XLD, Somatic mosaicism Congenital Comprehensive Epilepsy And Autism; SLC35A2 314375 XLD disorder of glycosylation, type IIm Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; SLC4A10 605556 None Comprehensive Epilepsy; Syndromic Epilepsy None And Intellectual Disability Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Focal, Generalized, SLC6A1 137165 616421: AD Myoclonic-atonic epilepsy AD And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Infantile Epilepsy; 300352: XLR Cerebral creatine deficiency SLC6A8 300036 Syndromic Epilepsy And Intellectual Disability; XLR syndrome 1 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300243: XLD Mental retardation, XL SLC9A6 300231 And Intellectual Disability; Comprehensive XLD, XL syndromic, Christianson type Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy SMC1A 300040 300590: XLD Cornelia de Lange syndrome 2 XLD And Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy And Autism; SMC3 606062 610759: AD Cornelia de Lange syndrome 3 Comprehensive Epilepsy; Syndromic Epilepsy AD And Intellectual Disability; Microcephaly Comprehensive Epilepsy And Autism; 309583: XLR Mental retardation, XL, Snyder- SMS 300105 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL Robinson type And Intellectual Disability Comprehensive Epilepsy And Autism; 616330: AD ?Myasthenic syndrome, Comprehensive Epilepsy; Focal, Generalized, SNAP25 600322 AD congenital, 18 And Myoclonic Epilepsy; Syndromic Epilepsy And Intellectual Disability

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 609528: AR Cerebral dysgenesis, neuropathy, Comprehensive Epilepsy And Autism; SNAP29 604202 ichthyosis, and palmoplantar keratoderma Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome And Intellectual Disability 613477: AD Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SPTAN1 182810 AD infantile, 5 Comprehensive Epilepsy; Infantile Epilepsy 615006: AR ?Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; ST3GAL3 606494 infantile, 15 AR Comprehensive Epilepsy; Infantile Epilepsy 611090: AR Mental retardation, AR 12 Comprehensive Epilepsy And Autism; 609056: AR Salt and pepper developmental ST3GAL5 604402 Comprehensive Epilepsy; Syndromic Epilepsy AR regression syndrome And Intellectual Disability 616172: AD Generalized epilepsy with febrile Comprehensive Epilepsy And Autism; STX1B 601485 AD seizures plus, type 9 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy And Autism; 612164: AD Epileptic encephalopathy, early STXBP1 602926 Comprehensive Epilepsy; Infantile Epilepsy; AD infantile, 4 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 300491: XLR, XLD Epilepsy, XL, with variable Comprehensive Epilepsy; Syndromic Epilepsy XLD, XLR, SYN1 313440 learning disabilities and behavior disorders And Intellectual Disability; Comprehensive XL Autism Spectrum Disorder Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy SYNGAP1 603384 612621: AD Mental retardation, AD 5 AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; SYP 313475 300802: XLD Mental retardation, XL 96 Comprehensive Epilepsy; Syndromic Epilepsy XLD, XL And Intellectual Disability 615476: AR Epileptic encephalopathy, early Comprehensive Epilepsy And Autism; SZT2 615463 AR infantile, 18 Comprehensive Epilepsy; Infantile Epilepsy 220500: AR DOORS syndrome 614617: AR Deafness , AR 86 616044: AD Deafness, AD 65 Comprehensive Epilepsy And Autism; TBC1D24 613577 615338: AR Epileptic encephalopathy, early AD, AR Comprehensive Epilepsy; Infantile Epilepsy infantile, 16 605021: AR Myoclonic epilepsy, infantile, familial 217095: Conotruncal anomaly face syndrome Comprehensive Epilepsy And Autism; 188400: AD DiGeorge syndrome TBX1 602054 Comprehensive Epilepsy; Syndromic Epilepsy AD 187500: AD Tetralogy of Fallot And Intellectual Disability 192430: AD Velocardiofacial syndrome Comprehensive Epilepsy And Autism; 613267: AD Corneal dystrophy, Fuchs Comprehensive Epilepsy; Syndromic Epilepsy TCF4 602272 endothelial, 3 AD And Intellectual Disability; Comprehensive 610954: AD Pitt-Hopkins syndrome Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 204500: AR Ceroid lipofuscinosis, neuronal, 2 TPP1 607998 Comprehensive Epilepsy; Neuronal Ceroid AR 609270: AR Spinocerebellar ataxia, AR 7 Lipofuscinoses 225750: AR, AD Aicardi-Goutieres syndrome 1, dominant and recessive 610448: AD Chilblain lupus Comprehensive Epilepsy And Autism; TREX1 606609 152700: AD {Systemic lupus erythematosus, Comprehensive Epilepsy; Syndromic Epilepsy AD, AR susceptibility to} And Intellectual Disability 192315: AD Vasculopathy, retinal, with cerebral leukodystrophy Comprehensive Epilepsy And Autism; TRPM6 607009 602014: AR Hypomagnesemia 1, intestinal Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy Comprehensive Epilepsy And Autism; 607341: Focal cortical dysplasia, type II, Comprehensive Epilepsy; Syndromic Epilepsy somatic TSC1 605284 And Intellectual Disability; Comprehensive AD 606690: Lymphangioleiomyomatosis Autism Spectrum Disorder; STAT Autism 191100: AD Tuberous sclerosis-1 Spectrum Disorder Comprehensive Epilepsy And Autism; 607341: ?Focal cortical dysplasia, type II, Comprehensive Epilepsy; Syndromic Epilepsy somatic TSC2 191092 And Intellectual Disability; Comprehensive AD 606690: Lymphangioleiomyomatosis, somatic Autism Spectrum Disorder; STAT Autism 613254: AD Tuberous sclerosis-2 Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Neuronal Migration; TUBA1A 602529 611603: AD Lissencephaly 3 AD Comprehensive Autism Spectrum Disorder; Microcephaly 613180: AR Cortical dysplasia, complex, with Comprehensive Epilepsy And Autism; TUBA8 605742 AR other brain malformations 8 Comprehensive Epilepsy; Neuronal Migration 615771: AD Cortical dysplasia, complex, with other brain malformations 6 Comprehensive Epilepsy And Autism; TUBB 191130 AD 156610: AD Symmetric circumferential skin Comprehensive Epilepsy; Neuronal Migration creases, congenital, 1 615763: AD Cortical dysplasia, complex, with Comprehensive Epilepsy And Autism; TUBB2A 615101 AD other brain malformations 5 Comprehensive Epilepsy; Neuronal Migration 610031: AD Cortical dysplasia, complex, with Comprehensive Epilepsy And Autism; TUBB2B 612850 AD other brain malformations 7 Comprehensive Epilepsy; Neuronal Migration 614039: AD Cortical dysplasia, complex, with other brain malformations 1 Comprehensive Epilepsy And Autism; TUBB3 602661 AD 600638: AD Fibrosis of extraocular muscles, Comprehensive Epilepsy; Neuronal Migration congenital, 3A Comprehensive Epilepsy And Autism; 615412: AD Cortical dysplasia, complex, with TUBG1 191135 Comprehensive Epilepsy; Neuronal Migration; AD other brain malformations 4 Microcephaly Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy UBE3A 601623 105830: IC Angelman syndrome And Intellectual Disability; Comprehensive IC Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly 600145: AD Caudal regression syndrome Comprehensive Epilepsy And Autism; VANGL1 610132 182940: AD {Neural tube defects, susceptibility Comprehensive Epilepsy; Syndromic Epilepsy AD to} And Intellectual Disability Comprehensive Epilepsy And Autism; VPS13A 605978 200150: AR Choreoacanthocytosis Comprehensive Epilepsy; Syndromic Epilepsy AR And Intellectual Disability Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy VPS13B 607817 216550: AR Cohen syndrome AR And Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy And Autism; 604317: AR Microcephaly 2, primary, AR, with WDR62 613583 Comprehensive Epilepsy; Syndromic Epilepsy AR or without cortical malformations And Intellectual Disability; Microcephaly 616211: AR Epileptic encephalopathy, early infantile, 28 Comprehensive Epilepsy And Autism; WWOX 605131 133239: Esophageal squamous cell AR Comprehensive Epilepsy; Infantile Epilepsy carcinoma, somatic 614322: AR Spinocerebellar ataxia, AR 12 Comprehensive Epilepsy And Autism; Comprehensive Epilepsy; Syndromic Epilepsy ZEB2 605802 235730: AD Mowat-Wilson syndrome AD And Intellectual Disability; Comprehensive Autism Spectrum Disorder

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive). 2. ALDH7A1: The following ALDH7A1 hg19 coordinates have been excluded from this assay: chr5:125907050-125907056. 3. ARX: The following ARX hg19 coordinates have been excluded from this assay: chrX:25031027-25031926. 4. ATP2A2: The following ATP2A2 hg19 coordinates have been excluded from this assay: chr12:110718408-110718414. 5. ATP6AP2: The following ATP6AP2 hg19 coordinates have been excluded from this assay: chrX:40440306-40440365. 6. ATR: The following ATR hg19 coordinates have been excluded from this assay: chr3:142184699-142184705. 7. CACNA1H: The following CACNA1H hg19 coordinates have been excluded from this assay: chr16:1203726-1204047. 8. CACNA2D2: The following CACNA2D2 hg19 coordinates have been excluded from this assay: chr3:50540637-50540865. 9. CHRNA7: The following CHRNA7 hg19 coordinates have been excluded from this assay: chr15:32460129-32460670 and chr15:32446096- 32446198. 10. COL18A1: The following COL18A1 hg19 coordinates have been excluded from this assay: chr21:46825134-46825167 and chr21:46825282- 46825399. 11. EHMT1: The following EHMT1 hg19 coordinates have been excluded from this assay: chr9:140513469-140513512. 12. EPM2A: The following EPM2A hg19 coordinates have been excluded from this assay: chr6:146056322-146056645. 13. GABRD: The following GABRD hg19 coordinates have been excluded from this assay: chr1:1950851-1950941. 14. HTRA1: The following HTRA1 hg19 coordinates have been excluded from this assay: chr10:124221157-124221651.

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15. IQSEC2: The following IQSEC2 hg19 coordinates have been excluded from this assay: chrX:53263389-53264377. 16. KRIT1: The following KRIT1 hg19 coordinates have been excluded from this assay: chr7:91829915-91829921. 17. MAGI2: The following MAGI2 hg19 coordinates have been excluded from this assay: chr7:77648620-77649304. 18. NOTCH3: The following NOTCH3 hg19 coordinates have been excluded from this assay: chr19:15311587-15311727. 19. SCN1B: The following SCN1B hg19 coordinates have been excluded from this assay: chr19:35521713-35521775. 20. SCN3A: The following SCN3A hg19 coordinates have been excluded from this assay: chr2:165986438-165986817. 21. SHANK3: Analysis of SHANK3 is limited to copy number variants only. 22. ST3GAL5: The following ST3GAL5 hg19 coordinates have been excluded from this assay: chr2:86115935-86116039. 23. SYNGAP1: The following SYNGAP1 hg19 coordinates have been excluded from this assay: chr6:33388030-33388119. 24. TBX1: The following TBX1 hg19 coordinates have been excluded from this assay: chr22:19748416-19748814. 25. TUBB2A: The following TUBB2A hg19 coordinates have been excluded from this assay: chr6:3154085-3155190 and chr6:3156266-3156397. 26. TUBB2B: The following TUBB2B hg19 coordinates have been excluded from this assay: chr6:3224973-3226056. 27. VPS13A: The following VPS13A hg19 coordinates have been excluded from this assay: chr9:79829178-79829419.

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FOCAL, GENERALIZED, AND MYOCLONIC EPILEPSY SUBPANEL

Focal epileptic seizures originate within a single hemisphere of the brain. These may be discretely localized or more widely distributed within the hemisphere. There are two categories classified as “simple partial seizures,” which do not result in an alteration of consciousness, and “complex partial seizures,” which cause a change in behavior or consciousness. Generalized epileptic seizures originate at some point within the brain and rapidly engage both cerebral hemispheres. They can include cortical and subcortical structures but do not necessarily include the entire cortex. Tonic-clonic (also known as grand mal), absence (also known as petit mal), myoclonic, clonic, tonic, and atonic seizures are all types of generalized seizures.

The Focal, Generalized, Myoclonic Epilepsy Subpanel includes the following 52 genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; ACY1 104620 609924: AR Aminoacylase 1 deficiency Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy 604352: AD ?Febrile seizures, familial, 4 Comprehensive Epilepsy and Autism; 605472: AR, DD Usher syndrome, type 2C ADGRV1 602851 Comprehensive Epilepsy; Focal, Generalized, AD, AR, DD 605472: AR, DD Usher syndrome, type 2C, And Myoclonic Epilepsy GPR98/PDZD7 digenic Comprehensive Epilepsy and Autism; 271980: AR Succinic semialdehyde Comprehensive Epilepsy; Focal, Generalized, ALDH5A1 610045 AR dehydrogenase deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ALDH7A1 107323 266100: AR Epilepsy, pyridoxine-dependent Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 614923: Branched-chain ketoacid Comprehensive Epilepsy; Focal, Generalized, BCKDK 614901 None dehydrogenase kinase deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder 611942: {Epilepsy, childhood absence, susceptibility to, 6} Comprehensive Epilepsy and Autism; 611942: {Epilepsy, idiopathic generalized, CACNA1H 607904 Comprehensive Epilepsy; Focal, Generalized, AD susceptibility to, 6} And Myoclonic Epilepsy 617027: AD Hyperaldosteronism, familial, type IV Comprehensive Epilepsy and Autism; CACNA2D2 607082 None Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy 607682: AD {Epilepsy, idiopathic generalized, susceptibility to, 9} Comprehensive Epilepsy and Autism; CACNB4 601949 607682: AD {Epilepsy, juvenile myoclonic, Comprehensive Epilepsy; Focal, Generalized, AD susceptibility to, 6} And Myoclonic Epilepsy 613855: AD Episodic ataxia, type 5 {Calcium, serum level of} (3) 612899: {Epilepsy idiopathic generalized, susceptibility to, 8} Hypercalciuric hypercalcemia (3) 239200: AR, AD Hyperparathyroidism, Comprehensive Epilepsy and Autism; CASR 601199 neonatal Comprehensive Epilepsy; Focal, Generalized, AD, AR 601198: AD Hypocalcemia, AD And Myoclonic Epilepsy 601198: AD Hypocalcemia, AD, with Bartter syndrome 145980: AD Hypocalciuric hypercalcemia, type I Comprehensive Epilepsy and Autism; 603284: AD Cerebral cavernous CCM2 607929 Comprehensive Epilepsy; Focal, Generalized, AD malformations-2 And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 610353: AD Epilepsy, nocturnal frontal lobe, CHRNA2 118502 Comprehensive Epilepsy; Focal, Generalized, AD type 4 And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 600513: AD Epilepsy, nocturnal frontal lobe, 1 CHRNA4 118504 Comprehensive Epilepsy; Focal, Generalized, AD 188890: {Nicotine addiction, susceptibility to} And Myoclonic Epilepsy

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; 118511: Schizophrenia, neurophysiologic CHRNA7 118511 Comprehensive Epilepsy; Focal, Generalized, None defect in And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; CHRNB2 118507 605375: Epilepsy, nocturnal frontal lobe, 3 Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy 607628: AD {Epilepsy, idiopathic generalized, susceptibility to, 11} 607628: AD {Epilepsy, juvenile absence, Comprehensive Epilepsy and Autism; CLCN2 600570 susceptibility to, 2} Comprehensive Epilepsy; Focal, Generalized, AD, AR 607628: AD {Epilepsy, juvenile myoclonic, And Myoclonic Epilepsy susceptibility to, 8} 615651: AR Leukoencephalopathy with ataxia Comprehensive Epilepsy and Autism; 612100: {Autism susceptibility 15} Comprehensive Epilepsy; Focal, Generalized, 610042: Cortical dysplasia-focal epilepsy And Myoclonic Epilepsy; Syndromic Epilepsy CNTNAP2 604569 None syndrome and Intellectual Disability; Comprehensive 610042: Pitt-Hopkins like syndrome 1 Autism Spectrum Disorder; STAT Autism Spectrum Disorder 614417: AR, AD Epilepsy, familial temporal Comprehensive Epilepsy and Autism; CPA6 609562 lobe, 5 Comprehensive Epilepsy; Focal, Generalized, AD, AR 614418: AR Febrile seizures, familial, 11 And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 254800: AR Epilepsy, progressive myoclonic CSTB 601145 Comprehensive Epilepsy; Focal, Generalized, AR 1A (Unverricht and Lundborg) And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 604364: AD Epilepsy, familial focal, with DEPDC5 614191 Comprehensive Epilepsy; Focal, Generalized, AD variable foci 1 And Myoclonic Epilepsy 607631: AD {Epilepsy, juvenile absence, Comprehensive Epilepsy and Autism; susceptibility to, 1} EFHC1 608815 Comprehensive Epilepsy; Focal, Generalized, AD 254770: AD {Myoclonic epilepsy, juvenile, And Myoclonic Epilepsy susceptibility to, 1} Comprehensive Epilepsy and Autism; 254780: AR Epilepsy, progressive myoclonic EPM2A 607566 Comprehensive Epilepsy; Focal, Generalized, AR 2A (Lafora) And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 613068: AR Neurodegeneration due to Comprehensive Epilepsy; Focal, Generalized, FOLR1 136430 AR cerebral folate transport deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder 612269: {Epilepsy, childhood absence, Comprehensive Epilepsy and Autism; susceptibility to, 5} GABRB3 137192 Comprehensive Epilepsy; Focal, Generalized, AD 617113: AD Epileptic encephalopathy, early And Myoclonic Epilepsy infantile, 43 613060: AD {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} Comprehensive Epilepsy and Autism; 613060: AD {Epilepsy, idiopathic generalized, GABRD 137163 Comprehensive Epilepsy; Focal, Generalized, AD 10} And Myoclonic Epilepsy 613060: AD {Epilepsy, juvenile myoclonic, susceptibility to} 607681: AD {Epilepsy, childhood absence, susceptibility to, 2} Comprehensive Epilepsy and Autism; GABRG2 137164 611277: AD Epilepsy, generalized, with febrile Comprehensive Epilepsy; Focal, Generalized, AD seizures plus, type 3 And Myoclonic Epilepsy 611277: AD Febrile seizures, familial, 8 613065: Leukemia, acute lymphoblastic, Comprehensive Epilepsy and Autism; GNB1 139380 somatic Comprehensive Epilepsy; Focal, Generalized, AD 616973: AD Mental retardation, AD 42 And Myoclonic Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; GOSR2 604027 614018: AR Epilepsy, progressive myoclonic 6 Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 245570: AD Epilepsy, focal, with speech GRIN2A 138253 Comprehensive Epilepsy; Focal, Generalized, AD disorder and with or without mental retardation And Myoclonic Epilepsy 600142: AR CARASIL syndrome Comprehensive Epilepsy and Autism; 616779: AD Cerebral arteriopathy, AD, with HTRA1 602194 Comprehensive Epilepsy; Focal, Generalized, AD, AR subcortical infarcts and leukoencephalopathy, And Myoclonic Epilepsy type 2

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 610149: {Macular degeneration, age-related, 7} 610149: {Macular degeneration, age-related, neovascular type} 610582: AD Diabetes mellitus, transient neonatal, 3 125853: AD {Diabetes mellitus, type 2, susceptibility to} Comprehensive Epilepsy and Autism; 606176: AD Diabetes, permanent neonatal, KCNJ11 600937 Comprehensive Epilepsy; Focal, Generalized, AD, AR with or without neurologic features And Myoclonic Epilepsy 601820: AR Hyperinsulinemic hypoglycemia, familial, 2 616329: AD Maturity-onset diabetes of the young, type 13 Comprehensive Epilepsy and Autism; 609446: AD Generalized epilepsy and KCNMA1 600150 Comprehensive Epilepsy; Focal, Generalized, AD paroxysmal dyskinesia And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; KCNQ3 602232 121201: AD Seizures, benign neonatal, type 2 Comprehensive Epilepsy; Focal, Generalized, AD And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 611726: AR Epilepsy, progressive myoclonic 3, KCTD7 611725 Comprehensive Epilepsy; Focal, Generalized, AR with or without intracellular inclusions And Myoclonic Epilepsy 116860: AD Cavernous malformations of CNS and retina 116860: AD Cerebral cavernous Comprehensive Epilepsy and Autism; KRIT1 604214 malformations-1 Comprehensive Epilepsy; Focal, Generalized, AD 116860: AD Hyperkeratotic cutaneous And Myoclonic Epilepsy capillary-venous malformations associated with cerebral capillary malformations 614019: AR Lissencephaly 4 (with Comprehensive Epilepsy and Autism; NDE1 609449 microcephaly) Comprehensive Epilepsy; Focal, Generalized, AR 605013: AR ?Microhydranencephaly And Myoclonic Epilepsy; Microcephaly Comprehensive Epilepsy and Autism; 252010: AR, XLD, Mitochondrial Mitochondrial NDUFA1 300078 Comprehensive Epilepsy; Focal, Generalized, AR, XLD complex I deficiency And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 254780: AR Epilepsy, progressive myoclonic NHLRC1 608072 Comprehensive Epilepsy; Focal, Generalized, AR 2B (Lafora) And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 617116: AD Epilepsy, familial focal, with NPRL2 607072 Comprehensive Epilepsy; Focal, Generalized, AD variable foci 2 And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 617118: AD Epilepsy, familial focal, with NPRL3 600928 Comprehensive Epilepsy; Focal, Generalized, AD variable foci 3 And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; PDCD10 609118 603285: Cerebral cavernous malformations 3 Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; 612437: AR Epilepsy, progressive myoclonic PRICKLE1 608500 Comprehensive Epilepsy; Focal, Generalized, AR 1B And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; PRICKLE2 608501 None Comprehensive Epilepsy; Focal, Generalized, None And Myoclonic Epilepsy 153480: AD Bannayan-Riley-Ruvalcaba syndrome 158350: AD Cowden syndrome 1 608089: Endometrial carcinoma, somatic 613028: {Glioma susceptibility 2} 158350: AD Lhermitte-Duclos syndrome Comprehensive Epilepsy and Autism; 605309: AD Macrocephaly/autism syndrome Comprehensive Epilepsy; Focal, Generalized, PTEN 601728 155600: Malignant melanoma, somatic And Myoclonic Epilepsy; Comprehensive AD, AR 607174: AD {Meningioma} Autism Spectrum Disorder; STAT Autism PTEN hamartoma tumor syndrome (3) Spectrum Disorder 176807: {Prostate cancer, somatic} 275355: Squamous cell carcinoma, head and neck, somatic 276950: AR VATER association with macrocephaly and ventriculomegaly

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Focal, Generalized, RARS2 611524 611523: AR Pontocerebellar hypoplasia, type 6 AR And Myoclonic Epilepsy; Infantile Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 254900: AR Epilepsy, progressive myoclonic 4, SCARB2 602257 Comprehensive Epilepsy; Focal, Generalized, AR with or without renal failure And Myoclonic Epilepsy 615377: AD Atrial fibrillation, familial, 13 612838: Brugada syndrome 5 612838: Cardiac conduction defect, Comprehensive Epilepsy and Autism; nonspecific SCN1B 600235 Comprehensive Epilepsy; Focal, Generalized, AD, AR 604233: AD Epilepsy, generalized, with febrile And Myoclonic Epilepsy seizures plus, type 1 617350: AR Epileptic encephalopathy, early infantile, 52 617935: AD Epilepsy, familial focal, with Comprehensive Epilepsy and Autism; variable foci 4 SCN3A 182391 Comprehensive Epilepsy; Focal, Generalized, AD 617938: AD Epileptic encephalopathy, early And Myoclonic Epilepsy infantile, 62 607208: AD {Dravet syndrome, modifier of} 613863: AD Epilepsy, generalized, with febrile seizures plus, type 7 133020: AD Erythermalgia, primary Comprehensive Epilepsy and Autism; 613863: AD Febrile seizures, familial, 3B SCN9A 603415 Comprehensive Epilepsy; Focal, Generalized, AD, AR 243000: AR HSAN2D, AR And Myoclonic Epilepsy 243000: AR Insensitivity to pain, congenital 167400: AD Paroxysmal extreme pain disorder, 133020: AD Small fiber neuropathy Comprehensive Epilepsy and Autism; 604218: AD Encephalopathy, familial, with SERPINI1 602445 Comprehensive Epilepsy; Focal, Generalized, AD neuroserpin inclusion bodies And Myoclonic Epilepsy Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Focal, Generalized, SLC6A1 137165 616421: AD Myoclonic-atonic epilepsy AD And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 616330: AD ?Myasthenic syndrome, Comprehensive Epilepsy; Focal, Generalized, SNAP25 600322 AD congenital, 18 And Myoclonic Epilepsy; Syndromic Epilepsy and Intellectual Disability Comprehensive Epilepsy and Autism; TRPM6 607009 602014: AR Hypomagnesemia 1, intestinal Comprehensive Epilepsy; Focal, Generalized, AR And Myoclonic Epilepsy

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive). 2. ALDH7A1: The following ALDH7A1 hg19 coordinates have been excluded from this assay: chr5:125907050-125907056. 3. CACNA1H: The following CACNA1H hg19 coordinates have been excluded from this assay: chr16:1203726-1204047. 4. CACNA2D2: The following CACNA2D2 hg19 coordinates have been excluded from this assay: chr3:50540637-50540865. 5. CHRNA7: The following CHRNA7 hg19 coordinates have been excluded from this assay: chr15:32460129-32460670 and chr15:32446096- 32446198. 6. EPM2A: The following EPM2A hg19 coordinates have been excluded from this assay: chr6:146056322-146056645. 7. GABRD: The following GABRD hg19 coordinates have been excluded from this assay: chr1:1950851-1950941. 8. HTRA1: The following HTRA1 hg19 coordinates have been excluded from this assay: chr10:124221157-124221651. 9. KRIT1: The following KRIT1 hg19 coordinates have been excluded from this assay: chr7:91829915-91829921. 10. SCN1B: The following SCN1B hg19 coordinates have been excluded from this assay: chr19:35521713-35521775. 11. SCN3A: The following SCN3A hg19 coordinates have been excluded from this assay: chr2:165986438-165986817.

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INFANTILE EPILEPSY SUBPANEL

Infantile epilepsy includes Mendelian forms of epilepsy with onset of seizures in the first year of life. Examples of these disorders include early infantile epileptic encephalopathy (EIEE) disorders, West syndrome, Lennox-Gestaut syndrome, a variety of ion channel disorders, neurotransmitter disorders, and neurometabolic disorders. The affected infants normally have tonic, myoclonic, or focal seizures and may show developmental delay, autism, cognitive impairment, and movement disorders.

The Infantile Subpanel includes the following 58 genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; ABAT 137150 613163: AR GABA-transaminase deficiency AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; ADSL 608222 103050: AR Adenylosuccinase deficiency Comprehensive Epilepsy; Infantile Epilepsy; AR Comprehensive Autism Spectrum Disorder 300884: XLD ?Congenital disorder of glycosylation, type Is Comprehensive Epilepsy and Autism; ALG13 300776 XLD 300884: XLD Epileptic encephalopathy, early Comprehensive Epilepsy; Infantile Epilepsy infantile, 36 Comprehensive Epilepsy and Autism; AMT 238310 605899: AR Glycine encephalopathy AR Comprehensive Epilepsy; Infantile Epilepsy 300607: XLR Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; ARHGEF9 300429 XLR infantile, 8 Comprehensive Epilepsy; Infantile Epilepsy 308350: XLR Epileptic encephalopathy, early infantile, 1 300215: XL Hydranencephaly with abnormal Comprehensive Epilepsy and Autism; genitalia Comprehensive Epilepsy; Infantile Epilepsy; ARX 300382 300215: XL Lissencephaly, XL 2 XLR, XL Comprehensive Autism Spectrum Disorder; 300419: XLR Mental retardation, XL 29 and STAT Autism Spectrum Disorder; Microcephaly others 309510: XLR Partington syndrome 300004: XL Proud syndrome Comprehensive Epilepsy and Autism; 300672: XLD Epileptic encephalopathy, early Comprehensive Epilepsy; Infantile Epilepsy; CDKL5 300203 XLD infantile, 2 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; 615369: AD Epileptic encephalopathy, CHD2 602119 Comprehensive Epilepsy; Infantile Epilepsy; AD childhood-onset Comprehensive Autism Spectrum Disorder 616346: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; DNM1 602377 AD infantile, 31 Comprehensive Epilepsy; Infantile Epilepsy 615859: AR Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; DOCK7 615730 AR infantile, 23 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Infantile Epilepsy; DYRK1A 600855 614104: AD Mental retardation, AD 7 AD Syndromic Epilepsy and Intellectual Disability; Comprehensive Autism Spectrum Disorder 616409: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; EEF1A2 602959 infantile, 33 Comprehensive Epilepsy; Infantile Epilepsy; AD 616393: AD Mental retardation, AD 38 Syndromic Epilepsy and Intellectual Disability 611136: {Epilepsy, childhood absence, susceptibility to, 4} 611136: {Epilepsy, juvenile myoclonic, Comprehensive Epilepsy and Autism; GABRA1 137160 AD susceptibility to, 5} Comprehensive Epilepsy; Infantile Epilepsy 615744: AD Epileptic encephalopathy, early infantile, 19 617829: AD Epileptic encephalopathy, infantile Comprehensive Epilepsy and Autism; GABRB2 600232 AD or early childhood, 2 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; GCSH 238330 605899: AR Glycine encephalopathy AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; GLDC 238300 605899: AR Glycine encephalopathy AR Comprehensive Epilepsy; Infantile Epilepsy 615473: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; GNAO1 139311 AD infantile, 17 Comprehensive Epilepsy; Infantile Epilepsy

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 617493: AD Neurodevelopmental disorder with involuntary movements 613065: Leukemia, acute lymphoblastic, Comprehensive Epilepsy and Autism; GNB1 139380 somatic Comprehensive Epilepsy; Focal, Generalized, AD 616973: AD Mental retardation, AD 42 And Myoclonic Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; GPHN 603930 615501: AR Molybdenum cofactor deficiency C AR Comprehensive Epilepsy; Infantile Epilepsy 616139: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; GRIN2B 138252 infantile, 27 Comprehensive Epilepsy; Infantile Epilepsy; AD 613970: Mental retardation, AD 6 Comprehensive Autism Spectrum Disorder 615871: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; HCN1 602780 AD infantile, 24 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; HIP1 601767 176807: AD {Prostate cancer, progression of} AD Comprehensive Epilepsy; Infantile Epilepsy 616647: AR Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; ITPA 147520 infantile, 35 AR Comprehensive Epilepsy; Infantile Epilepsy 613850: [Inosine triphosphatase deficiency] Comprehensive Epilepsy and Autism; 616366: AD Epileptic encephalopathy, early KCNA2 176262 Comprehensive Epilepsy; Infantile Epilepsy; AD infantile, 32 Syndromic Epilepsy and Intellectual Disability 616056: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; KCNB1 600397 AD infantile, 26 Comprehensive Epilepsy; Infantile Epilepsy 613720: AD Epileptic encephalopathy, early infantile, 7 Comprehensive Epilepsy and Autism; KCNQ2 602235 AD 121200: AD Myokymia Comprehensive Epilepsy; Infantile Epilepsy 121200: AD Seizures, benign neonatal, 1 615005: AD Epilepsy, nocturnal frontal lobe, 5 Comprehensive Epilepsy and Autism; KCNT1 608167 614959: AD Epileptic encephalopathy, early AD Comprehensive Epilepsy; Infantile Epilepsy infantile, 14 614462: AR Hyperglycinemia, lactic acidosis, Comprehensive Epilepsy and Autism; LIAS 607031 AR and seizures Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; MAGI2 606382 617609: AR Nephrotic syndrome 15 AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; MAPK10 602897 Early infantile epilepsy None Comprehensive Epilepsy; Infantile Epilepsy 300496: IC, XL, MF {Autism susceptibility, XL 3} 300673: XLR Encephalopathy, neonatal severe 300260: XLR Mental retardation, XL Comprehensive Epilepsy and Autism; syndromic, Lubs type Comprehensive Epilepsy; Infantile Epilepsy; XLD, XLR, MECP2 300005 300055: XLR Mental retardation, XL, Syndromic Epilepsy and Intellectual Disability; XL, IC, MF syndromic 13 Comprehensive Autism Spectrum Disorder; 312750: XLD Rett syndrome STAT Autism Spectrum Disorder; Microcephaly 312750: XLD Rett syndrome, atypical 312750: XLD Rett syndrome, preserved speech variant 236250: AR Homocystinuria due to MTHFR deficiency 601634: AR {Neural tube defects, susceptibility to} Comprehensive Epilepsy and Autism; MTHFR 607093 AD, AR 181500: AD {Schizophrenia, susceptibility to} Comprehensive Epilepsy; Infantile Epilepsy 188050: AD {Thromboembolism, susceptibility to} {Vascular disease, susceptibility to} (3) 615833: AR ?Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; NECAP1 611623 AR infantile, 21 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; 300088: XL Epileptic encephalopathy, early Comprehensive Epilepsy; Infantile Epilepsy; PCDH19 300460 XL infantile, 9 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder 300868: XLR Multiple congenital anomalies- hypotonia-seizures syndrome 2 Comprehensive Epilepsy and Autism; PIGA 311770 XLR 300818: Paroxysmal nocturnal hemoglobinuria, Comprehensive Epilepsy; Infantile Epilepsy somatic 614749: AR Hyperphosphatasia with mental Comprehensive Epilepsy and Autism; PIGO 614730 AR retardation syndrome 2 Comprehensive Epilepsy; Infantile Epilepsy

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 613722: AR Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; PLCB1 607120 AR infantile, 12 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; 616267: AR Ataxia-oculomotor apraxia 4 Comprehensive Epilepsy; Infantile Epilepsy; PNKP 605610 613402: AR Microcephaly, seizures, and AR Comprehensive Autism Spectrum Disorder; developmental delay Microcephaly 610090: AR Pyridoxamine 5'-phosphate Comprehensive Epilepsy and Autism; PNPO 603287 AR oxidase deficiency Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Focal, Generalized, RARS2 611524 611523: AR Pontocerebellar hypoplasia, type 6 AR And Myoclonic Epilepsy; Infantile Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; RNASEH2A 606034 610333: AR Aicardi-Goutieres syndrome 4 AR Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; ROGDI 614574 226750: AR Kohlschutter-Tonz syndrome Comprehensive Epilepsy; Infantile Epilepsy; AR Syndromic Epilepsy and Intellectual Disability 613721: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; infantile, 11 SCN2A 182390 Comprehensive Epilepsy; Infantile Epilepsy; AD 607745: AD Seizures, benign familial infantile, Comprehensive Autism Spectrum Disorder 3 614306: AD ?Cognitive impairment with or without cerebellar ataxia 614558: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; SCN8A 600702 AD infantile, 13 Comprehensive Epilepsy; Infantile Epilepsy 617080: AD Seizures, benign familial infantile, 5 616341: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; SIK1 605705 AD infantile, 30 Comprehensive Epilepsy; Infantile Epilepsy 616685: AD {Epilepsy, idiopathic generalized, Comprehensive Epilepsy and Autism; susceptibility to, 14} SLC12A5 606726 Comprehensive Epilepsy; Infantile Epilepsy; AD, AR 616645: AR Epileptic encephalopathy, early Syndromic Epilepsy and Intellectual Disability infantile, 34 615905: AR Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; SLC13A5 608305 AR infantile, 25 Comprehensive Epilepsy; Infantile Epilepsy 617105: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; SLC1A2 600300 AD infantile, 41 Comprehensive Epilepsy; Infantile Epilepsy 609304: AR Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; SLC25A22 609302 AR infantile, 3 Comprehensive Epilepsy; Infantile Epilepsy 300896: XLD, Somatic mosaicism Congenital Comprehensive Epilepsy and Autism; SLC35A2 314375 XLD disorder of glycosylation, type IIm Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Infantile Epilepsy; 300352: XLR Cerebral creatine deficiency SLC6A8 300036 Syndromic Epilepsy and Intellectual Disability; XLR syndrome 1 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder 613477: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; SPTAN1 182810 AD infantile, 5 Comprehensive Epilepsy; Infantile Epilepsy 615006: AR ?Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; ST3GAL3 606494 infantile, 15 AR Comprehensive Epilepsy; Infantile Epilepsy 611090: AR Mental retardation, AR 12 616172: AD Generalized epilepsy with febrile Comprehensive Epilepsy and Autism; STX1B 601485 AD seizures plus, type 9 Comprehensive Epilepsy; Infantile Epilepsy Comprehensive Epilepsy and Autism; 612164: AD Epileptic encephalopathy, early STXBP1 602926 Comprehensive Epilepsy; Infantile Epilepsy; AD infantile, 4 Comprehensive Autism Spectrum Disorder 615476: AR Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; SZT2 615463 AR infantile, 18 Comprehensive Epilepsy; Infantile Epilepsy 220500: AR DOOR syndrome 614617: AR Deafness , AR 86 616044: AD Deafness, AD 65 Comprehensive Epilepsy and Autism; TBC1D24 613577 615338: AR Epileptic encephalopathy, early AD, AR Comprehensive Epilepsy; Infantile Epilepsy infantile, 16 605021: AR Myoclonic epilepsy, infantile, familial 616211: AR Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; WWOX 605131 AR infantile, 28 Comprehensive Epilepsy; Infantile Epilepsy

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 133239: Esophageal squamous cell carcinoma, somatic 614322: AR Spinocrebellar ataxia, AR 12

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive). 2. ARX: The following ARX hg19 coordinates have been excluded from this assay: chrX:25031027-25031926. 3. MAGI2: The following MAGI2 hg19 coordinates have been excluded from this assay: chr7:77648620-77649304.

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MIGRAINE SUBPANEL

Both migraines and epilepsy are characterized by episodes of neurologic dysfunction, accompanied by headache, gastrointestinal, autonomic, and psychological manifestations. They can precede or succeed each other or occur simultaneously. The clinical presentation may overlap and be difficult for diagnosis. EEG monitoring may be useful to measure predisposition for epilepsy. Migraines are common in people with epilepsy.

The Migraine Subpanel includes the following seven genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 104290: AD Alternating hemiplegia of childhood Comprehensive Epilepsy and Autism; ATP1A2 182340 AD 602481: AD Migraine, familial basilar Comprehensive Epilepsy; Migraine 602481: AD Migraine, familial hemiplegic, 2 617106: AD Epileptic encephalopathy, early infantile, 42 108500: AD Episodic ataxia, type 2 Comprehensive Epilepsy and Autism; CACNA1A 601011 141500: AD Migraine, familial hemiplegic, 1 AD Comprehensive Epilepsy; Migraine 141500: AD Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 183086: AD Spinocerebellar ataxia 6 125310: AD Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 Comprehensive Epilepsy and Autism; NOTCH3 600276 AD 130720: AD Lateral meningocele syndrome Comprehensive Epilepsy; Migraine 615293: AD ?Myofibromatosis, infantile 2 203700: AR Mitochondrial DNA depletion syndrome 4A (Alpers type) 613662: AR Mitochondrial DNA depletion syndrome 4B (MNGIE type) Comprehensive Epilepsy And Autism; 607459: AR Mitochondrial recessive ataxia POLG 174763 Comprehensive Epilepsy; Migraine; Syndromic AD, AR syndrome (includes SANDO and SCAE) Epilepsy And Intellectual Disability 157640: AD Progressive external ophthalmoplegia, AD 1 258450: AR Progressive external ophthalmoplegia, AR 1 602066: AD Convulsions, familial infantile, with paroxysmal choreoathetosis Comprehensive Epilepsy and Autism; PRRT2 614386 128200: AD Episodic kinesigenic dyskinesia 1 AD Comprehensive Epilepsy; Migraine 605751: AD Seizures, benign familial infantile, 2 604403: AD Epilepsy, generalized, with febrile seizures plus, type 2 Comprehensive Epilepsy and Autism; 607208: AD Epileptic encephalopathy, early Comprehensive Epilepsy; Migraine; Syndromic SCN1A 182389 AD infantile, 6 (Dravet syndrome) Epilepsy and Intellectual Disability; 604403: AD Febrile seizures, familial, 3A Comprehensive Autism Spectrum Disorder 609634: AD Migraine, familial hemiplegic, 3 601042: AD Dystonia 9 614847: AD {Epilepsy, idiopathic generalized, susceptibility to, 12} 606777: AR, AD GLUT1 deficiency syndrome Comprehensive Epilepsy and Autism; SLC2A1 138140 1, infantile onset, severe Comprehensive Epilepsy; Migraine; Syndromic AD, AR 612126: AD GLUT1 deficiency syndrome 2, Epilepsy and Intellectual Disability childhood onset 608885: AD Stomatin-deficient cryohydrocytosis with neurologic defects

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive). 2. NOTCH3: The following NOTCH3 hg19 coordinates have been excluded from this assay: chr19:15311587-15311727.

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NEURONAL CEROID LIPOFUSCINOSES SUBPANEL

Neuronal ceroid lipofuscinoses (NCL) are a group of lysosomal storage disorders (LSD) characterized by epilepsy, dementia, motor function impairment, vision loss and ataxia. They result from excessive accumulation of the storage material lipofuscin in lysosomes and have a variable age of onset from infantile to adulthood. The most prevalent NCLs are classic juvenile CLN3 disease and classic late infantile CLN2 disease.

The Neuronal Ceroid Lipofuscinoses Subpanel includes the following nine genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; CLN3 607042 204200: AR Ceroid lipofuscinosis, neuronal, 3 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses Comprehensive Epilepsy and Autism; CLN5 608102 256731: AR Ceroid lipofuscinosis, neuronal, 5 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses 601780: AR Ceroid lipofuscinosis, neuronal, 6 Comprehensive Epilepsy and Autism; CLN6 606725 204300: AR Ceroid lipofuscinosis, neuronal, Comprehensive Epilepsy; Neuronal Ceroid AR Kufs type, adult onset Lipofuscinoses 600143: AR Ceroid lipofuscinosis, neuronal, 8 Comprehensive Epilepsy and Autism; CLN8 607837 610003: AR Ceroid lipofuscinosis, neuronal, 8, Comprehensive Epilepsy; Neuronal Ceroid AR Northern epilepsy variant Lipofuscinoses Comprehensive Epilepsy and Autism; 610127: AR Ceroid lipofuscinosis, neuronal, CTSD 116840 Comprehensive Epilepsy; Neuronal Ceroid AR 10 Lipofuscinoses Comprehensive Epilepsy and Autism; 162350: AD Ceroid lipofuscinosis, neuronal, 4, DNAJC5 611203 Comprehensive Epilepsy; Neuronal Ceroid AD Parry type Lipofuscinoses 610951: AR Ceroid lipofuscinosis, neuronal, 7 Comprehensive Epilepsy and Autism; MFSD8 611124 616170: AR Macular dystrophy with central Comprehensive Epilepsy; Neuronal Ceroid AR cone involvement Lipofuscinoses Comprehensive Epilepsy and Autism; PPT1 600722 256730: AR Ceroid lipofuscinosis, neuronal, 1 Comprehensive Epilepsy; Neuronal Ceroid AR Lipofuscinoses Comprehensive Epilepsy and Autism; 204500: AR Ceroid lipofuscinosis, neuronal, 2 TPP1 607998 Comprehensive Epilepsy; Neuronal Ceroid AR 609270: AR Spinocerebellar ataxia, AR 7 Lipofuscinoses

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive).

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NEURONAL MIGRATION SUBPANEL

Neuronal migration disorder occurs when there is a disruption in the migration of neuroblasts during neurogenesis. The affected areas of the brain do not have the appropriate neural connections and do not function properly. The signs and symptoms of a neuronal migration disorder vary depending on the area of the brain affected. Symptoms are variable and normally include seizures, developmental delay, mental retardation, microcephaly and hypotonia. The most common seizures include tonic-clonic and absence seizures.

The Neuronal Migration Subpanel includes the following 22 genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 606854: AR Polymicrogyria, bilateral Comprehensive Epilepsy and Autism; ADGRG1 604110 frontoparietal Comprehensive Epilepsy; Neuronal Migration; AR 615752: Polymicrogyria, bilateral perisylvian Microcephaly Comprehensive Epilepsy and Autism; COL18A1 120328 267750: AR Knobloch syndrome, type 1 AR Comprehensive Epilepsy; Neuronal Migration 611773: AD Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 607595: AD Brain small vessel disease with or without ocular anomalies Comprehensive Epilepsy and Autism; COL4A1 120130 AD 614519: {Hemorrhage, intracerebral, Comprehensive Epilepsy; Neuronal Migration susceptibility to} 175780: AD Porencephaly 1 180000: AD ?Retinal arteries, tortuosity of Comprehensive Epilepsy and Autism; EMX2 600035 269160: Schizencephaly None Comprehensive Epilepsy; Neuronal Migration 100800: AD Achondroplasia 109800: Bladder cancer, somatic 610474: AR, AD CATSHL syndrome 603956: Cervical cancer, somatic 114500: Colorectal cancer, somatic 612247: AD Crouzon syndrome with acanthosis nigricans Comprehensive Epilepsy and Autism; FGFR3 134934 146000: AD Hypochondroplasia AD, AR Comprehensive Epilepsy; Neuronal Migration 149730: AD LADD syndrome 602849: AD Muenke syndrome 162900: Nevus, epidermal, somatic 616482: AD SADDAN 273300: Spermatocytic seminoma, somatic 187600: AD Thanatophoric dysplasia, type I 187601: AD Thanatophoric dysplasia, type II 613153: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Comprehensive Epilepsy and Autism; 606612: AR Muscular dystrophy- FKRP 606596 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with or without Microcephaly mental retardation), type B, 5 607155: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 5 314400: XLR Cardiac valvular dysplasia, XL 300048: XLR Congenital short bowel syndrome 300321: FG syndrome 2 305620: XLR Frontometaphyseal dysplasia 1 300049: XLD Heterotopia, periventricular 300048: XLR Intestinal pseudoobstruction, Comprehensive Epilepsy and Autism; FLNA 300017 XLD, XLR, XL neuronal Comprehensive Epilepsy; Neuronal Migration 309350: XLD Melnick-Needles syndrome 311300: XLD Otopalatodigital syndrome, type I 304120: XLD Otopalatodigital syndrome, type II 300244: Terminal osseous dysplasia 613154: AR Muscular dystrophy- Comprehensive Epilepsy and Autism; LARGE1 603590 dystroglycanopathy (congenital with brain and Comprehensive Epilepsy; Neuronal Migration; AR eye anomalies), type A, 6 Microcephaly

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 608840: AR Muscular dystrophy- dystroglycanopathy (congenital with mental retardation), type B, 6 Comprehensive Epilepsy and Autism; 607432: IC Lissencephaly 1 Comprehensive Epilepsy; Neuronal Migration; PAFAH1B1 601545 IC 607432: IC Subcortical laminar heterotopia Comprehensive Autism Spectrum Disorder; Microcephaly 106210: AD Aniridia 604229: Anterior segment dysgenesis 5, multiple subtypes 106210: AD Cataract with late-onset corneal dystrophy Comprehensive Epilepsy and Autism; PAX6 607108 120430: AD ?Coloboma of optic nerve AD Comprehensive Epilepsy; Neuronal Migration 120200: AD ?Coloboma, ocular 136520: AD Foveal hypoplasia 1 148190: AD Keratitis 120430: AD ?Morning glory disc anomaly 165550: AD Optic nerve hypoplasia 253280: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 613151: AR Muscular dystrophy- Comprehensive Epilepsy and Autism; POMGNT1 606822 dystroglycanopathy (congenital with mental Comprehensive Epilepsy; Neuronal Migration; AR retardation), type B, 3 Microcephaly 613157: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 3 617123: AR Retinitis pigmentosa 76 236670: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Comprehensive Epilepsy and Autism; 613155: AR Muscular dystrophy- POMT1 607423 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with mental Microcephaly retardation), type B, 1 609308: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 1 613150: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Comprehensive Epilepsy and Autism; 613156: AR Muscular dystrophy- POMT2 607439 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with mental Microcephaly retardation), type B, 2 613158: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 2 Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Neuronal Migration; PQBP1 300463 309500: XLR Renpenning syndrome XLR Syndromic Epilepsy and Intellectual Disability; Comprehensive Autism Spectrum Disorder 616436: AD {Epilepsy, familial temporal lobe, Comprehensive Epilepsy and Autism; 7} RELN 600514 Comprehensive Epilepsy; Neuronal Migration; AD, AR 257320: AR Lissencephaly 2 (Norman- Microcephaly Roberts type) Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Neuronal Migration; TUBA1A 602529 611603: AD Lissencephaly 3 AD Comprehensive Autism Spectrum Disorder; Microcephaly 613180: AR Cortical dysplasia, complex, with Comprehensive Epilepsy and Autism; TUBA8 605742 AR other brain malformations 8 Comprehensive Epilepsy; Neuronal Migration 615771: AD Cortical dysplasia, complex, with other brain malformations 6 Comprehensive Epilepsy and Autism; TUBB 191130 AD 156610: AD Symmetric circumferential skin Comprehensive Epilepsy; Neuronal Migration creases, congenital, 1 615763: AD Cortical dysplasia, complex, with Comprehensive Epilepsy and Autism; TUBB2A 615101 AD other brain malformations 5 Comprehensive Epilepsy; Neuronal Migration 610031: AD Cortical dysplasia, complex, with Comprehensive Epilepsy and Autism; TUBB2B 612850 AD other brain malformations 7 Comprehensive Epilepsy; Neuronal Migration 614039: AD Cortical dysplasia, complex, with Comprehensive Epilepsy and Autism; TUBB3 602661 AD other brain malformations 1 Comprehensive Epilepsy; Neuronal Migration

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 600638: AD Fibrosis of extraocular muscles, congenital, 3A Comprehensive Epilepsy and Autism; 615412: AD Cortical dysplasia, complex, with TUBG1 191135 Comprehensive Epilepsy; Neuronal Migration; AD other brain malformations 4 Microcephaly

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive). 2. COL18A1: The following COL18A1 hg19 coordinates have been excluded from this assay: chr21:46825134-46825167, and chr21:46825282- 46825399. 3. TUBB2A: The following TUBB2A hg19 coordinates have been excluded from this assay: chr6:3154085-3155190, and chr6:3156266-3156397. 4. TUBB2B: The following TUBB2B hg19 coordinates have been excluded from this assay: chr6:3224973-3226056.

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SYNDROMIC EPILEPSY AND INTELLECTUAL DISABILITY SUBPANEL

The International League Against Epilepsy (ILAE) defines epilepsy syndromes clinically by a group of often co-occurring symptoms. These syndromes have variable and complex phenotypes that include epilepsy and are defined on the basis of seizure type, location, age of onset, EEG features, symptoms, and cause. Identifying the underlying etiology of an epilepsy syndrome guides treatment. Intellectual disability is often found as a feature of syndromic epilepsy. The Syndromic Epilepsy and Intellectual Disability Panel includes epileptic syndromes and epilepsies with intellectual disability.

The Syndromic Epilepsy and / or Intellectual Disability Subpanel includes the following 93 genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 304340: XLR Mental retardation, XL syndromic AP1S2 300629 and Intellectual Disability; Comprehensive XLR, XL 5 Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 608097: AR Periventricular heterotopia with ARFGEF2 605371 Comprehensive Epilepsy; Syndromic Epilepsy AR microcephaly and Intellectual Disability; Microcephaly Comprehensive Epilepsy and Autism; ASPM 605481 608716: AR Microcephaly 5, primary, AR Comprehensive Epilepsy; Syndromic Epilepsy AR and Intellectual Disability; Microcephaly Comprehensive Epilepsy and Autism; 101900: AD Acrokeratosis verruciformis ATP2A2 108740 Comprehensive Epilepsy; Syndromic Epilepsy AD 124200: AD Darier disease and Intellectual Disability 300423: XLR Mental retardation, XL, Comprehensive Epilepsy and Autism; ATP6AP2 300556 syndromic, Hedera type Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL 300911: XLR ?Parkinsonism with spasticity, XL and Intellectual Disability Comprehensive Epilepsy and Autism; 219200: AR Cutis laxa, AR, type IIA ATP6V0A2 611716 Comprehensive Epilepsy; Syndromic Epilepsy AR 278250: AR Wrinkly skin syndrome and Intellectual Disability 614564: AD ?Cutaneous telangiectasia and Comprehensive Epilepsy and Autism; ATR 601215 cancer syndrome, familial Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 210600: AR Seckel syndrome 1 and Intellectual Disability; Microcephaly 300448: Alpha-thalassemia myelodysplasia syndrome, somatic Comprehensive Epilepsy and Autism; 301040: XLD Alpha-thalassemia/mental Comprehensive Epilepsy; Syndromic Epilepsy XLD, XLR, ATRX 300032 retardation syndrome and Intellectual Disability; Comprehensive XL 309580: XLR Mental retardation-hypotonic Autism Spectrum Disorder facies syndrome, XL 300422: FG syndrome 4 300749: XLD Mental retardation and Comprehensive Epilepsy and Autism; microcephaly with pontine and cerebellar Comprehensive Epilepsy; Syndromic Epilepsy CASK 300172 XLD hypoplasia and Intellectual Disability; Comprehensive 300422: Mental retardation, with or without Autism Spectrum Disorder; Microcephaly nystagmus Comprehensive Epilepsy and Autism; 236600: AR Hydrocephalus, nonsyndromic, AR CCDC88C 611204 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 616053: AD ?Spinocerebellar ataxia 40 and Intellectual Disability Comprehensive Epilepsy and Autism; 612100: {Autism susceptibility 15} Comprehensive Epilepsy; Focal, Generalized, 610042: Cortical dysplasia-focal epilepsy And Myoclonic Epilepsy; Syndromic Epilepsy CNTNAP2 604569 None syndrome and Intellectual Disability; Comprehensive 610042: Pitt-Hopkins like syndrome 1 Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy CREBBP 600140 180849: AD Rubinstein-Taybi syndrome 1 AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; 300354: XLR Mental retardation, XL, CUL4B 300304 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL syndromic 15 (Cabezas type) and Intellectual Disability Comprehensive Epilepsy and Autism; 300067: XL Lissencephaly, XL DCX 300121 Comprehensive Epilepsy; Syndromic Epilepsy XL 300067: XL Subcortical laminal heteropia, XL and Intellectual Disability; Microcephaly

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Infantile Epilepsy; DYRK1A 600855 614104: AD Mental retardation, AD 7 AD Syndromic Epilepsy and Intellectual Disability; Comprehensive Autism Spectrum Disorder 616409: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; EEF1A2 602959 infantile, 33 Comprehensive Epilepsy; Infantile Epilepsy; AD 616393: AD Mental retardation, AD 38 Syndromic Epilepsy and Intellectual Disability Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy EHMT1 607001 610253: AD Kleefstra syndrome AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 305400: XLR Aarskog-Scott syndrome Comprehensive Epilepsy; Syndromic Epilepsy FGD1 300546 305400: XLR Mental retardation, XL syndromic XLR, XL and Intellectual Disability; Comprehensive 16 Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 225790: AR Proliferative vasculopathy and FLVCR2 610865 Comprehensive Epilepsy; Syndromic Epilepsy AR hydraencephaly-hydrocephaly syndrome and Intellectual Disability Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy FOXG1 164874 613454: AD Rett syndrome, congenital variant AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; 612736: AR Cerebral creatine deficiency GAMT 601240 Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome 2 and Intellectual Disability Comprehensive Epilepsy and Autism; 612718: AR Cerebral creatine deficiency GATM 602360 Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome 3 and Intellectual Disability Comprehensive Epilepsy and Autism; 615849: AD Culler-Jones syndrome GLI2 165230 Comprehensive Epilepsy; Syndromic Epilepsy AD 610829: AD Holoprosencephaly 9 and Intellectual Disability; Microcephaly Comprehensive Epilepsy and Autism; 312870: XLR Simpson-Golabi-Behmel Comprehensive Epilepsy; Syndromic Epilepsy GPC3 300037 syndrome, type 1 and Intellectual Disability; Comprehensive XLR 194070: Wilms tumor, somatic Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy GRIA3 305915 300699: XLR Mental retardation, XL 94 and Intellectual Disability; Comprehensive XLR, XL Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; GRIN1 138249 614254: Mental retardation, AD 8 Comprehensive Epilepsy; Syndromic Epilepsy AD and Intellectual Disability Comprehensive Epilepsy and Autism; 613123: Brugada syndrome 8 HCN4 605206 Comprehensive Epilepsy; Syndromic Epilepsy AD 163800: AD Sick sinus syndrome 2 and Intellectual Disability Comprehensive Epilepsy and Autism; 617391: AD Epileptic encephalopathy, early HNRNPU 602869 Comprehensive Epilepsy; Syndromic Epilepsy AD infantile, 54 and Intellectual Disability Comprehensive Epilepsy and Autism; HSD17B10 300256 300438: XLD HSD10 mitochondrial disease Comprehensive Epilepsy; Syndromic Epilepsy XLD and Intellectual Disability Comprehensive Epilepsy and Autism; IQSEC2 300522 309530: XLD Mental retardation, XL 1/78 Comprehensive Epilepsy; Syndromic Epilepsy XLD, XL and Intellectual Disability Comprehensive Epilepsy and Autism; KANSL1 612452 610443: AD Koolen-De Vries syndrome Comprehensive Epilepsy; Syndromic Epilepsy AD and Intellectual Disability Comprehensive Epilepsy and Autism; 160120: AD Episodic ataxia/myokymia KCNA1 176260 Comprehensive Epilepsy; Syndromic Epilepsy AD syndrome and Intellectual Disability Comprehensive Epilepsy and Autism; 616366: AD Epileptic encephalopathy, early KCNA2 176262 Comprehensive Epilepsy; Infantile Epilepsy; AD infantile, 32 Syndromic Epilepsy and Intellectual Disability

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; KCNJ1 600359 241200: AR Bartter syndrome, type 2 Comprehensive Epilepsy; Syndromic Epilepsy AR and Intellectual Disability 600791: AR Enlarged vestibular aqueduct, Comprehensive Epilepsy and Autism; KCNJ10 602208 digenic Comprehensive Epilepsy; Syndromic Epilepsy AR 612780: AR SESAME syndrome and Intellectual Disability Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300534: XLR Mental retardation, XL, KDM5C 314690 and Intellectual Disability; Comprehensive XLR, XL syndromic, Claes-Jensen type Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 609460: AR Goldberg-Shprintzen megacolon KIF1BP 609367 Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome and Intellectual Disability Comprehensive Epilepsy and Autism; KMT2D 602113 147920: AD Kabuki syndrome 1 Comprehensive Epilepsy; Syndromic Epilepsy AD and Intellectual Disability 215140: AR Greenberg skeletal dysplasia Comprehensive Epilepsy and Autism; LBR 600024 169400: AD Pelger-Huet anomaly Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 613471: AD ?Reynolds syndrome and Intellectual Disability Comprehensive Epilepsy and Autism; LGI1 604619 600512: AD Epilepsy, familial temporal lobe, 1 Comprehensive Epilepsy; Syndromic Epilepsy AD and Intellectual Disability Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy MBD5 611472 156200: AD Mental retardation, AD 1 AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; MCPH1 607117 251200: AR Microcephaly 1, primary, AR Comprehensive Epilepsy; Syndromic Epilepsy AR and Intellectual Disability; Microcephaly 300496: IC, XL, MF {Autism susceptibility, XL 3} 300673: XLR Encephalopathy, neonatal severe Comprehensive Epilepsy and Autism; 300260: XLR Mental retardation, XL Comprehensive Epilepsy; Infantile Epilepsy; syndromic, Lubs type Syndromic Epilepsy and Intellectual Disability; XLD, XLR, MECP2 300005 300055: XLR Mental retardation, XL, Comprehensive Autism Spectrum Disorder; XL, IC, MF syndromic 13 STAT Autism Spectrum Disorder; 312750: XLD Rett syndrome Microcephaly 312750: XLD Rett syndrome, atypical 312750: XLD Rett syndrome, preserved speech variant 613443: AD Chromosome 5q14.3 deletion Comprehensive Epilepsy and Autism; syndrome Comprehensive Epilepsy; Syndromic Epilepsy MEF2C 600662 613443: AD Mental retardation, stereotypic AD and Intellectual Disability; Comprehensive movements, epilepsy, and/or cerebral Autism Spectrum Disorder malformations 607341: Focal cortical dysplasia, type II, Comprehensive Epilepsy and Autism; MTOR 601231 somatic Comprehensive Epilepsy; Syndromic Epilepsy AD 616638: AD Smith-Kingsmore syndrome and Intellectual Disability Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy NIPBL 608667 122470: AD Cornelia de Lange syndrome 1 AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 614325: AR Pitt-Hopkins-like syndrome 2 NRXN1 600565 and Intellectual Disability; Comprehensive AR 614332: {Schizophrenia, susceptibility to, 17} Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 300486: XLR Mental retardation, XL, with Comprehensive Epilepsy; Syndromic Epilepsy OPHN1 300127 cerebellar hypoplasia and distinctive facial and Intellectual Disability; Comprehensive XLR, XL appearance Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; PAK3 300142 300558: XLR Mental retardation, XL 30/47 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL and Intellectual Disability

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 607236: AR HARP syndrome Comprehensive Epilepsy and Autism; PANK2 606157 234200: AR Neurodegeneration with brain iron Comprehensive Epilepsy; Syndromic Epilepsy AR accumulation 1 and Intellectual Disability Comprehensive Epilepsy and Autism; 301900: XLR Borjeson-Forssman-Lehmann Comprehensive Epilepsy; Syndromic Epilepsy PHF6 300414 XLR syndrome and Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 239300: AR Hyperphosphatasia with mental PIGV 610274 Comprehensive Epilepsy; Syndromic Epilepsy AR retardation syndrome 1 and Intellectual Disability 256600: AR Infantile neuroaxonal dystrophy 1 Comprehensive Epilepsy and Autism; 610217: AR Neurodegeneration with brain iron PLA2G6 603604 Comprehensive Epilepsy; Syndromic Epilepsy AR accumulation 2B and Intellectual Disability 612953: AR Parkinson disease 14, AR Comprehensive Epilepsy and Autism; 312080: XLR Pelizaeus-Merzbacher disease PLP1 300401 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL 312920: XLR Spastic paraplegia 2, XL and Intellectual Disability 203700: AR Mitochondrial DNA depletion syndrome 4A (Alpers type) 613662: AR Mitochondrial DNA depletion syndrome 4B (MNGIE type) Comprehensive Epilepsy And Autism; 607459: AR Mitochondrial recessive ataxia POLG 174763 Comprehensive Epilepsy; Migraine; Syndromic AD, AR syndrome (includes SANDO and SCAE) Epilepsy And Intellectual Disability 157640: AD Progressive external ophthalmoplegia, AD 1 258450: AR Progressive external ophthalmoplegia, AR 1 Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Neuronal Migration; PQBP1 300463 309500: XLR Renpenning syndrome XLR Syndromic Epilepsy and Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300271: XLR Mental retardation, XL 72 RAB39B 300774 and Intellectual Disability; Comprehensive XLR, XL 311510: XLR ?Waisman syndrome Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy RAI1 607642 182290: AD, IC Smith-Magenis syndrome AD, IC and Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; RNASEH2B 610326 610181: AR Aicardi-Goutieres syndrome 2 Comprehensive Epilepsy; Syndromic Epilepsy AR and Intellectual Disability Comprehensive Epilepsy and Autism; RNASEH2C 610330 610329: AR Aicardi-Goutieres syndrome 3 Comprehensive Epilepsy; Syndromic Epilepsy AR and Intellectual Disability Comprehensive Epilepsy and Autism; ROGDI 614574 226750: AR Kohlschutter-Tonz syndrome Comprehensive Epilepsy; Infantile Epilepsy; AR Syndromic Epilepsy and Intellectual Disability Comprehensive Epilepsy and Autism; 612952: AR Aicardi-Goutieres syndrome 5 SAMHD1 606754 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 614415: AD ?Chilblain lupus 2 and Intellectual Disability 604403: AD Epilepsy, generalized, with febrile seizures plus, type 2 Comprehensive Epilepsy and Autism; 607208: AD Epileptic encephalopathy, early Comprehensive Epilepsy; Migraine; Syndromic SCN1A 182389 AD infantile, 6 (Dravet syndrome) Epilepsy and Intellectual Disability; 604403: AD Febrile seizures, familial, 3A Comprehensive Autism Spectrum Disorder 609634: AD Migraine, familial hemiplegic, 3 614022: AD Atrial fibrillation, familial, 10 601144: AD Brugada syndrome 1 601154: AD Cardiomyopathy, dilated, 1E 113900: AD Heart block, nonprogressive Comprehensive Epilepsy and Autism; 113900: AD Heart block, progressive, type IA SCN5A 600163 Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 603830: AD Long QT syndrome-3 and Intellectual Disability 608567: AR Sick sinus syndrome 1 272120: AR {Sudden infant death syndrome, susceptibility to} 603829: Ventricular fibrillation, familial, 1

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; 616078: AD Mental retardation, AD 29 Comprehensive Epilepsy; Syndromic Epilepsy SETBP1 611060 269150: AD Schinzel-Giedion midface AD and Intellectual Disability; Comprehensive retraction syndrome Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 606232: AD Phelan-McDermid syndrome SHANK3 606230 and Intellectual Disability; Comprehensive AD 613950: {Schizophrenia 15} Autism Spectrum Disorder; STAT Autism Spectrum Disorder 616685: AD {Epilepsy, idiopathic generalized, Comprehensive Epilepsy and Autism; susceptibility to, 14} SLC12A5 606726 Comprehensive Epilepsy; Infantile Epilepsy; AD, AR 616645: AR Epileptic encephalopathy, early Syndromic Epilepsy and Intellectual Disability infantile, 34 607483: AR Thiamine metabolism dysfunction Comprehensive Epilepsy and Autism; SLC19A3 606152 syndrome 2 (biotin- or thiamine-responsive Comprehensive Epilepsy; Syndromic Epilepsy AR encephalopathy type 2) and Intellectual Disability 607196: AR Microcephaly, Amish type Comprehensive Epilepsy and Autism; SLC25A19 606521 613710: AR Thiamine metabolism dysfunction Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome 4 (progressive polyneuropathy type) and Intellectual Disability; Microcephaly 601042: AD Dystonia 9 614847: AD {Epilepsy, idiopathic generalized, susceptibility to, 12} 606777: AR, AD GLUT1 deficiency syndrome Comprehensive Epilepsy and Autism; SLC2A1 138140 1, infantile onset, severe Comprehensive Epilepsy; Migraine; Syndromic AD, AR 612126: AD GLUT1 deficiency syndrome 2, Epilepsy and Intellectual Disability childhood onset 608885: AD Stomatin-deficient cryohydrocytosis with neurologic defects Comprehensive Epilepsy and Autism; SLC4A10 605556 None Comprehensive Epilepsy; Syndromic Epilepsy None and Intellectual Disability Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Infantile Epilepsy; 300352: XLR Cerebral creatine deficiency SLC6A8 300036 Syndromic Epilepsy and Intellectual Disability; XLR syndrome 1 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300243: XLD Mental retardation, XL SLC9A6 300231 and Intellectual Disability; Comprehensive XLD, XL syndromic, Christianson type Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy SMC1A 300040 300590: XLD Cornelia de Lange syndrome 2 XLD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; SMC3 606062 610759: AD Cornelia de Lange syndrome 3 Comprehensive Epilepsy; Syndromic Epilepsy AD and Intellectual Disability; Microcephaly Comprehensive Epilepsy and Autism; 309583: XLR Mental retardation, XL, Snyder- SMS 300105 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL Robinson type and Intellectual Disability Comprehensive Epilepsy and Autism; 616330: AD ?Myasthenic syndrome, Comprehensive Epilepsy; Focal, Generalized, SNAP25 600322 AD congenital, 18 And Myoclonic Epilepsy; Syndromic Epilepsy and Intellectual Disability 609528: AR Cerebral dysgenesis, neuropathy, Comprehensive Epilepsy and Autism; SNAP29 604202 ichthyosis, and palmoplantar keratoderma Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome and Intellectual Disability Comprehensive Epilepsy and Autism; 609056: AR Salt and pepper developmental ST3GAL5 604402 Comprehensive Epilepsy; Syndromic Epilepsy AR regression syndrome and Intellectual Disability Comprehensive Epilepsy and Autism; 300491: XLR, XLD Epilepsy, XL, with variable Comprehensive Epilepsy; Syndromic Epilepsy XLD, XLR, SYN1 313440 learning disabilities and behavior disorders and Intellectual Disability; Comprehensive XL Autism Spectrum Disorder Comprehensive Epilepsy and Autism; SYNGAP1 603384 612621: AD Mental retardation, AD 5 AD Comprehensive Epilepsy; Syndromic Epilepsy

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance and Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; SYP 313475 300802: XLD Mental retardation, XL 96 Comprehensive Epilepsy; Syndromic Epilepsy XLD, XL and Intellectual Disability 217095: Conotruncal anomaly face syndrome Comprehensive Epilepsy and Autism; 188400: AD DiGeorge syndrome TBX1 602054 Comprehensive Epilepsy; Syndromic Epilepsy AD 187500: AD Tetralogy of Fallot and Intellectual Disability 192430: AD Velocardiofacial syndrome Comprehensive Epilepsy and Autism; 613267: AD Corneal dystrophy, Fuchs Comprehensive Epilepsy; Syndromic Epilepsy TCF4 602272 endothelial, 3 AD and Intellectual Disability; Comprehensive 610954: AD Pitt-Hopkins syndrome Autism Spectrum Disorder 225750: AR, AD Aicardi-Goutieres syndrome 1, dominant and recessive 610448: AD Chilblain lupus Comprehensive Epilepsy and Autism; TREX1 606609 152700: AD {Systemic lupus erythematosus, Comprehensive Epilepsy; Syndromic Epilepsy AD, AR susceptibility to} and Intellectual Disability 192315: AD Vasculopathy, retinal, with cerebral leukodystrophy Comprehensive Epilepsy and Autism; 607341: Focal cortical dysplasia, type II, Comprehensive Epilepsy; Syndromic Epilepsy somatic TSC1 605284 and Intellectual Disability; Comprehensive AD 606690: Lymphangioleiomyomatosis Autism Spectrum Disorder; STAT Autism 191100: AD Tuberous sclerosis-1 Spectrum Disorder Comprehensive Epilepsy and Autism; 607341: ?Focal cortical dysplasia, type II, Comprehensive Epilepsy; Syndromic Epilepsy somatic TSC2 191092 and Intellectual Disability; Comprehensive AD 606690: Lymphangioleiomyomatosis, somatic Autism Spectrum Disorder; STAT Autism 613254: AD Tuberous sclerosis-2 Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy UBE3A 601623 105830: IC Angelman syndrome and Intellectual Disability; Comprehensive IC Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly 600145: AD Caudal regression syndrome Comprehensive Epilepsy and Autism; VANGL1 610132 182940: AD {Neural tube defects, susceptibility Comprehensive Epilepsy; Syndromic Epilepsy AD to} and Intellectual Disability Comprehensive Epilepsy and Autism; VPS13A 605978 200150: AR Choreoacanthocytosis Comprehensive Epilepsy; Syndromic Epilepsy AR and Intellectual Disability Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy VPS13B 607817 216550: AR Cohen syndrome AR and Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 604317: AR Microcephaly 2, primary, AR, with WDR62 613583 Comprehensive Epilepsy; Syndromic Epilepsy AR or without cortical malformations and Intellectual Disability; Microcephaly Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy ZEB2 605802 235730: AD Mowat-Wilson syndrome AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive). 2. ATP2A2: The following ATP2A2 hg19 coordinates have been excluded from this assay: chr12:110718408-110718414. 3. ATP6AP2: The following ATP6AP2 hg19 coordinates have been excluded from this assay: chrX:40440306-40440365. 4. ATR: The following ATR hg19 coordinates have been excluded from this assay: chr3:142184699-142184705. 5. EHMT1: The following EHMT1 hg19 coordinates have been excluded from this assay: chr9:140513469-140513512. 6. IQSEC2: The following IQSEC2 hg19 coordinates have been excluded from this assay: chrX:53263389-53264377. 7. SHANK3: Analysis of SHANK3 is limited to copy number variants only. 8. ST3GAL5: The following ST3GAL5 hg19 coordinates have been excluded from this assay: chr2:86115935-86116039. 9. SYNGAP1: The following SYNGAP1 hg19 coordinates have been excluded from this assay: chr6:33388030-33388119. 10. TBX1: The following TBX1 hg19 coordinates have been excluded from this assay: chr22:19748416-19748814. 11. VPS13A: The following VPS13A hg19 coordinates have been excluded from this assay: chr9:79829178-79829419.

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THE COMPREHENSIVE AUTISM SPECTRUM DISORDER PANEL

Autistic disorder or autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person's life (ICD-10 Code F84.0). It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Developmental delays in social interaction and language present before the age of 3 years old. According to data released by the Centers for Disease Control and Prevention (CDC) in 2014, the prevalence of autism in the United States is 1 in 68 children (1 in 42 boys and 1 in 189 girls). In some cases, autism is part of a more complex genetic syndrome with other characteristics, although it can be an isolated clinical. It is estimated that about one third of individuals with ASD also develop epilepsy. The Comprehensive Autism Panel includes 228 genes with the following subpanel: STAT Autism Spectrum Disorder Panel (30 genes).

The STAT ASD Panel includes only the most common clinically recognizable genetic syndromes with ASD. The Comprehensive ASD Panel includes all of the genes in the STAT ASD Panel as well as many other genes recently associated with ASD. The Comprehensive ASD Panel is recommended if a specific underlying syndrome is not suspected. There is evidence that copy number variants (CNVs) have a role in ASD. The Comprehensive ASD Panel, the STAT ASD Panel, and other panels offered by Sema4 include CNV detection by next-generation sequencing (NGS) to increase diagnostic yield. The American College of Medical Genetics (ACMG) recommends that every person with developmental delay, ID, or ASD should receive a chromosomal microarray (CMA) to identify copy number variants (CNVs) that contribute to risk in 10-15% of individuals. Sema4 offers CMA testing as a first-tier test and an ultra-high resolution medical exome array for exon-level CNV detection as an add-on to NGS.

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The Comprehensive Autism Panel includes the following 228 genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 300100: XLR Adrenoleukodystrophy Comprehensive Epilepsy and Autism; ABCD1 300371 XLR 300100: XLR Adrenomyeloneuropathy, adult Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ACSL4 300157 300387: XLD Mental retardation, XL 63 XLD, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ADNP 611386 615873: AD Helsmoortel-van der Aa syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ADSL 608222 103050: AR Adenylosuccinase deficiency Comprehensive Epilepsy; Infantile Epilepsy; AR Comprehensive Autism Spectrum Disorder 309548: XLR Mental retardation, XL, FRAXE Comprehensive Epilepsy and Autism; AFF2 300806 XLR, XL type Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; AGO1 606228 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; AHI1 608894 608629: AR Joubert syndrome 3 Comprehensive Autism Spectrum Disorder; AR STAT Autism Spectrum Disorder 300816: XLR Combined oxidative phosphorylation deficiency 6 Comprehensive Epilepsy and Autism; AIFM1 300169 XLR, XL 310490: XLR Cowchock syndrome Comprehensive Autism Spectrum Disorder 300614: XLR Deafness, XL 5 Comprehensive Epilepsy and Autism; 271980: AR Succinic semialdehyde Comprehensive Epilepsy; Focal, Generalized, ALDH5A1 610045 AR dehydrogenase deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ANK3 600465 615493: AR ?Mental retardation, AR, 37 AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ANKRD11 611192 148050: AD KBG syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 304340: XLR Mental retardation, XL syndromic AP1S2 300629 and Intellectual Disability; Comprehensive XLR, XL 5 Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; AP4B1 607245 614066: AR Spastic paraplegia 47, AR AR Comprehensive Autism Spectrum Disorder 613744: AR Spastic paraplegia 51, AR Comprehensive Epilepsy and Autism; AP4E1 607244 AD, AR 184450: AD Stuttering, familial persistent, 1 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; AP4M1 602296 612936: AR Spastic paraplegia 50, AR AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; AP4S1 607243 614067: AR Spastic paraplegia 52, AR AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ARID1A 603024 614607: AD Coffin-Siris syndrome 2 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ARID1B 614556 135900: AD Coffin-Siris syndrome 1 AD Comprehensive Autism Spectrum Disorder 308350: XLR Epileptic encephalopathy, early infantile, 1 300215: XL Hydranencephaly with abnormal Comprehensive Epilepsy and Autism; genitalia Comprehensive Epilepsy; Infantile Epilepsy; ARX 300382 300215: XL Lissencephaly, XL 2 Comprehensive Autism Spectrum Disorder; XLR, XL 300419: XLR Mental retardation, XL 29 and STAT Autism Spectrum Disorder; others Microcephaly 309510: XLR Partington syndrome 300004: XL Proud syndrome 606693: AR Kufor-Rakeb syndrome Comprehensive Epilepsy and Autism; ATP13A2 610513 AR 617225: AR Spastic paraplegia 78, AR Comprehensive Autism Spectrum Disorder 309400: XLR Menkes disease 304150: XLR Occipital horn syndrome Comprehensive Epilepsy and Autism; ATP7A 300011 XLR, XL 300489: XLR Spinal muscular atrophy, distal, Comprehensive Autism Spectrum Disorder XL 3 615268: AR ?Cerebellar ataxia, mental Comprehensive Epilepsy and Autism; ATP8A2 605870 AR retardation, and dysequilibrium syndrome 4 Comprehensive Autism Spectrum Disorder 300448: Alpha-thalassemia myelodysplasia Comprehensive Epilepsy and Autism; XLD, XLR, ATRX 300032 syndrome, somatic Comprehensive Epilepsy; Syndromic Epilepsy XL 301040: XLD Alpha-thalassemia/mental

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance retardation syndrome and Intellectual Disability; Comprehensive 309580: XLR Mental retardation-hypotonic Autism Spectrum Disorder facies syndrome, XL Comprehensive Epilepsy and Autism; AUTS2 607270 615834: AD Mental retardation, AD 26 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 614923: Branched-chain ketoacid Comprehensive Epilepsy; Focal, Generalized, BCKDK 614901 None dehydrogenase kinase deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; BCL11A 606557 617101: AD Dias-Logan syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; BCOR 300485 300166: XLD Microphthalmia, syndromic 2 XLD Comprehensive Autism Spectrum Disorder 211980: Adenocarcinoma of lung, somatic 115150: AD Cardiofaciocutaneous syndrome Colorectal cancer, somatic (3) Comprehensive Epilepsy and Autism; BRAF 164757 613707: AD LEOPARD syndrome 3 Comprehensive Autism Spectrum Disorder; AD Melanoma, malignant, somatic (3) Noonan Syndrome Nonsmall cell lung cancer, somatic (3) 613706: AD Noonan syndrome 7 Comprehensive Epilepsy and Autism; BRWD3 300553 300659: XLR Mental retardation, XL 93 XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; C12ORF57 615140 218340: AR Temtamy syndrome AR Comprehensive Autism Spectrum Disorder 613227: AR Cerebellar ataxia and mental Comprehensive Epilepsy and Autism; CA8 114815 retardation with or without quadrupedal AR Comprehensive Autism Spectrum Disorder locomotion 3 Comprehensive Epilepsy and Autism; 611875: Brugada syndrome 3 CACNA1C 114205 Comprehensive Autism Spectrum Disorder; AD 601005: AD Timothy syndrome STAT Autism Spectrum Disorder 300422: FG syndrome 4 300749: XLD Mental retardation and Comprehensive Epilepsy and Autism; microcephaly with pontine and cerebellar Comprehensive Epilepsy; Syndromic Epilepsy CASK 300172 XLD hypoplasia and Intellectual Disability; Comprehensive 300422: Mental retardation, with or without Autism Spectrum Disorder; Microcephaly nystagmus 607785: AD, SM ?Juvenile myelomonocytic leukemia Comprehensive Epilepsy and Autism; CBL 165360 613563: AD Noonan syndrome-like disorder Comprehensive Autism Spectrum Disorder; AD, SM with or without juvenile myelomonocytic Noonan Syndrome leukemia Comprehensive Epilepsy and Autism; CC2D1A 610055 608443: AR Mental retardation, AR 3 AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; CCDC22 300859 300963: XLR Ritscher-Schinzel syndrome 2 XLR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Infantile Epilepsy; 300672: XLD Epileptic encephalopathy, early CDKL5 300203 Comprehensive Autism Spectrum Disorder; XLD infantile, 2 STAT Autism Spectrum Disorder; Microcephaly 130650: AD Beckwith-Wiedemann syndrome Comprehensive Epilepsy and Autism; CDKN1C 600856 AD 614732: AD IMAGE syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 615369: AD Epileptic encephalopathy, CHD2 602119 Comprehensive Epilepsy; Infantile Epilepsy; AD childhood-onset Comprehensive Autism Spectrum Disorder 214800: AD CHARGE syndrome Comprehensive Epilepsy and Autism; CHD7 608892 612370: AD Hypogonadotropic hypogonadism AD Comprehensive Autism Spectrum Disorder 5 with or without anosmia Comprehensive Epilepsy and Autism; CHD8 610528 615032: AD {Autism, susceptibility to, 18} AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; CLCN4 302910 300114: XLR Mental retardation, XL 49/15 XLR, XL Comprehensive Autism Spectrum Disorder 612100: {Autism susceptibility 15} Comprehensive Epilepsy and Autism; 610042: Cortical dysplasia-focal epilepsy Comprehensive Epilepsy; Focal, Generalized, CNTNAP2 604569 None syndrome And Myoclonic Epilepsy; Syndromic Epilepsy 610042: Pitt-Hopkins like syndrome 1 and Intellectual Disability; Comprehensive

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy CREBBP 600140 180849: AD Rubinstein-Taybi syndrome 1 AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; CTCF 604167 615502: AD Mental retardation, AD 21 AD Comprehensive Autism Spectrum Disorder 114500: Colorectal cancer, somatic 617572: AD Exudative vitreoretinopathy 7 114550: Hepatocellular carcinoma, somatic Comprehensive Epilepsy and Autism; CTNNB1 116806 155255: Medulloblastoma, somatic AD Comprehensive Autism Spectrum Disorder 615075: AD Mental retardation, AD 19 167000: Ovarian cancer, somatic 132600: Pilomatricoma, somatic 614496: AD Pseudohypoaldosteronism, type Comprehensive Epilepsy and Autism; CUL3 603136 AD IIE Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; CYP27A1 606530 213700: AR Cerebrotendinous xanthomatosis AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; D2HGDH 609186 600721: AR D-2-hydroxyglutaric aciduria AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; DDHD2 615003 615033: AR Spastic paraplegia 54, AR AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; XLD, XLR, DDX3X 300160 300958: XLR, XLD Mental retardation, XL 102 Comprehensive Autism Spectrum Disorder XL 617171: AR ?Dyskinesia, seizures, and Comprehensive Epilepsy and Autism; DEAF1 602635 intellectual developmental disorder AD, AR Comprehensive Autism Spectrum Disorder 615828: AD Mental retardation, AD 24 Comprehensive Epilepsy and Autism; Comprehensive Autism Spectrum Disorder; DHCR7 602858 270400: AR Smith-Lemli-Opitz syndrome AR STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; DIS3L2 614184 267000: AR Perlman syndrome AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; DKC1 300126 305000: XLR Dyskeratosis congenita, XL XLR, XL Comprehensive Autism Spectrum Disorder 300376: XLR Becker muscular dystrophy Comprehensive Epilepsy and Autism; DMD 300377 302045: XL Cardiomyopathy, dilated, 3B XLR, XL Comprehensive Autism Spectrum Disorder 310200: XLR Duchenne muscular dystrophy Comprehensive Epilepsy and Autism; DNMT3A 602769 615879: AD Tatton-Brown-Rahman syndrome AD Comprehensive Autism Spectrum Disorder 274270: AR Dihydropyrimidine dehydrogenase Comprehensive Epilepsy and Autism; DPYD 612779 deficiency AR Comprehensive Autism Spectrum Disorder 274270: AR 5-fluorouracil toxicity 614228: AD Charcot-Marie-Tooth disease, axonal, type 20 Comprehensive Epilepsy and Autism; DYNC1H1 600112 614563: AD Mental retardation, AD 13 Comprehensive Autism Spectrum Disorder; AD 158600: AD Spinal muscular atrophy, lower Microcephaly extremity-predominant 1, AD Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Infantile Epilepsy; DYRK1A 600855 614104: AD Mental retardation, AD 7 AD Syndromic Epilepsy and Intellectual Disability; Comprehensive Autism Spectrum Disorder 302960: XLD Chondrodysplasia punctata, XLD Comprehensive Epilepsy and Autism; EBP 300205 XLD, XLR 300960: XLR MEND syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy EHMT1 607001 610253: AD Kleefstra syndrome AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder 300987: XLR Mental retardation, XL, Comprehensive Epilepsy and Autism; EIF2S3 300161 XLR, XL syndromic, Borck type Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ELP4 606985 617141: AD ?Aniridia 2 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; EZH2 601573 277590: AD Weaver syndrome AD Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; 305400: XLR Aarskog-Scott syndrome Comprehensive Epilepsy; Syndromic Epilepsy FGD1 300546 305400: XLR Mental retardation, XL syndromic XLR, XL and Intellectual Disability; Comprehensive 16 Autism Spectrum Disorder 300624: XLD Fragile X syndrome Comprehensive Epilepsy and Autism; FMR1 309550 300623: XLD Fragile X tremor/ataxia syndrome Comprehensive Autism Spectrum Disorder; XLD, XL 311360: XL Premature ovarian failure 1 STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 613068: AR Neurodegeneration due to Comprehensive Epilepsy; Focal, Generalized, FOLR1 136430 AR cerebral folate transport deficiency And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy FOXG1 164874 613454: AD Rett syndrome, congenital variant AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly 613670: AD Mental retardation with language Comprehensive Epilepsy and Autism; FOXP1 605515 AD impairment and with or without autistic features Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; FOXP2 605317 602081: AD Speech-language disorder-1 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; FTSJ1 300499 309549: XLR Mental retardation, XL 9/44 XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; GATAD2B 614998 615074: AD Mental retardation, AD 18 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; GDI1 300104 300849: XLD Mental retardation, XL 41 XLD, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; GK 300474 307030: XLR Glycerol kinase deficiency XLR Comprehensive Autism Spectrum Disorder 175700: AD Greig cephalopolysyndactyly syndrome 241800: {Hypothalamic hamartomas, somatic} Comprehensive Epilepsy and Autism; GLI3 165240 146510: AD Pallister-Hall syndrome AD Comprehensive Autism Spectrum Disorder 174200: AD Polydactyly, postaxial, types A1 and B 174700: AD Polydactyly, preaxial, type IV Comprehensive Epilepsy and Autism; GNS 607664 252940: AR Mucopolysaccharidosis type IIID AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 312870: XLR Simpson-Golabi-Behmel Comprehensive Epilepsy; Syndromic Epilepsy GPC3 300037 syndrome, type 1 and Intellectual Disability; Comprehensive XLR 194070: Wilms tumor, somatic Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy GRIA3 305915 300699: XLR Mental retardation, XL 94 and Intellectual Disability; Comprehensive XLR, XL Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; GRIK2 138244 611092: AR Mental retardation, AR, 6 AR Comprehensive Autism Spectrum Disorder 616139: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; GRIN2B 138252 infantile, 27 Comprehensive Epilepsy; Infantile Epilepsy; AD 613970: Mental retardation, AD 6 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; GRIP1 604597 219000: AR Fraser syndrome AR Comprehensive Autism Spectrum Disorder 309801: XLD Linear skin defects with multiple Comprehensive Epilepsy and Autism; HCCS 300056 XLD congenital anomalies 1 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; HDAC8 300269 300882: XLD Cornelia de Lange syndrome 5 Comprehensive Autism Spectrum Disorder; XLD Microcephaly 252930: AR Mucopolysaccharidosis type IIIC Comprehensive Epilepsy and Autism; HGSNAT 610453 (Sanfilippo C) AR Comprehensive Autism Spectrum Disorder 616544: AR Retinitis pigmentosa 73 300323: XLR HPRT-related gout Comprehensive Epilepsy and Autism; HPRT1 308000 XLR 300322: XLR Lesch-Nyhan syndrome Comprehensive Autism Spectrum Disorder 109800: {Bladder cancer, somatic} Comprehensive Epilepsy and Autism; 218040: AD, IC Congenital myopathy with HRAS 190020 Comprehensive Autism Spectrum Disorder; AD, IC excess of muscle spindles Noonan Syndrome 218040: AD, IC Costello syndrome

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 162900: {Nevus sebaceous or woolly hair nevus, somatic} 163200: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 137550: {Spitz nevus or nevus spilus, somatic} 188470: {Thyroid carcinoma, follicular, somatic} 300706: Mental retardation, XL syndromic, Comprehensive Epilepsy and Autism; HUWE1 300697 XL Turner type Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; IDS 300823 309900: XLR Mucopolysaccharidosis II XLR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; IL1RAPL1 300206 300143: XLR Mental retardation, XL 21/34 Comprehensive Autism Spectrum Disorder; XLR, XL STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; KAT6A 601408 616268: AD Mental retardation, AD 32 AD Comprehensive Autism Spectrum Disorder 606170: AD Genitopatellar syndrome Comprehensive Epilepsy and Autism; KAT6B 605880 AD 603736: SBBYSS syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; KCTD13 608947 608947: Autism Spectrum disorder None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300534: XLR Mental retardation, XL, KDM5C 314690 and Intellectual Disability; Comprehensive XLR, XL syndromic, Claes-Jensen type Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; KDM6A 300128 300867: XLD Kabuki syndrome 2 XLD Comprehensive Autism Spectrum Disorder 614255: AD Mental retardation, AD 9 614213: AR Neuropathy, hereditary sensory, Comprehensive Epilepsy and Autism; KIF1A 601255 AD, AR type IIC Comprehensive Autism Spectrum Disorder 610357: AR Spastic paraplegia 30, AR Comprehensive Epilepsy and Autism; KIRREL3 607761 612581: Mental retardation, AD 4 AD Comprehensive Autism Spectrum Disorder 159555: AD Leukemia, myeloid/lymphoid or Comprehensive Epilepsy and Autism; KMT2A 159555 mixed-lineage AD Comprehensive Autism Spectrum Disorder 605130: AD Wiedemann-Steiner syndrome 109800: Bladder cancer, somatic 114480: Breast cancer, somatic 615278: Cardiofaciocutaneous syndrome 2 137215: Gastric cancer, somatic 601626: AD Leukemia, acute myeloid Comprehensive Epilepsy and Autism; 211980: Lung cancer, somatic KRAS 190070 Comprehensive Autism Spectrum Disorder; AD 609942: Noonan syndrome 3 Noonan Syndrome 260350: Pancreatic carcinoma, somatic 614470: AD RAS-associated autoimmune leukoproliferative disorder 163200: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 303350: XLR CRASH syndrome 304100: XLR Corpus callosum, partial agenesis of 307000: XLR Hydrocephalus due to aqueductal stenosis Comprehensive Epilepsy and Autism; L1CAM 308840 XLR 307000: XLR Hydrocephalus with Comprehensive Autism Spectrum Disorder Hirschsprung disease 307000: XLR Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 303350: XLR MASA syndrome Comprehensive Epilepsy and Autism; L2HGDH 609584 236792: AR L-2-hydroxyglutaric aciduria AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; LAMC3 604349 614115: AR Cortical malformations, occipital AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; LAMP2 309060 300257: XLD Danon disease XLD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; LAS1L 300964 309585: XLR Wilson-Turner syndrome XLR Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; LINS1 610350 614340: AR Mental retardation, AR 27 AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; LRP2 600073 222448: AR Donnai-Barrow syndrome AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; MAGEL2 605283 615547: AD Schaaf-Yang syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; MAN1B1 604346 614202: AR Mental retardation, AR 15 AR Comprehensive Autism Spectrum Disorder 300615: XLR {Antisocial behavior} Comprehensive Epilepsy and Autism; MAOA 309850 XLR 300615: XLR Brunner syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; MAP2K1 176872 615279: Cardiofaciocutaneous syndrome 3 Comprehensive Autism Spectrum Disorder; None Noonan Syndrome Comprehensive Epilepsy and Autism; MAP2K2 601263 615280: Cardiofaciocutaneous syndrome 4 Comprehensive Autism Spectrum Disorder; None Noonan Syndrome Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy MBD5 611472 156200: AD Mental retardation, AD 1 AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder 308205: XLR IFAP syndrome with or without BRESHECK syndrome Comprehensive Epilepsy and Autism; MBTPS2 300294 308800: XLR Keratosis follicularis spinulosa XLR, XL Comprehensive Autism Spectrum Disorder decalvans, XL 300918: XLR ?Olmsted syndrome, XL 300496: IC, XL, MF {Autism susceptibility, XL 3} 300673: XLR Encephalopathy, neonatal severe Comprehensive Epilepsy and Autism; 300260: XLR Mental retardation, XL Comprehensive Epilepsy; Infantile Epilepsy; syndromic, Lubs type Syndromic Epilepsy and Intellectual Disability; XLD, XLR, MECP2 300005 300055: XLR Mental retardation, XL, Comprehensive Autism Spectrum Disorder; XL, IC, MF syndromic 13 STAT Autism Spectrum Disorder; 312750: XLD Rett syndrome Microcephaly 312750: XLD Rett syndrome, atypical 312750: XLD Rett syndrome, preserved speech variant 309520: XLR Lujan-Fryns syndrome Comprehensive Epilepsy and Autism; MED12 300188 300895: XLR Ohdo syndrome, XL XLR, XL Comprehensive Autism Spectrum Disorder 305450: XLR Opitz-Kaveggia syndrome 616789: AD Mental retardation and distinctive facial features with or without cardiac defects Comprehensive Epilepsy and Autism; MED13L 608771 AD 608808: AD Transposition of the great arteries, Comprehensive Autism Spectrum Disorder dextro-looped 1 Comprehensive Epilepsy and Autism; MED23 605042 614249: AR Mental retardation, AR 18 AR Comprehensive Autism Spectrum Disorder 613443: AD Chromosome 5q14.3 deletion Comprehensive Epilepsy and Autism; syndrome Comprehensive Epilepsy; Syndromic Epilepsy MEF2C 600662 613443: AD Mental retardation, stereotypic AD and Intellectual Disability; Comprehensive movements, epilepsy, and/or cerebral Autism Spectrum Disorder malformations Comprehensive Epilepsy and Autism; MID1 300552 300000: XLR Opitz GBBB syndrome, type I XLR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; DLG3 300189 300850: XLR Mental retardation, XL 90 XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; MYT1L 613084 616521: AD Mental retardation, AD 39 AD Comprehensive Autism Spectrum Disorder 309800: XL ?Microphthalmia, syndromic 1 Comprehensive Epilepsy and Autism; XLD, XLR, NAA10 300013 300855: XLR, XLD Ogden syndrome Comprehensive Autism Spectrum Disorder XL 616491: AD ?Charcot-Marie-Tooth disease, axonal, type 2V Comprehensive Epilepsy and Autism; NAGLU 609701 AD, AR 252920: AR Mucopolysaccharidosis type IIIB Comprehensive Autism Spectrum Disorder (Sanfilippo B) 305390: Exudative vitreoretinopathy 2, XL Comprehensive Epilepsy and Autism; NDP 300658 XLR, XL 310600: XLR Norrie disease Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; NEXMIF 300524 300912: XLR Mental retardation, XL 98 XLR, XL Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 607785: AD, SM Leukemia, juvenile myelomonocytic 162210: AD Neurofibromatosis, familial spinal Comprehensive Epilepsy and Autism; NF1 613113 162200: AD Neurofibromatosis, type 1 Comprehensive Autism Spectrum Disorder; AD, SM 601321: AD Neurofibromatosis-Noonan Noonan Syndrome syndrome 193520: AD Watson syndrome 602535: AD Marshall-Smith syndrome Comprehensive Epilepsy and Autism; NFIX 164005 AD 614753: AD Sotos syndrome 2 Comprehensive Autism Spectrum Disorder 302200: XL Cataract 40, XL Comprehensive Epilepsy and Autism; NHS 300457 XLD, XL 302350: XLD Nance-Horan syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy NIPBL 608667 122470: AD Cornelia de Lange syndrome 1 AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly 300497: IC, XL, MF {Asperger syndrome susceptibility, XL 2} Comprehensive Epilepsy and Autism; NLGN4X 300427 300495: IC, XL, MF {Autism susceptibility, XL Comprehensive Autism Spectrum Disorder; XL, IC, MF 2} STAT Autism Spectrum Disorder 300495: IC, XL, MF Mental retardation, XL 114500: Colorectal cancer, somatic 162900: Epidermal nevus, somatic 137550: Melanocytic nevus syndrome, congenital, somatic 249400: Neurocutaneous melanosis, somatic Comprehensive Epilepsy and Autism; NRAS 164790 613224: AD Noonan syndrome 6 Comprehensive Autism Spectrum Disorder; AD 614470: ?RAS-associated autoimmune Noonan Syndrome lymphoproliferative syndrome type IV, somatic 163200: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 188470: Thyroid carcinoma, follicular, somatic Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 614325: AR Pitt-Hopkins-like syndrome 2 NRXN1 600565 and Intellectual Disability; Comprehensive AR 614332: {Schizophrenia, susceptibility to, 17} Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; NRXN3 600567 600567: Autism spectrum disorder None Comprehensive Autism Spectrum Disorder 130650: AD Beckwith-Wiedemann syndrome Comprehensive Epilepsy and Autism; NSD1 606681 601626: AD Leukemia, acute myeloid Comprehensive Autism Spectrum Disorder; AD 117550: AD Sotos syndrome 1 STAT Autism Spectrum Disorder 308050: XLD CHILD syndrome Comprehensive Epilepsy and Autism; NSDHL 300275 XLD, XLR 300831: XLR CK syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; NSUN2 610916 611091: AR Mental retardation, AR 5 AR Comprehensive Autism Spectrum Disorder 300555: XLR Dent disease 2 Comprehensive Epilepsy and Autism; OCRL 300535 XLR 309000: XLR Lowe syndrome Comprehensive Autism Spectrum Disorder 300804: XLR Joubert syndrome 10 311200: XLD Orofaciodigital syndrome I Comprehensive Epilepsy and Autism; OFD1 300170 300424: XLR ?Retinitis pigmentosa 23 XLD, XLR Comprehensive Autism Spectrum Disorder 300209: XLR Simpson-Golabi-Behmel syndrome, type 2 Comprehensive Epilepsy and Autism; 300486: XLR Mental retardation, XL, with Comprehensive Epilepsy; Syndromic Epilepsy OPHN1 300127 cerebellar hypoplasia and distinctive facial and Intellectual Disability; Comprehensive XLR, XL appearance Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 311250: XLR Ornithine transcarbamylase OTC 300461 Comprehensive Autism Spectrum Disorder; XLR deficiency STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; PACS1 607492 615009: AD Schuurs-Hoeijmakers syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 607432: IC Lissencephaly 1 Comprehensive Epilepsy; Neuronal Migration; PAFAH1B1 601545 IC 607432: IC Subcortical laminar heterotopia Comprehensive Autism Spectrum Disorder; Microcephaly

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; 300088: XL Epileptic encephalopathy, early Comprehensive Epilepsy; Infantile Epilepsy; PCDH19 300460 XL infantile, 9 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder 312170: XLD Pyruvate dehydrogenase E1- Comprehensive Epilepsy and Autism; PDHA1 300502 XLD alpha deficiency Comprehensive Autism Spectrum Disorder 300653: XLR Phosphoglycerate kinase 1 Comprehensive Epilepsy and Autism; PGK1 311800 XLR deficiency Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 301900: XLR Borjeson-Forssman-Lehmann Comprehensive Epilepsy; Syndromic Epilepsy PHF6 300414 XLR syndrome and Intellectual Disability; Comprehensive Autism Spectrum Disorder 300263: XLR Mental retardation syndrome, XL, Comprehensive Epilepsy and Autism; PHF8 300560 XLR, XL Siderius type Comprehensive Autism Spectrum Disorder 614080: AR Multiple congenital anomalies- Comprehensive Epilepsy and Autism; PIGN 606097 AR hypotonia-seizures syndrome 1 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 616267: AR Ataxia-oculomotor apraxia 4 Comprehensive Epilepsy; Infantile Epilepsy; PNKP 605610 613402: AR Microcephaly, seizures, and AR Comprehensive Autism Spectrum Disorder; developmental delay Microcephaly Comprehensive Epilepsy and Autism; POGZ 614787 616364: AD White-Sutton syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; PORCN 300651 305600: XLD Focal dermal hypoplasia XLD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Neuronal Migration; PQBP1 300463 309500: XLR Renpenning syndrome XLR Syndromic Epilepsy and Intellectual Disability; Comprehensive Autism Spectrum Disorder 301835: XLR Arts syndrome 311070: XLR Charcot-Marie-Tooth disease, XLR, 5 Comprehensive Epilepsy and Autism; PRPS1 311850 304500: XL Deafness, XL 1 XLR, XL Comprehensive Autism Spectrum Disorder 300661: XLR Gout, PRPS-related 300661: XLR Phosphoribosylpyrophosphate synthetase superactivity 605462: Basal cell carcinoma, somatic Comprehensive Epilepsy and Autism; PTCH1 601309 109400: AD Basal cell nevus syndrome Comprehensive Autism Spectrum Disorder; AD 610828: AD Holoprosencephaly 7 Microcephaly Comprehensive Epilepsy and Autism; PTCHD1 300828 300830: XLR {Autism, susceptibility to, XL 4} Comprehensive Autism Spectrum Disorder; XLR, XL STAT Autism Spectrum Disorder 153480: AD Bannayan-Riley-Ruvalcaba syndrome 158350: AD Cowden syndrome 1 608089: Endometrial carcinoma, somatic 613028: {Glioma susceptibility 2} 158350: AD Lhermitte-Duclos syndrome Comprehensive Epilepsy and Autism; 605309: AD Macrocephaly/autism syndrome Comprehensive Epilepsy; Focal, Generalized, PTEN 601728 155600: Malignant melanoma, somatic And Myoclonic Epilepsy; Comprehensive AD, AR 607174: AD {Meningioma} Autism Spectrum Disorder; STAT Autism PTEN hamartoma tumor syndrome (3) Spectrum Disorder 176807: {Prostate cancer, somatic} 275355: Squamous cell carcinoma, head and neck, somatic 276950: AR VATER association with macrocephaly and ventriculomegaly 151100: AD LEOPARD syndrome 1 607785: Leukemia, juvenile myelomonocytic, Comprehensive Epilepsy and Autism; PTPN11 176876 somatic Comprehensive Autism Spectrum Disorder; AD 156250: AD Metachondromatosis Noonan Syndrome 163950: AD Noonan syndrome 1 Comprehensive Epilepsy and Autism; PURA 600473 616158: AD Mental retardation, AD 31 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 300271: XLR Mental retardation, XL 72 RAB39B 300774 Comprehensive Epilepsy; Syndromic Epilepsy XLR, XL 311510: XLR ?Waisman syndrome and Intellectual Disability; Comprehensive

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; RAD21 606462 614701: AD Cornelia de Lange syndrome 4 Comprehensive Autism Spectrum Disorder; AD Microcephaly 615916: AD Cardiomyopathy, dilated, 1NN Comprehensive Epilepsy and Autism; RAF1 164760 611554: LEOPARD syndrome 2 Comprehensive Autism Spectrum Disorder; AD 611553: Noonan syndrome 5 Noonan Syndrome Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy RAI1 607642 182290: AD, IC Smith-Magenis syndrome AD, IC and Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Focal, Generalized, RARS2 611524 611523: AR Pontocerebellar hypoplasia, type 6 AR And Myoclonic Epilepsy; Infantile Epilepsy; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; RBM10 300080 311900: XLR TARP syndrome XLR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; RIT1 609591 615355: AD Noonan syndrome 8 Comprehensive Autism Spectrum Disorder; AD Noonan Syndrome 300847: {Autism, susceptibility to, XL 5} Comprehensive Epilepsy and Autism; RPL10 312173 300998: XLR Mental retardation, XL, XLR, XL Comprehensive Autism Spectrum Disorder syndromic, 35 303600: XLD, IC Coffin-Lowry syndrome Comprehensive Epilepsy and Autism; RPS6KA3 300075 XLD, XL, IC 300844: XLD Mental retardation, XL 19 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; SATB2 608148 612313: AD Glass syndrome AD Comprehensive Autism Spectrum Disorder 604403: AD Epilepsy, generalized, with febrile seizures plus, type 2 Comprehensive Epilepsy and Autism; 607208: AD Epileptic encephalopathy, early Comprehensive Epilepsy; Migraine; Syndromic SCN1A 182389 AD infantile, 6 (Dravet syndrome) Epilepsy and Intellectual Disability; 604403: AD Febrile seizures, familial, 3A Comprehensive Autism Spectrum Disorder 609634: AD Migraine, familial hemiplegic, 3 613721: AD Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; infantile, 11 SCN2A 182390 Comprehensive Epilepsy; Infantile Epilepsy; AD 607745: AD Seizures, benign familial infantile, Comprehensive Autism Spectrum Disorder 3 Comprehensive Epilepsy and Autism; 616078: AD Mental retardation, AD 29 Comprehensive Epilepsy; Syndromic Epilepsy SETBP1 611060 269150: AD Schinzel-Giedion midface AD and Intellectual Disability; Comprehensive retraction syndrome Autism Spectrum Disorder Comprehensive Epilepsy and Autism; SETD2 612778 616831: AD Luscan-Lumish syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; SETD5 615743 615761: AD Mental retardation, AD 23 AD Comprehensive Autism Spectrum Disorder 252900: AR Mucopolysaccharidosis type IIIA Comprehensive Epilepsy and Autism; SGSH 605270 AR (Sanfilippo A) Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; SHANK2 603290 613436: {Autism susceptibility 17} Comprehensive Autism Spectrum Disorder; None STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 606232: AD Phelan-McDermid syndrome SHANK3 606230 and Intellectual Disability; Comprehensive AD 613950: {Schizophrenia 15} Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 607721: AD Noonan-like syndrome with loose SHOC2 602775 Comprehensive Autism Spectrum Disorder; AD anagen hair Noonan Syndrome Comprehensive Epilepsy and Autism; SLC16A2 300095 300523: XLD Allan-Herndon-Dudley syndrome XLD Comprehensive Autism Spectrum Disorder 615182: AR Combined D-2- and L-2- Comprehensive Epilepsy and Autism; SLC25A1 190315 AR hydroxyglutaric aciduria Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Focal, Generalized, SLC6A1 137165 616421: AD Myoclonic-atonic epilepsy AD And Myoclonic Epilepsy; Comprehensive Autism Spectrum Disorder

Mail: One Gustave L. Levy Place, Box 1497 CLIA #: 33D2097541 Specimens: 1428 Madison Ave, Atran Bldg, T: 800-298-6470 Page 76 of 125 Rm 2-25 New York, NY 10029 F: 212-241-0139 www.sema4genomics.com

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 607834: {Anxiety-related personality traits} Comprehensive Epilepsy and Autism; SLC6A4 182138 AD 164230: AD {Obsessive-compulsive disorder} Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Infantile Epilepsy; 300352: XLR Cerebral creatine deficiency SLC6A8 300036 Syndromic Epilepsy and Intellectual Disability; XLR syndrome 1 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300243: XLD Mental retardation, XL SLC9A6 300231 and Intellectual Disability; Comprehensive XLD, XL syndromic, Christianson type Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; SMARCA2 600014 601358: AD Nicolaides-Baraitser syndrome AD Comprehensive Autism Spectrum Disorder 614609: AD Coffin-Siris syndrome 4 Comprehensive Epilepsy and Autism; SMARCA4 603254 613325: AD {Rhabdoid tumor predisposition AD Comprehensive Autism Spectrum Disorder syndrome 2} 614608: AD Coffin-Siris syndrome 3 609322: AD {Rhabdoid predisposition syndrome 1} Comprehensive Epilepsy and Autism; SMARCB1 601607 AD 609322: Rhabdoid tumors, somatic Comprehensive Autism Spectrum Disorder 162091: AD {Schwannomatosis-1, susceptibility to} 616938: AD Coffin-Siris syndrome 5 Comprehensive Epilepsy and Autism; SMARCE1 603111 607174: AD {Meningioma, familial, AD Comprehensive Autism Spectrum Disorder susceptibility to} Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy SMC1A 300040 300590: XLD Cornelia de Lange syndrome 2 XLD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; 135300: AD ?Fibromatosis, gingival, 1 SOS1 182530 Comprehensive Autism Spectrum Disorder; AD 610733: AD Noonan syndrome 4 Noonan Syndrome Comprehensive Epilepsy and Autism; SOX11 600898 615866: AD Mental retardation, AD, 27 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; SOX5 604975 616803: AD Lamb-Shaffer syndrome AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; SPRED1 609291 611431: AD Legius syndrome Comprehensive Autism Spectrum Disorder; AD Noonan Syndrome Comprehensive Epilepsy and Autism; 612164: AD Epileptic encephalopathy, early STXBP1 602926 Comprehensive Epilepsy; Infantile Epilepsy; AD infantile, 4 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 300491: XLR, XLD Epilepsy, XL, with variable Comprehensive Epilepsy; Syndromic Epilepsy XLD, XLR, SYN1 313440 learning disabilities and behavior disorders and Intellectual Disability; Comprehensive XL Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy SYNGAP1 603384 612621: AD Mental retardation, AD 5 AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder 314250: XLR Dystonia-Parkinsonism, XL Comprehensive Epilepsy and Autism; TAF1 313650 300966: XLR Mental retardation, XL, XLR, XL Comprehensive Autism Spectrum Disorder syndromic 33 616944: AD Mental retardation, AD 41 Comprehensive Epilepsy and Autism; TBL1XR1 608628 AD 602342: AD Pierpont syndrome Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; TBR1 604616 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; TCF12 600480 615314: AD Craniosynostosis 3 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; TCF20 603107 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 613267: AD Corneal dystrophy, Fuchs Comprehensive Epilepsy; Syndromic Epilepsy TCF4 602272 endothelial, 3 AD and Intellectual Disability; Comprehensive 610954: AD Pitt-Hopkins syndrome Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; THOC2 300395 300957: XLR Mental retardation, XL 12/35 XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; TIMM8A 300356 304700: XLR Mohr-Tranebjaerg syndrome XLR Comprehensive Autism Spectrum Disorder 614970: AR Joubert syndrome 20 Comprehensive Epilepsy and Autism; TMEM231 614949 AR 615397: AR Meckel syndrome 11 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; TMLHE 300777 300872: XLR {Autism, susceptibility to, XL 6} XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; TRAPPC9 611966 613192: AR Mental retardation, AR 13 AR Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; TRIO 601893 617061: AD Mental retardation, AD 44 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 607341: Focal cortical dysplasia, type II, Comprehensive Epilepsy; Syndromic Epilepsy somatic TSC1 605284 and Intellectual Disability; Comprehensive AD 606690: Lymphangioleiomyomatosis Autism Spectrum Disorder; STAT Autism 191100: AD Tuberous sclerosis-1 Spectrum Disorder Comprehensive Epilepsy and Autism; 607341: ?Focal cortical dysplasia, type II, Comprehensive Epilepsy; Syndromic Epilepsy somatic TSC2 191092 and Intellectual Disability; Comprehensive AD 606690: Lymphangioleiomyomatosis, somatic Autism Spectrum Disorder; STAT Autism 613254: AD Tuberous sclerosis-2 Spectrum Disorder Comprehensive Epilepsy and Autism; TSPAN7 300096 300210: XLR Mental retardation, XL 58 XLR, XL Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Neuronal Migration; TUBA1A 602529 611603: AD Lissencephaly 3 AD Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; TUSC3 601385 611093: AR Mental retardation, AR 7 AR Comprehensive Autism Spectrum Disorder 300860: XLR Mental retardation, XL Comprehensive Epilepsy and Autism; UBE2A 312180 XLR, XL syndromic, Nascimento-type Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy UBE3A 601623 105830: IC Angelman syndrome and Intellectual Disability; Comprehensive IC Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly 616801: AR Hypotonia, infantile, with Comprehensive Epilepsy and Autism; UNC80 612636 psychomotor retardation and characteristic AR Comprehensive Autism Spectrum Disorder facies 2 Comprehensive Epilepsy and Autism; 300676: XLR Mental retardation, XL, UPF3B 300298 Comprehensive Autism Spectrum Disorder; XLR, XL syndromic 14 STAT Autism Spectrum Disorder 300919: XLR Mental retardation, XL 99 Comprehensive Epilepsy and Autism; XLD, XLR, USP9X 300072 300968: XLD Mental retardation, XL 99, Comprehensive Autism Spectrum Disorder XL syndromic, female-restricted Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy VPS13B 607817 216550: AR Cohen syndrome AR and Intellectual Disability; Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; WAC 615049 616708: AD Desanto-Shinawi syndrome AD Comprehensive Autism Spectrum Disorder 300894: XLD Neurodegeneration with brain Comprehensive Epilepsy and Autism; WDR45 300526 XLD iron accumulation 5 Comprehensive Autism Spectrum Disorder 610185: AR Cerebellar ataxia, mental Comprehensive Epilepsy and Autism; WDR81 614218 AR retardation, and dysequilibrium syndrome 2 Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; YWHAE 605066 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ZC4H2 300897 314580: XLR Wieacker-Wolff syndrome XLR Comprehensive Autism Spectrum Disorder 300799: Mental retardation, XL syndromic, Comprehensive Epilepsy and Autism; ZDHHC9 300646 XL Raymond type Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy ZEB2 605802 235730: AD Mowat-Wilson syndrome AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; ZMYND11 608668 616083: AD Mental retardation, AD 30 AD Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ZNF407 615894 None None Comprehensive Autism Spectrum Disorder Comprehensive Epilepsy and Autism; ZNF711 314990 300803: XL Mental retardation, XL 97 XL Comprehensive Autism Spectrum Disorder

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive). 2. ARX: The following ARX hg19 coordinates have been excluded from this assay: chrX:25031027-25031926. 3. ATP13A2: The following ATP13A2 hg19 coordinates have been excluded from this assay: chr1:17338212-17338244. 4. ATP7A: The following ATP7A hg19 coordinates have been excluded from this assay: chrX:77269723-77269729 and chrX:77278955-77279156. 5. CDKN1C: The following CDKN1C hg19 coordinates have been excluded from this assay: chr11:2905888-2906730. 6. DMD: The following DMD hg19 coordinates have been excluded from this assay: chrX:31897426-31897627, chrX:32668999-32669253, chrX:32644476-32644680, chrX:31627637-31627838, chrX:32460213-32460334, chrX:31219361-31219367, chrX:31219126-31219287, and chrX:32644160-32644321. 7. EHMT1: The following EHMT1 hg19 coordinates have been excluded from this assay: chr9:140513469-140513512. 8. ELP4: The following ELP4 hg19 coordinates have been excluded from this assay: chr11:31703323-31703634. 9. FMR1: The following FMR1 hg19 coordinates have been excluded from this assay: chrX:147018844-147019305. 10. GK: The following GK hg19 coordinates have been excluded from this assay: chrX:30687487-30687493. 11. HGSNAT: The following HGSNAT hg19 coordinates have been excluded from this assay: chr8:42995524-42995881. 12. HPRT1: The following HPRT1 hg19 coordinates have been excluded from this assay: chrX:133625461-133625467. 13. IDS: The following IDS hg19 coordinates have been excluded from this assay: chrX:148584720-148585050. 14. LAMP2: The following LAMP2 hg19 coordinates have been excluded from this assay: chrX:119604075-119604081. 15. NFIX: The following NFIX hg19 coordinates have been excluded from this assay: chr19:13106640-13106689. 16. NHS: The following NHS hg19 coordinates have been excluded from this assay: chrX:17753589-17753595. 17. OTC: The following OTC hg19 coordinates have been excluded from this assay: chrX:38269298-38269509. 18. SGSH: The following SGSH hg19 coordinates have been excluded from this assay: chr17:78193967-78194168. 19. SHANK2: Analysis of SHANK2 is limited to copy number variants only. 20. SHANK3: Analysis of SHANK3 is limited to copy number variants only. 21. SYNGAP1: The following SYNGAP1 hg19 coordinates have been excluded from this assay: chr6:33388030-33388119. 22. TMLHE: The following TMLHE hg19 coordinates have been excluded from this assay: chrX:154721184-154721338, chrX:154722214-154722372, and chrX:154722006-154722167. 23. TRIO: The following TRIO hg19 coordinates have been excluded from this assay: chr5:14143823-14144002.

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STAT AUTISM SPECTRUM DISORDER SUBPANEL

Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. These disorders affect about 0.9% of the population with an overrepresentation in males. In some cases, autism is part of a more complex genetic syndrome with other characteristics, whereas in other cases, it is an isolated finding. There are several genetic conditions that may have an autism spectrum disorder as part of the clinical phenotype. Those targeted in this genetic test are detailed here. The STAT ASD panel is an early detection screening tool with an expedited turnaround time of 7-10 business days for genetic syndromes with suspected ASD. We estimate that approximately 5% of ASD patients will have a mutation in one of the 30 genes on the STAT ASD Panel.

Eighteen of the 30 genes tested in this panel are X-linked, which means that the risk of male offspring with ASD from a mother carrying a mutation is 50%. Depending on the X-inactivation pattern of the gene, a mother and her daughters may rarely be affected. Exceptions to this are MECP2, CDKL5, and PCDH19 mutations in which females are commonly affected. Males with MECP2 mutations are severely affected and typically die before birth. Both males and females with CDKL5 mutations can be affected. For reasons that are not yet fully understood, males with PCDH19 mutations are usually unaffected. Although X-linked diseases are normally transmitted from mother to son, transmission of an X-linked mutation will occur from an affected father to each daughter, but will not occur from father to son. Fragile X Syndrome is the most common, known single-gene disorder linked to ASD. Fragile X Syndrome, which is caused by variants in the FMR1 gene, accounts for about 2-3 percent of all ASD cases. The STAT ASD panel includes both sequencing of the FMR1 gene as well as Fragile X repeat expansion testing.

Ten of the remaining genes can cause disease in an autosomal dominant pattern. In these cases, an affected parent carrying the mutated gene has a 50% chance of passing it on to an offspring, regardless of gender. However, many of these genes are not fully penetrant and mutations can, in some cases, be carried by an unaffected parent. These parents also have a 50% chance of passing the mutation to an offspring. In most autosomal dominant disorders, a significant percentage of affected individuals are the first ones in their family to have the mutation. This is due to new or “de novo” DNA changes that occurred during the generation of the egg or sperm from which the affected individual developed. The UBE3A gene is a unique case that follows a dominant inheritance pattern; however, the gene is imprinted and mutations in UBE3A can only cause disease if they are inherited maternally or form de novo on the maternal chromosome 15.

Joubert syndrome, Cortical Dysplasia-Focal Epilepsy Syndrome, and Smith-Lemli-Opitz syndrome are autosomal recessive conditions, meaning each parent is a carrier of one mutated gene and the risk of having affected offspring is 25%.

The STAT Autism Spectrum Disorder Subpanel includes the following 30 genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; AHI1 608894 608629: AR Joubert syndrome 3 Comprehensive Autism Spectrum Disorder; AR STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 304340: XLR Mental retardation, XL syndromic AP1S2 300629 and Intellectual Disability; Comprehensive XLR, XL 5 Autism Spectrum Disorder; STAT Autism Spectrum Disorder 308350: XLR Epileptic encephalopathy, early infantile, 1 300215: XL Hydranencephaly with abnormal Comprehensive Epilepsy and Autism; genitalia Comprehensive Epilepsy; Infantile Epilepsy; ARX 300382 300215: XL Lissencephaly, XL 2 Comprehensive Autism Spectrum Disorder; XLR, XL 300419: XLR Mental retardation, XL 29 and STAT Autism Spectrum Disorder; others Microcephaly 309510: XLR Partington syndrome 300004: XL Proud syndrome Comprehensive Epilepsy and Autism; 611875: Brugada syndrome 3 CACNA1C 114205 Comprehensive Autism Spectrum Disorder; AD 601005: AD Timothy syndrome STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 300672: XLD Epileptic encephalopathy, early CDKL5 300203 Comprehensive Epilepsy; Infantile Epilepsy; XLD infantile, 2 Comprehensive Autism Spectrum Disorder;

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; 612100: {Autism susceptibility 15} Comprehensive Epilepsy; Focal, Generalized, 610042: Cortical dysplasia-focal epilepsy And Myoclonic Epilepsy; Syndromic Epilepsy CNTNAP2 604569 None syndrome and Intellectual Disability; Comprehensive 610042: Pitt-Hopkins like syndrome 1 Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Autism Spectrum Disorder; DHCR7 602858 270400: AR Smith-Lemli-Opitz syndrome AR STAT Autism Spectrum Disorder; Microcephaly 300624: XLD Fragile X syndrome Comprehensive Epilepsy and Autism; FMR1 309550 300623: XLD Fragile X tremor/ataxia syndrome Comprehensive Autism Spectrum Disorder; XLD, XL 311360: XL Premature ovarian failure 1 STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 312870: XLR Simpson-Golabi-Behmel Comprehensive Epilepsy; Syndromic Epilepsy GPC3 300037 syndrome, type 1 and Intellectual Disability; Comprehensive XLR 194070: Wilms tumor, somatic Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy GRIA3 305915 300699: XLR Mental retardation, XL 94 and Intellectual Disability; Comprehensive XLR, XL Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; IL1RAPL1 300206 300143: XLR Mental retardation, XL 21/34 Comprehensive Autism Spectrum Disorder; XLR, XL STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300534: XLR Mental retardation, XL, KDM5C 314690 and Intellectual Disability; Comprehensive XLR, XL syndromic, Claes-Jensen type Autism Spectrum Disorder; STAT Autism Spectrum Disorder 300496: IC, XL, MF {Autism susceptibility, XL 3} 300673: XLR Encephalopathy, neonatal severe Comprehensive Epilepsy and Autism; 300260: XLR Mental retardation, XL Comprehensive Epilepsy; Infantile Epilepsy; syndromic, Lubs type Syndromic Epilepsy and Intellectual Disability; XLD, XLR, MECP2 300005 300055: XLR Mental retardation, XL, Comprehensive Autism Spectrum Disorder; XL, IC, MF syndromic 13 STAT Autism Spectrum Disorder; 312750: XLD Rett syndrome Microcephaly 312750: XLD Rett syndrome, atypical 312750: XLD Rett syndrome, preserved speech variant 300497: IC, XL, MF {Asperger syndrome susceptibility, XL 2} Comprehensive Epilepsy and Autism; NLGN4X 300427 300495: IC, XL, MF {Autism susceptibility, XL Comprehensive Autism Spectrum Disorder; XL, IC, MF 2} STAT Autism Spectrum Disorder 300495: IC, XL, MF Mental retardation, XL Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 614325: AR Pitt-Hopkins-like syndrome 2 NRXN1 600565 and Intellectual Disability; Comprehensive AR 614332: {Schizophrenia, susceptibility to, 17} Autism Spectrum Disorder; STAT Autism Spectrum Disorder 130650: AD Beckwith-Wiedemann syndrome Comprehensive Epilepsy and Autism; NSD1 606681 601626: AD Leukemia, acute myeloid Comprehensive Autism Spectrum Disorder; AD 117550: AD Sotos syndrome 1 STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 300486: XLR Mental retardation, XL, with Comprehensive Epilepsy; Syndromic Epilepsy OPHN1 300127 cerebellar hypoplasia and distinctive facial and Intellectual Disability; Comprehensive XLR, XL appearance Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; 311250: XLR Ornithine transcarbamylase OTC 300461 Comprehensive Autism Spectrum Disorder; XLR deficiency STAT Autism Spectrum Disorder 300088: XL Epileptic encephalopathy, early Comprehensive Epilepsy and Autism; PCDH19 300460 XL infantile, 9 Comprehensive Epilepsy; Infantile Epilepsy;

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; PTCHD1 300828 300830: XLR {Autism, susceptibility to, XL 4} Comprehensive Autism Spectrum Disorder; XLR, XL STAT Autism Spectrum Disorder 153480: AD Bannayan-Riley-Ruvalcaba syndrome 158350: AD Cowden syndrome 1 608089: Endometrial carcinoma, somatic 613028: {Glioma susceptibility 2} 158350: AD Lhermitte-Duclos syndrome Comprehensive Epilepsy and Autism; 605309: AD Macrocephaly/autism syndrome Comprehensive Epilepsy; Focal, Generalized, PTEN 601728 155600: Malignant melanoma, somatic And Myoclonic Epilepsy; Comprehensive AD, AR 607174: AD {Meningioma} Autism Spectrum Disorder; STAT Autism PTEN hamartoma tumor syndrome (3) Spectrum Disorder 176807: {Prostate cancer, somatic} 275355: Squamous cell carcinoma, head and neck, somatic 276950: AR VATER association with macrocephaly and ventriculomegaly Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300271: XLR Mental retardation, XL 72 RAB39B 300774 and Intellectual Disability; Comprehensive XLR, XL 311510: XLR ?Waisman syndrome Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; SHANK2 603290 613436: {Autism susceptibility 17} Comprehensive Autism Spectrum Disorder; None STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 606232: AD Phelan-McDermid syndrome SHANK3 606230 and Intellectual Disability; Comprehensive AD 613950: {Schizophrenia 15} Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Infantile Epilepsy; 300352: XLR Cerebral creatine deficiency SLC6A8 300036 Syndromic Epilepsy and Intellectual Disability; XLR syndrome 1 Comprehensive Autism Spectrum Disorder; STAT Autism Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300243: XLD Mental retardation, XL SLC9A6 300231 and Intellectual Disability; Comprehensive XLD, XL syndromic, Christianson type Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; 607341: Focal cortical dysplasia, type II, Comprehensive Epilepsy; Syndromic Epilepsy somatic TSC1 605284 and Intellectual Disability; Comprehensive AD 606690: Lymphangioleiomyomatosis Autism Spectrum Disorder; STAT Autism 191100: AD Tuberous sclerosis-1 Spectrum Disorder Comprehensive Epilepsy and Autism; 607341: ?Focal cortical dysplasia, type II, Comprehensive Epilepsy; Syndromic Epilepsy somatic TSC2 191092 and Intellectual Disability; Comprehensive AD 606690: Lymphangioleiomyomatosis, somatic Autism Spectrum Disorder; STAT Autism 613254: AD Tuberous sclerosis-2 Spectrum Disorder Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy UBE3A 601623 105830: IC Angelman syndrome and Intellectual Disability; Comprehensive IC Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; 300676: XLR Mental retardation, XL, UPF3B 300298 Comprehensive Autism Spectrum Disorder; XLR, XL syndromic 14 STAT Autism Spectrum Disorder

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive). 2. ARX: The following ARX hg19 coordinates have been excluded from this assay: chrX:25031027-25031926. 3. FMR1: The following FMR1 hg19 coordinates have been excluded from this assay: chrX:147018844-147019305. 4. OTC: The following OTC hg19 coordinates have been excluded from this assay: chrX:38269298-38269509. 5. SHANK2: Analysis of SHANK2 is limited to copy number variants only.

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6. SHANK3: Analysis of SHANK3 is limited to copy number variants only.

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MICROCEPHALY PANEL

Microcephaly, holoprosencephaly and lissencephaly are genetically heterogeneous developmental syndromes caused by germline mutations in genes involved in cell proliferation, neuronal migration, and postmigrational cortical development pathways. The general incidence of microcephaly at birth varies from 1.3 to 150 per 100,000 live births, depending on the population and the applied standard deviation threshold to define microcephaly. Performing genetic testing can be clinically useful as congenital and postnatal microcephaly could present as an isolated finding in an individual, be associated with other brain malformations such as cerebellar hypoplasia, or as part of an underlying syndrome.

The Microcephaly Panel includes the following 78 genes.

Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance 243310: AD Baraitser-Winter syndrome 1 ACTB 102630 Microcephaly AD 607371: AD ?Dystonia, juvenile-onset 614583: AD Baraitser-Winter syndrome 2 ACTG1 102560 Microcephaly AD 604717: AD Deafness, AD 20/26 606854: AR Polymicrogyria, bilateral Comprehensive Epilepsy and Autism; ADGRG1 604110 frontoparietal Comprehensive Epilepsy; Neuronal Migration; AR 615752: Polymicrogyria, bilateral perisylvian Microcephaly Comprehensive Epilepsy and Autism; 608097: AR Periventricular heterotopia with ARFGEF2 605371 Comprehensive Epilepsy; Syndromic Epilepsy AR microcephaly and Intellectual Disability; Microcephaly 308350: XLR Epileptic encephalopathy, early infantile, 1 300215: XL Hydranencephaly with abnormal Comprehensive Epilepsy and Autism; genitalia Comprehensive Epilepsy; Infantile Epilepsy; ARX 300382 300215: XL Lissencephaly, XL 2 Comprehensive Autism Spectrum Disorder; XLR, XL 300419: XLR Mental retardation, XL 29 and STAT Autism Spectrum Disorder; others Microcephaly 309510: XLR Partington syndrome 300004: XL Proud syndrome Comprehensive Epilepsy and Autism; ASPM 605481 608716: AR Microcephaly 5, primary, AR Comprehensive Epilepsy; Syndromic Epilepsy AR and Intellectual Disability; Microcephaly 614564: AD ?Cutaneous telangiectasia and Comprehensive Epilepsy and Autism; ATR 601215 cancer syndrome, familial Comprehensive Epilepsy; Syndromic Epilepsy AD, AR 210600: AR Seckel syndrome 1 and Intellectual Disability; Microcephaly ATRIP 606605 None Microcephaly None 300422: FG syndrome 4 300749: XLD Mental retardation and Comprehensive Epilepsy and Autism; microcephaly with pontine and cerebellar Comprehensive Epilepsy; Syndromic Epilepsy CASK 300172 XLD hypoplasia and Intellectual Disability; Comprehensive 300422: Mental retardation, with or without Autism Spectrum Disorder; Microcephaly nystagmus CDK5RAP2 608201 604804: AR Microcephaly 3, primary, AR Microcephaly AR Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Infantile Epilepsy; 300672: XLD Epileptic encephalopathy, early CDKL5 300203 Comprehensive Autism Spectrum Disorder; XLD infantile, 2 STAT Autism Spectrum Disorder; Microcephaly CDON 608707 614226: AD, IC Holoprosencephaly 11 Microcephaly AD, IC 608393: AR Microcephaly 6, primary, AR CENPJ 609279 Microcephaly AR 613676: AR ?Seckel syndrome 4 CEP135 611423 614673: AR Microcephaly 8, primary, AR Microcephaly AR 614852: AR Microcephaly 9, primary, AR CEP152 613529 Microcephaly AR 613823: AR Seckel syndrome 5 CEP63 614724 614728: AR ?Seckel syndrome 6 Microcephaly AR Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy CREBBP 600140 180849: AD Rubinstein-Taybi syndrome 1 AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; 300067: XL Lissencephaly, XL DCX 300121 Comprehensive Epilepsy; Syndromic Epilepsy XL 300067: XL Subcortical laminal heteropia, XL and Intellectual Disability; Microcephaly

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; Comprehensive Autism Spectrum Disorder; DHCR7 602858 270400: AR Smith-Lemli-Opitz syndrome AR STAT Autism Spectrum Disorder; Microcephaly DISP1 607502 None Microcephaly None DLL1 606582 Microcephaly 614228: AD Charcot-Marie-Tooth disease, axonal, type 20 Comprehensive Epilepsy and Autism; DYNC1H1 600112 614563: AD Mental retardation, AD 13 Comprehensive Autism Spectrum Disorder; AD 158600: AD Spinal muscular atrophy, lower Microcephaly extremity-predominant 1, AD 114500: Colorectal cancer, somatic EP300 602700 Microcephaly AD 613684: AD Rubinstein-Taybi syndrome 2 214150: AR Cerebrooculofacioskeletal syndrome 1 133540: AR Cockayne syndrome, type B 278800: AR De Sanctis-Cacchione syndrome ERCC6 609413 211980: AR {Lung cancer, susceptibility to} Microcephaly AD, AR 613761: {Macular degeneration, age-related, susceptibility to, 5} 616946: AD Premature ovarian failure 11 600630: AR UV-sensitive syndrome 1 216400: AR Cockayne syndrome, type A ERCC8 609412 Microcephaly AR 614621: AR UV-sensitive syndrome 2 612702: AD Hypogonadotropic hypogonadism FGF8 600483 Microcephaly AD 6 with or without anosmia 613153: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Comprehensive Epilepsy and Autism; 606612: AR Muscular dystrophy- FKRP 606596 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with or without Microcephaly mental retardation), type B, 5 607155: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 5 611615: AR Cardiomyopathy, dilated, 1X 253800: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 FKTN 607440 613152: AR Muscular dystrophy- Microcephaly AR dystroglycanopathy (congenital without mental retardation), type B, 4 611588: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 4 Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy FOXG1 164874 613454: AD Rett syndrome, congenital variant AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly FOXH1 603621 None Microcephaly None GAS1 139185 None Microcephaly None Comprehensive Epilepsy and Autism; 615849: AD Culler-Jones syndrome GLI2 165230 Comprehensive Epilepsy; Syndromic Epilepsy AD 610829: AD Holoprosencephaly 9 and Intellectual Disability; Microcephaly Comprehensive Epilepsy and Autism; HDAC8 300269 300882: XLD Cornelia de Lange syndrome 5 Comprehensive Autism Spectrum Disorder; XLD Microcephaly 152950: AD Microcephaly with or without KIF11 148760 chorioretinopathy, lymphedema, or mental Microcephaly AD retardation 615411: AD Cortical dysplasia, complex, with KIF2A 602591 Microcephaly AD other brain malformations 3 KNL1 609173 604321: AR Microcephaly 4, primary, AR Microcephaly AR 613154: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and Comprehensive Epilepsy and Autism; eye anomalies), type A, 6 LARGE1 603590 Comprehensive Epilepsy; Neuronal Migration; AR 608840: AR Muscular dystrophy- Microcephaly dystroglycanopathy (congenital with mental retardation), type B, 6

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; MCPH1 607117 251200: AR Microcephaly 1, primary, AR Comprehensive Epilepsy; Syndromic Epilepsy AR and Intellectual Disability; Microcephaly 300496: IC, XL, MF {Autism susceptibility, XL 3} 300673: XLR Encephalopathy, neonatal severe Comprehensive Epilepsy and Autism; 300260: XLR Mental retardation, XL Comprehensive Epilepsy; Infantile Epilepsy; syndromic, Lubs type Syndromic Epilepsy and Intellectual Disability; XLD, XLR, MECP2 300005 300055: XLR Mental retardation, XL, Comprehensive Autism Spectrum Disorder; XL, IC, MF syndromic 13 STAT Autism Spectrum Disorder; 312750: XLD Rett syndrome Microcephaly 312750: XLD Rett syndrome, atypical 312750: XLD Rett syndrome, preserved speech variant 613668: AR Microcephaly, postnatal MED17 603810 Microcephaly AR progressive, with seizures and brain atrophy 604391: AR Ataxia-telangiectasia-like disorder MRE11 600814 Microcephaly AR 1 609135: Aplastic anemia NBN 602667 613065: Leukemia, acute lymphoblastic Microcephaly AR 251260: AR Nijmegen breakage syndrome 614019: AR Lissencephaly 4 (with Comprehensive Epilepsy and Autism; NDE1 609449 microcephaly) Comprehensive Epilepsy; Focal, Generalized, AR 605013: AR ?Microhydranencephaly And Myoclonic Epilepsy; Microcephaly 611291: Severe combined immunodeficiency NHEJ1 611290 with microcephaly, growth retardation, and Microcephaly None sensitivity to ionizing radiation NIN 608684 614851: AR ?Seckel syndrome 7 Microcephaly AR Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy NIPBL 608667 122470: AD Cornelia de Lange syndrome 1 AD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly NODAL 601265 270100: AD Heterotaxy, visceral, 5 Microcephaly AD Comprehensive Epilepsy and Autism; 607432: IC Lissencephaly 1 Comprehensive Epilepsy; Neuronal Migration; PAFAH1B1 601545 IC 607432: IC Subcortical laminar heterotopia Comprehensive Autism Spectrum Disorder; Microcephaly 210720: AR Microcephalic osteodysplastic PCNT 605925 Microcephaly AR primordial dwarfism, type II 256520: AR Neu-Laxova syndrome 1 PHGDH 606879 601815: AR Phosphoglycerate dehydrogenase Microcephaly AR deficiency Comprehensive Epilepsy and Autism; 616267: AR Ataxia-oculomotor apraxia 4 Comprehensive Epilepsy; Infantile Epilepsy; PNKP 605610 613402: AR Microcephaly, seizures, and AR Comprehensive Autism Spectrum Disorder; developmental delay Microcephaly 253280: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 613151: AR Muscular dystrophy- Comprehensive Epilepsy and Autism; POMGNT1 606822 dystroglycanopathy (congenital with mental Comprehensive Epilepsy; Neuronal Migration; AR retardation), type B, 3 Microcephaly 613157: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 3 617123: AR Retinitis pigmentosa 76 236670: AR Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Comprehensive Epilepsy and Autism; 613155: AR Muscular dystrophy- POMT1 607423 Comprehensive Epilepsy; Neuronal Migration; AR dystroglycanopathy (congenital with mental Microcephaly retardation), type B, 1 609308: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 1 613150: AR Muscular dystrophy- Comprehensive Epilepsy and Autism; dystroglycanopathy (congenital with brain and POMT2 607439 Comprehensive Epilepsy; Neuronal Migration; AR eye anomalies), type A, 2 Microcephaly 613156: AR Muscular dystrophy-

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance dystroglycanopathy (congenital with mental retardation), type B, 2 613158: AR Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 2 605462: Basal cell carcinoma, somatic Comprehensive Epilepsy and Autism; PTCH1 601309 109400: AD Basal cell nevus syndrome Comprehensive Autism Spectrum Disorder; AD 610828: AD Holoprosencephaly 7 Microcephaly RAB18 602207 614222: AR Warburg micro syndrome 3 Microcephaly AR RAB3GAP1 602536 600118: AR Warburg micro syndrome 1 Microcephaly AR 212720: AR Martsolf syndrome RAB3GAP2 609275 Microcephaly AR 614225: AR Warburg micro syndrome 2 Comprehensive Epilepsy and Autism; RAD21 606462 614701: AD Cornelia de Lange syndrome 4 Comprehensive Autism Spectrum Disorder; AD Microcephaly 251255: AR Jawad syndrome RBBP8 604124 Pancreatic carcinoma, somatic (3) Microcephaly AR 606744: AR Seckel syndrome 2 616436: AD {Epilepsy, familial temporal lobe, Comprehensive Epilepsy and Autism; 7} RELN 600514 Comprehensive Epilepsy; Neuronal Migration; AD, AR 257320: AR Lissencephaly 2 (Norman-Roberts Microcephaly type) 210710: AR Microcephalic osteodysplastic RNU4ATAC 601428 primordial dwarfism, type I Microcephaly AR 616651: AR Roifman syndrome 142945: AD Holoprosencephaly 3 611638: AD Microphthalmia with coloboma 5 SHH 600725 269160: Schizencephaly Microcephaly AD 147250: AD Single median maxillary central incisor 157170: AD, IC Holoprosencephaly 2 SIX3 603714 Microcephaly AD, IC 269160: Schizencephaly 607196: AR Microcephaly, Amish type Comprehensive Epilepsy and Autism; SLC25A19 606521 613710: AR Thiamine metabolism dysfunction Comprehensive Epilepsy; Syndromic Epilepsy AR syndrome 4 (progressive polyneuropathy type) and Intellectual Disability; Microcephaly Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy 300243: XLD Mental retardation, XL SLC9A6 300231 and Intellectual Disability; Comprehensive XLD, XL syndromic, Christianson type Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy SMC1A 300040 300590: XLD Cornelia de Lange syndrome 2 XLD and Intellectual Disability; Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; SMC3 606062 610759: AD Cornelia de Lange syndrome 3 Comprehensive Epilepsy; Syndromic Epilepsy AD and Intellectual Disability; Microcephaly 614261: AR Microcephaly-capillary STAMBP 606247 Microcephaly AR malformation syndrome STIL 181590 612703: AR Microcephaly 7, primary, AR Microcephaly AR TDGF1 187395 Forebrain defects (3) Microcephaly None TGIF1 602630 142946: AD Holoprosencephaly 4 Microcephaly AD Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Neuronal Migration; TUBA1A 602529 611603: AD Lissencephaly 3 AD Comprehensive Autism Spectrum Disorder; Microcephaly Comprehensive Epilepsy and Autism; 615412: AD Cortical dysplasia, complex, with TUBG1 191135 Comprehensive Epilepsy; Neuronal Migration; AD other brain malformations 4 Microcephaly Comprehensive Epilepsy and Autism; Comprehensive Epilepsy; Syndromic Epilepsy UBE3A 601623 105830: IC Angelman syndrome and Intellectual Disability; Comprehensive IC Autism Spectrum Disorder; STAT Autism Spectrum Disorder; Microcephaly 224050: AR Cerebellar hypoplasia and mental VLDLR 192977 retardation with or without quadrupedal Microcephaly AR locomotion 1

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Gene MIM No. OMIM Phenotype Neurodevelopment Disease Test Category Inheritance Comprehensive Epilepsy and Autism; 604317: AR Microcephaly 2, primary, AR, with WDR62 613583 Comprehensive Epilepsy; Syndromic Epilepsy AR or without cortical malformations and Intellectual Disability; Microcephaly ZIC2 603073 609637: AD Holoprosencephaly 5 Microcephaly AD

1. Abbreviations: Autosomal Dominant (AD); Autosomal Recession (AR); Isolated Cases (IC); Multifactorial (MF); Somatic Mutations (SM; Note: somatic mutations are not reported); XL (X-linked); XLD (X-linked Dominant); and XLR (X-linked Recessive). 2. ARX: The following ARX hg19 coordinates have been excluded from this assay: chrX:25031027-25031926. 3. ATR: The following ATR hg19 coordinates have been excluded from this assay: chr3:142184699-142184705. 4. FKTN: The following FKTN hg19 coordinates have been excluded from this assay: chr9:108368751-108368962. 5. ZIC2: The following ZIC2 hg19 coordinates have been excluded from this assay: chr13:100637565-100637947.

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References

General References:

Autism:

1. C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV,Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S,Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W,MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E,Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E,Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci. 2017 Apr;20(4):602-611. PMID: 28263302 2. Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL, Nurnberger JI Jr, Hallmayer JF. Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet. 2017 Mar 6. doi: 10.1038/nrg.2017.4. [Epub ahead of print] Review. PMID: 28260791 3. Casanova EL, Sharp JL, Chakraborty H, Sumi NS, Casanova MF. Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. Mol Autism. 2016 Mar 15;7:18. doi:10.1186/s13229-016-0082-z. eCollection 2016. PMID: 26985359 4. Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011 Mar 22;1380:42-77. doi: 10.1016/j.brainres.2010.11.078. Epub 2010 Dec 1. Review. PMID: 21129364

Epilepsy:

1. Williams CA, Battaglia A. Molecular biology of epilepsy genes. Exp Neurol. 2013 Jun;244:51-8. doi: 10.1016/j.expneurol.2011.12.001. Epub 2011 Dec 9. PMID: 22178301 2. Stafstrom CE, Carmant L. Seizures and epilepsy: an overview for neuroscientists. Cold Spring Harb Perspect Med. 2015 Jun 1;5(6). pii: a022426. doi: 10.1101/cshperspect.a022426. PMID: 26033084 3. Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21. PMID: 22612257 4. Lee BH, Smith T, Paciorkowski AR. Autism spectrum disorder and epilepsy: Disorders with a shared biology. Epilepsy Behav. 2015 Jun;47:191-201. doi: 10.1016/j.yebeh.2015.03.017. Epub 2015 Apr 19. PMID: 25900226

Microcephaly:

1. Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, Issa MY, Effat L, Ismail S, Aglan MS, Zaki MS. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet A. 2013 Aug;161A(8):1875-81. doi: 10.1002/ajmg.a.36009. Epub 2013 Jun 21. PubMed PMID: 23794361 2. Ashwal S, Michelson D, Plawner L, Dobyns WB; Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2009 Sep 15;73(11):887-97. doi: 10.1212/WNL.0b013e3181b783f7. PubMed PMID: 19752457; PubMed Central PMCID: PMC2744281. 3. Dobyns WB, Das S. LIS1-Associated Lissencephaly/Subcortical Band Heterotopia. 2009 Mar 3 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. http://www.ncbi.nlm.nih.gov/books/NBK5189/ 4. Flore LA, Milunsky JM. Updates in the genetic evaluation of the child with global developmental delay or intellectual disability. Semin Pediatr Neurol. 2012 Dec;19(4):173-80. doi: 10.1016/j.spen.2012.09.004. Review. PubMed PMID: 23245550. 5. Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P. Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol. 2010 Mar;90(3):363-83. doi: 10.1016/j.pneurobio.2009.11.002. Epub 2009 Dec 2. Review. PubMed PMID: 19931588. 6. Solomon BD, et al. Holoprosencephaly Overview. 2000 Dec 27 [Updated 2013 Aug 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. http://www.ncbi.nlm.nih.gov/books/NBK1530/ 7. Tunca Y, Vurucu S, Parma J, Akin R, Désir J, Baser I, Ergun A, Abramowicz M. Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data. Prenat Diagn. 2006 May;26(5):449-53. PubMed PMID: 16532515.

Gene-Specific References:

Autism:

1. Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S,Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weißmann R, Tzschach A,Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW. Mutationsin NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet. 2012 May 4;90(5):847-55. doi: 10.1016/j.ajhg.2012.03.021. Epub 2012 Apr 26. PubMedPMID: 22541559; PubMed Central PMCID: PMC3376487. 2. Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. Adaptor protein complex 4 deficiency causes severe autosomal-recessiveintellectual disability, progressive spastic paraplegia, shy character, and shortstature. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi:10.1016/j.ajhg.2011.04.019. Epub 2011 May 27. PubMed PMID: 21620353; PubMedCentral PMCID: PMC3113253. 3. Adamsen D, Ramaekers V, Ho HT, Britschgi C, Rüfenacht V, Meili D, Bobrowski E,Philippe P, Nava C, Van Maldergem L, Bruggmann R, Walitza S, Wang J, Grünblatt E,Thöny B. Autism spectrum disorder associated with low serotonin in CSF andmutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene. MolAutism. 2014 Aug 13;5:43. doi: 10.1186/2040-2392-5-43. eCollection 2014. PubMedPMID: 25802735; PubMed Central PMCID: PMC4370364. 4. Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N,Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K,Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, RopersHH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Redefining the MED13Lsyndrome. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26.Epub 2015 Mar 11. PubMed PMID: 25758992; PubMed Central PMCID: PMC4592099. 5. Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat. 2003 Dec;22(6):442-50.PubMed PMID: 14635103. 6. Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H,Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, RossA, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB,Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C,Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D,Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM,Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J,Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M,Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D,Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR. Geneticheterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14. PubMed PMID: 25125236;PubMed Central PMCID: PMC4173748. 7. Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr,Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF,Haïssaguerre M, Schimpf R, Borggrefe M, Wolpert C. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized byST- segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007 Jan 30;115(4):442-9. Epub 2007 Jan 15. PubMed PMID: 17224476; PubMed CentralPMCID: PMC1952683. 8. Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, TakadaF, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S,Watanabe Y, Ogura T, Matsubara Y. Gain-of-function mutations in RIT1 cause Noonansyndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20. PubMed PMID: 23791108; PubMed Central PMCID: PMC3710767.

Mail: One Gustave L. Levy Place, Box 1497 CLIA #: 33D2097541 Specimens: 1428 Madison Ave, Atran Bldg, T: 800-298-6470 Page 89 of 125 Rm 2-25 New York, NY 10029 F: 212-241-0139 www.sema4genomics.com

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Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM,Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BB. TRIO loss offunction is associated with mild intellectual disability and affects dendriticbranching and synapse function. Hum Mol Genet. 2016 Mar 1;25(5):892-902. doi:10.1093/hmg/ddv618. Epub 2015 Dec 31. PubMed PMID: 26721934; PubMed CentralPMCID: PMC4754042. 12. Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G,Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; InternationalMolecular Genetic Study of Autism Consortium (IMGSAC), Parr JR, Wilkie AO. Denovo and rare inherited mutations implicate the transcriptional coregulatorTCF20/SPBP in autism spectrum disorder. J Med Genet. 2014 Nov;51(11):737- 47. doi:10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16. PubMed PMID: 25228304; PubMedCentral PMCID: PMC4215269. 13. 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C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV,Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S,Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, PatonT, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W,MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E,Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, SmithIM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, GallagherL, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ,Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E,Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. 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Disclaimer

This test was developed and its performance characteristics were determined by Mount Sinai Genomics, Inc. DBA Sema4 and was considered acceptable for patient testing. It has not been cleared or approved by the FDA. The FDA has determined that such clearance or approval is not necessary. This type of mutation analysis generally provides highly accurate genotype information for microdeletions and microduplications. Despite this level of accuracy, it should be kept in mind that there are many potential sources of diagnostic error, including misidentification of samples, rare polymorphisms, or other rare genetic variants that interfere with analysis. In addition, families should understand the limitations of the testing and that rare diagnostic errors may occur for the reasons described.

Mail: One Gustave L. Levy Place, Box 1497 CLIA #: 33D2097541 Specimens: 1428 Madison Ave, Atran Bldg, T: 800-298-6470 Page 108 of 125 Rm 2-25 New York, NY 10029 F: 212-241-0139 www.sema4genomics.com