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Home , ABCB4, Brody myopathy, Brugada Syndrome, Brunner syndrome, Centronuclear myopathy, Cerebellar hypoplasia

1 - Metabolic

17-hydroxylation activity deficiency (CYP17A1) Cholestasis progressive intrahepatic type 1 (ATP8B1) 3-beta-hydroxysteroid dehydrogenase deficiency type 2 (HSD3B2) Cholestasis progressive intrahepatic type 2 (ABCB11) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL) Cholestasis progressive intrahepatic type 3 (ABCB4) 3-methylglutaconic aciduria type 1 (AUH) Citrin deficiency (SLC25A13) 3-methylglutaconic aciduria type 3 (OPA3) (ASS1) Acyl-CoA medium-chain dehydrogenase deficiency (ACADM) CoA-2 4-dienoyl reductase 1 deficiency (DECR1) Acyl-CoA multiple dehydrogenase deficiency (ETFDH) CoA-3-hydroxyacyl dehydrogenase deficiency (HADH) Acyl-CoA multiple dehydrogenase deficiency (ETFA) CoA-3-methylcrontonyl carboxylase 1 deficiency (MCCC1) Acyl-CoA multiple dehydrogenase deficiency (ETFB) CoA-3-methylcrontonyl carboxylase 2 deficiency (MCCC2) Acyl-CoA short-chain dehydrogenase deficiency (ACADS) Colchicine resistance (ABCB1) Acyl-CoA very long-chain dehydrogenase deficiency (ACADVL) Combined malonic and methylmalonic aciduria (ACSF3) Adenylosuccinase deficiency (ADSL) Combined oxidative phosphorylation deficiency type 1 (GFM1) Adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2) Combined oxidative phosphorylation deficiency type 15 (MTFMT) Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (POR) Combined oxidative phosphorylation deficiency type 2 (MRPS16) Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency (CYP11B1) Combined oxidative phosphorylation deficiency type 3 (TSFM) Adrenal (NR0B1) Combined oxidative phosphorylation deficiency type 4 (TUFM) (HGD) Combined oxidative phosphorylation deficiency type 6 (AIFM1) Alpha methylacyl CoA racemase deficiency (AMACR) Combined oxidative phosphorylation deficiency type 7 (C12ORF65) Alpha-2-macroglobulin deficiency (A2M) Cori Forbes (AGL) Aminoacylase deficiency (ACY1) CPT deficiency (hepatic) type IA (CPT1A) Andersen disease (GBE1) deficiency X-linked (SLC6A8) Anemia dyserythropoietic type 2 (CDAN1) CYP2C19-related poor drug (CYP2C19) Anemia dyserythropoietic type 2 (SEC23B) (CFTR) Antitrypsin-alpha-1 deficiency (SERPINA1) nephropathic (CTNS) (TERC) Cytochrome C oxidase deficiency (COX6B1) Aplastic anemia (TERT) Cytochrome P450 deficiency (CYP1A2) Aplastic anemia (IFNG) D-2-hydroxyglutaric aciduria (D2HGDH) Aplastic anemia (NBN) insipidus nephrogenic X-Linked (AVPR2) Aplastic anemia (PRF1) Diabetes mellitus insulin-resistant with (INSR) Aplastic anemia (SBDS) Diabetes mellitus neonatal (GLIS3) Apolipoprotein C-II deficiency (APOC2) Diabetes mellitus noninsulin-dependent (KCNJ11) Apolipoprotein E deficiency (APOE) Diabetes mellitus permanent neonatal (G6PC2) Apparent mineralocorticoid excess (HSD11B2) Diabetes mellitus permanent neonatal (NEUROG3) Arginase deficiency (ARG1) Diabetes mellitus type 1 (INS) - amidinotransferase deficiency (GATM) (GLA) Argininosuccinic aciduria (ASL) Factor II deficiency (F2) Asparaginesynthetase deficiency (ASNS) Factor V deficiency (F5) Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency (ST6GAL2) Fanconi anemia - XRCCR2 related (XRCC2) Bile acid synthesis defect (CYP7B1) Fanconi anemia type A (FANCA) Biotinidase deficiency (BTD) Fanconi anemia type B (FANCB) Bloom syndrome (BLM) Fanconi anemia type C (FANCC) Bronchiectasis with or without elevated sweat chloride type 2 (SCNN1A) Fanconi anemia type D1 (BRCA2) Carbamoylphosphate synthetase I deficiency (CPS1) Fanconi anemia type D2 (FANCD2) Carnitine deficiency (SLC22A5) Fanconi anemia type E (FANCE) Carnitine palmitoyltransferase IB deficiency (CPT1B) Fanconi anemia type F (FANCF) Carnitine palmitoyltransferase II deficiency (CPT2) Fanconi anemia type G (FANCG) Carnitine-acylcarnitine translocase deficiency (SLC25A20) Fanconi anemia type I (FANCI) Ceroid lipofuscinosis neuronal type 1 (PPT1) Fanconi anemia type J (BRIP1) Ceroid lipofuscinosis neuronal type 10 (CTSD) Fanconi anemia type L (FANCL) Ceroid lipofuscinosis neuronal type 2 (TPP1) Fanconi anemia type M (FANCM) Ceroid lipofuscinosis neuronal type 3 (CLN3) Fanconi anemia type N (PALB2) Ceroid lipofuscinosis neuronal type 4 (DNAJC5) Fanconi anemia type P (SLX4) Ceroid lipofuscinosis neuronal type 5 (CLN5) Fanconi-Bickel syndrome (SLC2A2) Ceroid lipofuscinosis neuronal type 6 (CLN6) Farber disease (ASAH1) Ceroid lipofuscinosis neuronal type 7 (MFSD8) Fish eye disease (LCAT) Ceroid lipofuscinosis neuronal type 8 (CLN8) Fructose intolerance (ALDOB) Chanarin-Dorfman syndrome (ABHD5) Fructose-1,6-bisphosphatase deficiency (FBP1) Cholestasis (intrahepatic) of (ABCB4) Fructosuria essential (KHK)

3 1 - Metabolic Diseases

Fucosidosis (FUCA1) Glycosylation disorder type 2F (SLC35A1) deficiency (FH) Glycosylation disorder type 2G (COG1) Galactokinase deficiency (GALK1) Glycosylation disorder type 2H (COG8) Galactose epimerase deficiency (GALE) Glycosylation disorder type 2I (COG5) Galactosemia (GALT) Glycosylation disorder type 2J (COG4) Galactosialidosis (CTSA) Glycosylation disorder type 2K (TMEM165) Gallbladder disease type 1 (ABCB4) Glycosylation disorder type 2M (SLC35A2) Gaucher disease (GBA) Glycosylation disorder type 3 (COG6) Glucocorticoid deficiency type 1 (MC2R) Glycosylation disorder type IR (DDOST) Glucocorticoid deficiency type 2 (MRAP) Glycosylation disorder x-linked (SSR4) Glucose-6-phosphate dehydrogenase deficiency with nonspherocytic hemolytic GM1-gangliosidosis type 1 (GLB1) anemia (G6PD) GM1-gangliosidosis type 2 (GLB1) Glucose/Galactose malabsorption (SLC5A1) GM2-gangliosidosis type 2 (HEXB) Glutaric acidemia (GCDH) Guanidinoacetate methyltransferase deficiency (GAMT) Glutathione S-transferase theta-1 defficiency (GSTT1) Hartnup disorder (SLC6A19) Glutathione synthetase deficiency (GSS) Hemochromatosis classical (HFE) Glycerol kinase deficiency (GK) Hemochromatosis type 2A (HFE2) Glycogen storage disease of (lethal) (PRKAG2) Hemochromatosis type 2B (HAMP) Glycogen storage disease type 0 (GYS2) Hemochromatosis type 3 (TFR2) Glycogen storage disease type 0 muscle (GYS1) Hemochromatosis type 4 (SLC40A1) Glycogen storage disease type 10 (PGAM2) Hemophilia A (F8) Glycogen storage disease type 11 (LDHA) Holocarboxylase synthetase deficiency (HLCS) Glycogen storage disease type 12 (ALDOA) Hurler syndrome (IDUA) Glycogen storage disease type 13 (ENO3) Hurler-Scheie syndrome (IDUA) Glycogen storage disease type 14 (PGM1) Hypercalcemia infantile type (CYP24A1) Glycogen storage disease type 15 (GYG1) Hypercholanemia (TJP2) Glycogen storage disease type 1A (G6PC) Hypercholesterolemia (ABCA1) Glycogen storage disease type 1B (SLC37A4) Hypercholesterolemia autosomal dominant type 3 (PCSK9) Glycogen storage disease type 1C (SLC37A4) Hypercholesterolemia autosomal recessive (LDLRAP1) Glycogen storage disease type 2 (GAA) Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant (LDLR) Glycogen storage disease type 3 (AGL) Hypercholesterolemia type B autosomanl dominant (APOB) Glycogen storage disease type 4 (GBE1) Hypercholesterolemia, familial (GHR) Glycogen storage disease type 5 (PYGM) Hyperinsulinemic hypoglycemia type 1 (ABCC8) Glycogen storage disease type 6B (PYGL) Hyperinsulinemic hypoglycemia type 2 (KCNJ11) Glycogen storage disease type 7 (PFKM) Hyperinsulinemic hypoglycemia type 3 (GCK) Glycogen storage disease type 9A (PHKA2) Hyperinsulinemic hypoglycemia type 6 (GLUD1) Glycogen storage disease type 9B (PHKB) Hyperlipoproteinemia type 1 (LPL) Glycogen storage disease type 9C (PHKG2) Hypermanganesemia with , and cirrhosis (SLC30A10) Glycosylation disorder type 1A (PMM2) Hyperornithinemia- - Homocitrullinuria syndrome (SLC25A15) Glycosylation disorder type 1B (MPI) Hyperoxaluria type 1 (AGXT) Glycosylation disorder type 1C (ALG6) Hyperoxaluria type 2 (GRHPR) Glycosylation disorder type 1D (ALG3) Hyperphenylalaninemia, BH4-deficient (QDPR) Glycosylation disorder type 1E (DPM1) Hypoaldosteronism congenital due to CMO I deficiency (CYP11B2) Glycosylation disorder type 1F (MPDU1) Hypocalcemia, autosomal dominant 2 (GNA11) Glycosylation disorder type 1G (ALG12) Hypocalciuric hypercalcemia, familial, type III (AP2S1) Glycosylation disorder type 1H (ALG8) Hypomagnesemia type 1 (TRPM6) Glycosylation disorder type 1I (ALG2) Hypomagnesemia type 2 (FXYD2) Glycosylation disorder type 1J (DPAGT2) Hypomagnesemia type 3 (CLDN16) Glycosylation disorder type 1K (ALG1) Hypomagnesemia type 4 (EGF) Glycosylation disorder type 1L (ALG9) Hypomagnesemia type 5 (CLDN19) Glycosylation disorder type 1M (DOLK) Hypomagnesemia type 6 (CNNM2) Glycosylation disorder type 1N (RFT1) Insulin-like growth factor resistance (IGF1R) Glycosylation disorder type 1O (DPM3) (IVD) Glycosylation disorder type 1S (ALG13) Krabbe disease (GALC) Glycosylation disorder type 2A (MGAT2) L-2-hydroxyglutaric aciduria (L2HGDH) Glycosylation disorder type 2B (MOGS) Lacticacidemia due to PDX1 deficiency (PDHX) Glycosylation disorder type 2C (SLC35C1) LACTOSE INTOLERANCE, ADULT TYPE (MCM6) Glycosylation disorder type 2D (B4GALT1) LCAD deficiency (ACADL) Glycosylation disorder type 2E (COG7)

4 1 - Metabolic Diseases

LCAT DEFICIENCY (LCAT) Muscle glycogenosis (PHKA1) Lipodystrophy generalized type 1 (AGPAT2) Myoadenylate deaminase deficiency (AMPD1) Lipodystrophy generalized type 2 (BSCL2) N-acetylglutamate synthase deficiency (NAGS) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA) Neuraminidase deficiency (NEU1) alpha-beta hydrolase deficiency type 1 (LABH1) Niemann-Pick disease type A/B (SMPD1) Lysosomal acid phosphatase deficiency (ACP2) Niemann-Pick disease type C1 (NPC1) Mannose-binding deficiency (MBL2) Niemann-Pick disease type C2 (NPC2) Mannosidosis-alpha (MAN2B1) Ornithine transcarbamoylase deficiency (OTC) Mannosidosis-beta (MANBA) Orotic aciduria (UMPS) Maple sirup urine disease type 2 (DBT) Pentosuria (DCXR) Maple sirup urine disease type 3 (DLD) Periodic autosomal dominant (TNFRSF1A) Maple syrup urine disease type 1a (BCKDHA) (PAH) Maple syrup urine disease type 1b (BCKDHB) Phosphoglycerate dehydrogenase deficiency (PHGDH) Maturity-onset diabetes of the young NKX2-2 related (NKX2-2) Phosphoribosylpyrophosphate synthetase superactivity (PRPS1) Maturity-onset diabetes of the young RFX6 related (RFX6) Phosphoserine aminotransferase deficiency (PSAT1) Maturity-onset diabetes of the young type 1 (HNF4A) Phosphoserine phosphatase deficiency (PSPH) Maturity-onset diabetes of the young type 10 (INS) Pompe disease (GAA) Maturity-onset diabetes of the young type 11 (BLK) Porphyria acute intermittent (HMBS) Maturity-onset diabetes of the young type 2 (GCK) Porphyria congenital erythropoietic (UROS) Maturity-onset diabetes of the young type 3 (HNF1A) (PCCA) Maturity-onset diabetes of the young type 4 (PDX1) Propionic acidemia (PCCB) Maturity-onset diabetes of the young type 5 (HNF1B) Prosaposin deficiency (PSAP) Maturity-onset diabetes of the young type 6 (NEUROD1) Pseudohermaphroditism with gynecomastia (HSD17B3) Maturity-onset diabetes of the young type 7 (KLF11) Pyridoxamine 5'-phosphate oxidase deficiency (PNPO) Maturity-onset diabetes of the young type 8 (CEL) Pyruvate carboxylase deficiency (PC) Maturity-onset diabetes of the young type 9 (PAX4) Pyruvate dehydrogenase E1-alpha deficiency (PDHA1) Maturity-onset diabetes of the young ZFP57 related (ZFP57) Pyruvate dehydrogenase E1-beta deficiency (PDHB) Mediterranean fever (MEFV) Pyruvate dehydrogenase E2 deficiency (DLAT) Metachromatic Leukodystrophy (ARSA) Pyruvate dehydrogenase phosphatase deficiency (PDP1) Methylacetoacetic aciduria (ACAT1) Pyruvate kinase deficiency with hemolytic anemia (PKLR) Methylcobalamin deficiency CblG type (MTR) Refsum disease (PHYH) Methylmalonic aciduria Cb1D type (MMADHC) Refsum disease (PEX7) Methylmalonic aciduria Cb1F type (LMBRD1) Riboflavinresponsive multiple acyl-CoA dehydrogenase deficiency (ETFDH) Methylmalonic aciduria Cb1J type (ABCD4) Sandhoff disease (HEXB) Methylmalonic aciduria CbIA type (MMAA) Scheie syndrome (IDUA) Methylmalonic aciduria CbIC type (MMACHC) Schindler disease (NAGA) Methylmalonic aciduria CbIR type (CD320) Succinyl CoA:3-oxoacid CoA transferase deficiency (OXCT1) Methylmalonic aciduria CblB type (MMAB) Sucrase-isomaltase deficiency (SI) Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MUT) Sulfatase deficiency (SUMF1) Mevalonic aciduria (MVK) Sulfite oxidase deficiency (SUOX) Microvascular complications of diabetes 1 (VEGFA) Surfactant metabolism dysfunction (SFTPD) Molybdenum cofactor deficiency type A (MOCS1) Surfactant metabolism dysfunction type 1 (SFTPB) Molybdenum cofactor deficiency type B (MOCS2) Surfactant metabolism dysfunction type 2 (SFTPC) Mucolipidosis type (GNPTAB) Surfactant metabolism dysfunction type 3 (ABCA3) Mucolipidosis type 3 (GNPTAB) Surfactant metabolism dysfunction type 4 (CSF2RA) Mucolipidosis type 3 gamma (GNPTG) Surfactant metabolism dysfunction type 5 (CSF2RB) Mucolipidosis type 4 (MCOLN1) (ABCA1) type 2 (IDS) Tay-Sachs disease (HEXA) Mucopolysaccharidosis type 3A (SGSH) Tay-Sachs disease AB variant (GM2A) Mucopolysaccharidosis type 3B (NAGLU) Thiamine metabolism dysfunction syndrome type 5 (TPK1) Mucopolysaccharidosis type 3C (HGSNAT) TPMT deficiency (TPMT) Mucopolysaccharidosis type 3D (GNS) Transaldolase defeciency (TALDO1) Mucopolysaccharidosis type 4A (GALNS) Transcobalamin II deficiency (TCN2) Mucopolysaccharidosis type 4B (GLB1) Trifunctional protein deficiency (HADHA) Mucopolysaccharidosis type 6 (ARSB) (FMO3) Mucopolysaccharidosis type 7 (GUSB) kinase 2 deficiency (TYK2) Mucopolysaccharidosis type 9 (HYAL1) type 1 (FAH) Mucopolysaccharidosis type IH (IDUA) Tyrosinemia type 1B (GSTZ1)

5 1 - Metabolic Diseases

Urbach-Wiethe disease (ECM1) Wolman disease (LIPA) Von-Gierke disease (G6PC) Xanthinuria type 1 (XDH) Wilson disease (ATP7B) 2 - Neurological Diseases

2.1 - Hereditary Spastic Paraplegias (SPG)

2.1.1 - Spastic Paraplegia (SPG), Autosomal Dominant

SPG10 (KIF5A) SPG3A (ATL1) SPG12 (RTN2) SPG4 (SPAST) SPG13 (HSPD1) SPG42 (SLC33A1) SPG17 (BSCL2) SPG6 (NIPA1) SPG31 (REEP1) SPG8 (KIAA0196) SPG33 (ZFYVE27) 2.1.2 - Spastic Paraplegia (SPG), Autosomal Recessive

SPG11 (SPG11) SPG44 (GJC2) SPG15 (ZFYVE26) SPG47 (AP4B1) SPG20 (SPG20) SPG50 (AP4M1) SPG21 (SPG21) SPG53 (VPS37A) SPG30 (KIF1A) SPG56 (CYP2U1) SPG35 (FA2H) SPG5A (CYP7B1) SPG39 (PNPLA6) SPG7 (SPG7) 2.1.3 - Spastic Paraplegia (SPG), X-linked

SPG1 (L1CAM) SPG2 (PLP1) 2.1.4 - Other Spastic Paraplegia (SPG) Forms

Leukodystrophy with dysmyelination and spastic paraparesis with or without dystonia (SPG35) (FA2H) 2.2 - Hereditary Polyneuropathies (HMSN)

2.2.1 - CMT1

CMT1A (PMP22) CMT1E (PMP22) CMT1B (MPZ) CMT1F (NEFL) CMT1C (LITAF) Neuropathy with liability to pressure palsies [HNPP] (PMP22) CMT1D (EGR2) Roussy-Levy syndrome (PMP22) 2.2.2 - CMT2

CMT2, unclassified (AARS) CMT2E (NEFL) CMT2A1 (KIF1B) CMT2F (HSPB1) CMT2A2 (MFN2) CMT2I (MPZ) CMT2B (RAB7A) CMT2J (MPZ) CMT2B1 (LMNA) CMT2K (GDAP1) CMT2B2 (MED25) CMT2L (HSPB8) CMT2C (TRPV4) CMT2O (DYNC1H1) CMT2D (GARS)

6 2.2.3 - Dejerine-Sottas-Syndrome

Dejerine-Sottas disease (MPZ) Dejerine-Sottas disease (EGR2) Dejerine-Sottas disease (PMP22) Dejerine-Sottas disease (GJB1) Dejerine-Sottas disease (PRX) 2.2.4 - CMT4

CMT4-CTDP1 related (CTDP1) CMT4E (EGR2) CMT4A (GDAP1) CMT4E (MPZ) CMT4B1 (MTMR2) CMT4F (PRX) CMT4B2 (SBF2) CMT4H (FGD4) CMT4C (SH3TC2) CMT4J (FIG4) CMT4D (NDRG1) 2.2.5 - Autonomic Neuropathies

46,XY gonadal dysgenesis, partial, with minifascicular neuropathy (DHH) HSAN3 (IKBKAP) HSAN1 (SPTLC1) HSAN4 (NTRK1) HSAN2A (WNK1) HSAN5 (NGF) HSAN2B (FAM134B) HSN2C (KIF1A) 2.2.6 - Pure Motor Neuropathies

Muscular distal spinal, autosomal recessive type 4 (PLEKHG5) Neuronopathy distal hereditary motor type 6 (IGHMBP2) Neuronopathy distal hereditary motor type 2A (HSPB8) Neuronopathy distal hereditary motor type 7B (DCTN1) Neuronopathy distal hereditary motor type 2B (HSPB1) Neuronopathy X-linked distal hereditary motor (ATP7A) Neuronopathy distal hereditary motor type 5 (GARS) Neuropathy distal motor, autosomal recessive (DNAJB2) 2.2.7 - Others

Agenesis of the with (SLC12A6) DI-CMTD (MPZ) Amyloidosis (TTR) Erythermalgia, primary (SCN9A) Amyloidosis, finnish type (GSN) Facial paresis type 3 (HOXB1) Amyotrophy hereditary neuralgic (SEPT9) (GAN) telangiectasia like disorder (MRE11A) Neurodegeneration due to cerebral folate transport deficiency (FOLR1) Autosomal dominant spastic ataxia (VAMP1) Neuronal migration disorder (CTNNA2) Cataracts with facial dysmorphism and neuropathy (CTDP1) Neuropathy sensor type IE (DNMT1) Charcot-Marie-Tooth disease, dominant intermediate (GNB4) Neuropathy with sensory ataxic, and progressive external opthalmoplegia CMTX1 (GJB1) (C10ORF2) CMTX5 (PRPS1) Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis (POLG) DI-CMTB (DNM2) Neuropathy, hereditary sensory and autonomic type 2 (SCN9A) DI-CMTC (YARS) Slowed nerve conduction velocity autosomanal dominant (ARHGEF10) with axonal neuropathy, autosomal recessive (TDP1) 2.3 - Non-Ataxic Movement Disorders

2.3.1 - Dystonia

Cervical dystonia (CIZ1) DYT16 (PRKRA) , hereditary benign (NKX2-1) DYT18 (SLC2A1) Choreoacanthocytosis (VPS13A) DYT24 (ANO3) Dystonia juvenile-onset (ACTB) DYT25 (GNAL) Dystonia, DOPA-responsive, autosomanl recessive (SPR) DYT3 (TAF1) Dystonia-deafness syndrome (TIMM8A) DYT4 (TUBB4A) Dystonia-deafness syndrome (TIMM8A) DYT5A (GCH1) DYT1 (TOR1A) DYT5A (TH) DYT10 (PRRT2) DYT6 (THAP1) DYT11 (SGCE) DYT8 (SLC2A1) DYT12 (ATP1A3)

7 2.3.1 - Dystonia

Mirror movements, congenital (RAD51) Paroxysmal nonkinesigenic dyskinesia (PNKD) 2.3.2 - Parkinsonism

PARK1 Parkinson (SNCA) PARK5 Parkinson (UCHL1) PARK13 Parkinson (HTRA2) PARK6 Parkinson (PINK1) PARK14 Parkinson (PLA2G6) PARK7 Parkinson (PARK7) PARK15 Parkinson (FBXO7) PARK8 Parkinson (LRRK2) PARK17 Parkinson (VPS35) PARK9 Parkinson (ATP13A2) PARK19 Parkinson (DNAJC6) Parkinsonism-Dystonia, infantile (SLC6A3) PARK2 Parkinson (PARK2) Tremor essential type 4 (FUS) PARK20 Parkinson (SYNJ1) 2.4 - and Trinucleotide Expansion Diseases

Ataxia and muscle (COX20) Spinal and bulbar muscular atrophy X-linked (AR) Ataxia, posterior column, with (FLVCR1) Spinocerebellar ataxia infantile-onset (C10ORF2) Ataxia-oculomotor apraxia type 1 (APTX) Spinocerebellar ataxia type 1, autosomal dominant (ATXN1) Ataxia-oculomotor apraxia type 2 (SETX) Spinocerebellar ataxia type 10, autosomal dominant (ATXN10) Ataxia-oculomotor apraxia type 3 (PIK3R5) Spinocerebellar ataxia type 10, autosomal recessive (ANO10) Ataxia-telangiectasia (ATM) Spinocerebellar ataxia type 11, autosomal dominant (TTBK2) (CP) Spinocerebellar ataxia type 12, autosomal dominant (PPP2R2B) Cerebellar ataxia with deafness and narcolepsy, autosomal recessive (DNMT1) Spinocerebellar ataxia type 13, autosomal dominant (KCNC3) Cerebellar ataxia with spasticity (GBA2) Spinocerebellar ataxia type 13, autosomal recessive (GRM1) Cerebellar ataxia, autosomal recessive (SYNE1) Spinocerebellar ataxia type 14, autosomal dominant (PRKCG) type 1 (COQ2) Spinocerebellar ataxia type 15, autosomal dominant (ITPR1) Coenzyme Q10 deficiency type 1 (COQ2) Spinocerebellar ataxia type 17, autosomal dominant (TBP) Coenzyme Q10 deficiency type 2 (PDSS1) Spinocerebellar ataxia type 18, autosomal dominant (IFRD1) Coenzyme Q10 deficiency type 3 (PDSS2) Spinocerebellar ataxia type 2, autosomal dominant (ATXN2) Coenzyme Q10 deficiency type 5 (COQ9) Spinocerebellar ataxia type 22, autosomal dominant (KCND3) Dentatorubral-pallidoluysian atrophy (ATN1) Spinocerebellar ataxia type 23, autosomal dominant (PDYN) type 1 (KCNA1) Spinocerebellar ataxia type 27, autosomal dominant (FGF14) Episodic ataxia type 2 (CACNA1A) Spinocerebellar ataxia type 28, autosomal dominant (AFG3L2) Episodic ataxia type 5 (CACNB4) Spinocerebellar ataxia type 29, autosomal dominant (ITPR1) Episodic ataxia type 6 (SLC1A3) Spinocerebellar ataxia type 3, autosomal dominant (ATXN3) Familial type 1 (CACNA1A) Spinocerebellar ataxia type 31, autosomal dominant (BEAN1) Familial hemiplegic migraine type 2 (ATP1A2) Spinocerebellar ataxia type 35, autosomal dominant (TGM6) Familial hemiplegic migraine type 3 (SCN1A) Spinocerebellar ataxia type 36, autosomal dominant (NOP56) (FMR1) Spinocerebellar ataxia type 4, autosomal dominant (PLEKHG4) Friedreich ataxia (FXN) Spinocerebellar ataxia type 5, autosomal dominant (SPTBN2) Huntington disease (HTT) Spinocerebellar ataxia type 6, autosomal dominant (CACNA1A) Huntington disease-like type 1 (PRNP) Spinocerebellar ataxia type 7, autosomal dominant (ATXN7) Huntington disease-like type 2 (JPH3) Spinocerebellar ataxia type 7, autosomal recessive (TPP1) Infantile neuroaxonal dystrophy type I (PLA2G6) Spinocerebellar ataxia type 8, autosomal dominant (ATXN8) type 1 (DMPK) Spinocerebellar ataxia type 9, autosomal rececssive (ADCK3) Myotonic dystrophy type 2 (CNBP) Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (TDP1) Salih ataxia (KIAA0226) Vitamin E familial deficiency (TTPA) Spastic ataxia Charlevoix-Saguenay type (SACS) 2.5 - Leukodystrophies and Other Diseases

Achalasia addisonianism alacrimia syndrome (AAAS) Aicardi-Goutieres syndrome type 5 (SAMHD1) (KIF7) (GFAP) Acyl-CoA peroxisomal oxidase deficiency (ACOX1) Allan-Herndon-Dudley syndrome (SLC16A2) (ABCD1) Asperger syndrome susceptibility X-linked type 2 (NLGN3) Aicardi-Goutieres syndrome type 1 (TREX1) and cerebellar atrophy with hypomethylation (DYT4) (TUBB4A) Aicardi-Goutieres syndrome type 2 (RNASEH2B) Budd-Chiari syndrome (F5) Aicardi-Goutieres syndrome type 3 (RNASEH2C) Budd-Chiari syndrome (JAK2) Aicardi-Goutieres syndrome type 4 (RNASEH2A)

8 2.5 - Leukodystrophies and Other Brain Diseases

Canavan disease (ASPA) Krabbe disease (GALC) Central hypoventilation syndrome (ASCL1) (MTND3) Central hypoventilation syndrome with or without Hirschsprung disease (PHOX2B) Leigh syndrome (BCS1L) and mental retardation with or without quadrupedal Leigh syndrome (NDUFAF6) locomotion type 1 (VLDLR) Leigh syndrome (COX15) Cerebrotendinous xanthomatosis (CYP27A1) Leigh syndrome (FOXRED1) COACH syndrome (TMEM67) Leigh syndrome (NUBPL) COACH syndrome (CC2D2A) Leigh syndrome (NDUFA10) COACH syndrome (RPGRIP1L) Leigh syndrome (NDUFA2) Cohen syndrome (VPS13B) Leigh syndrome (NDUFAF1) Corpus callosum agenesis of with mental retardation ocular and Leigh syndrome (NDUFAF2) micrognathia (IGBP1) Leigh syndrome (NDUFAF3) Encephalomyopathy, mitochondrial (MT-TL2) Leigh syndrome (NDUFA9) acute necrotizing type 1 (RANBP2) Leigh syndrome (NDUFA13) Encephalopathy neonatal severe (MECP2) Leigh syndrome (NDUFS3) Encephalopathy thiamine-responsive (SLC19A3) Leigh syndrome (NDUFS4) Encephalopathy with neuroserpin inclusion bodies (SERPINI1) Leigh syndrome (NDUFS7) Epileptic encephalopathy, Lennox-Gastaut type (MAPK10) Leigh syndrome (NDUFS8) Ethylmalonic encephalopathy (ETHE1) Leigh syndrome and mitochondrial encephalopathy (ACAD9) Fucosidosis (FUCA1) Leigh syndrome due to COX deficiency (SURF1) (AMT) Leigh syndrome due to pyruvate carboxylase deficiency (PC) Glycine encephalopathy (GCSH) Leigh syndrome due to the mitochondrial complex IV deficiency (TACO1) Glycosylation disorde type 2C (SLC35C1) Leigh syndrome, French-Canadian type (LRPPRC) Glycosylation disorde type 2A (MGAT2) Leukodystrophy (LAMB1) Glycosylation disorder type 1C (ALG6) Leukodystrophy demyelinating adult-onset, autosomal dominant (LMNB1) Glycosylation disorder type 1E (DPM1) Leukodystrophy hypomyelinating (GJC2) Glycosylation disorder type 1J (DPAGT1) Leukodystrophy hypomyelinating type 3 (AIMP1) Glycosylation disorder type 1M (DOLK) Leukodystrophy hypomyelinating type 4 (HSPD1) Glycosylation disorder type 2D (B4GALT1) Leukodystrophy hypomyelinating type 5 (FAM126A) Glycosylation disorder type 2E (COG7) Leukodystrophy hypomyelinating type 7 (POLR3A) Glycosylation disorder type 2F (SLC35A1) Leukodystrophy hypomyelinating type 8 (POLR3B) Glycosylation disorder type 2G (COG1) Leukoencephalopathy with and involvement and lactate elevation Glycosylation disorder type 2H (COG8) (DARS2) GM1-gangliosidosis (GLB1) Leukoencephalopathy with dystonia and motor neuropathy (SCP2) type 2 (RAB27A) Leukoencephalopathy with vanishing white matter (EIF2B1) with abnormal genitalia/ X-linked 2 (ARX) Leukoencephalopathy with vanishing white matter (EIF2B2) with aqueductal stenosis and congenital intestinal Leukoencephalopathy with vanishing white matter (EIF2B3) pseudoobstraction (L1CAM) Leukoencephalopathy with vanishing white matter (EIF2B4) Hydrocephalus, nonsyndromic, autosomal recessive type 1 (CCDC88C) Leukoencephalopathy with vanishing white matter (EIF2B5) Hydrocephalus, nonsyndromic, autosomal recessive type 2 (MPDZ) Leukoencephalopathy, cystic without (RNASET2) Insensitivity to pain, -associated (SCN9A) Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R) Joubert syndrome type 1 (INPP5E) Leukoencephalopathy, diffuse, CSF1-related (CSF1) Joubert syndrome type 10 (OFD1) Lissencephaly type 4 with (NDE1) Joubert syndrome type 13 (TCTN1) Mandibulofacial dysostosis with microcephaly (EFTUD2) Joubert syndrome type 14 (TMEM237) Megalencephalic leukoencephalopathy with subcortical cysts (MLC1) Joubert syndrome type 15 (CEP41) Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM) Joubert syndrome type 16 (TMEM138) Mental retardation with language impairment and autistic features (FOXP1) Joubert syndrome type 17 (C5orf42) MERRF syndrome (MT-TK) Joubert syndrome type 2 (TMEM216) MERRF, 2. level m8356, m8363, m8361 in MTTK, m611, m15967 in MTTP (MT-TP) Joubert syndrome type 20 (TMEM231) Metachromatic leukodystrophy due to Saposin B deficiency (PSAP) Joubert syndrome type 3 (AHI1) Mitochondrial complex I deficiency (NDUFAF4) Joubert syndrome type 4 (NPHP1) Mitochondrial complex I deficiency (NDUFS1) Joubert syndrome type 5 (CEP290) Mitochondrial complex I deficiency (NDUFS2) Joubert syndrome type 6 (TMEM67) Mitochondrial complex I deficiency (FOXRED1) Joubert syndrome type 7 (RPGRIP1L) Mitochondrial complex I deficiency (NDUFA11) Joubert syndrome type 8 (ARL13B) Mitochondrial complex I deficiency (NDUFV1) Joubert syndrome type 9 (CC2D2A) Mitochondrial complex I deficiency (NDUFV2) Joubert syndrome, EXOC8 related (EXOC8) Mitochondrial complex I deficiency (NDUFS4) Joubert syndrome, EXOSC8 related (EXOSC8) Mitochondrial complex I deficiency (NDUFS6) Kearns-Sayre syndrome (mtDNA) Kenny-Caffey syndrome, type 2 (FAM111A)

9 2.5 - Leukodystrophies and Other Brain Diseases

Mitochondrial complex I deficiency (NDUFAF5) Pontocerebellar hypoplasia type 1A (VRK1) Mitochondrial complex I deficiency (NDUFAF1) Pontocerebellar hypoplasia type 1B (EXOSC3) Mitochondrial complex I deficiency (NDUFAF3) Pontocerebellar hypoplasia type 2A (TSEN54) Mitochondrial complex II deficiency (SDHAF1) Pontocerebellar hypoplasia type 2B (TSEN2) Mitochondrial complex III deficiency (TTC19) Pontocerebellar hypoplasia type 2C (TSEN34) Mitochondrial complex III deficiency (BCS1L) Pontocerebellar hypoplasia type 4 (TSEN54) Mitochondrial complex III deficiency (UQCRB) Pontocerebellar hypoplasia type 6 (RARS2) Mitochondrial complex III deficiency (UQCRQ) Pontocerebellar hypoplasia type 8 (CHMP1A) Mitochondrial complex III deficiency (UQCRC2) type 2 (COL4A2) Mitochondrial complex IV deficiency (FASTKD2) Progressive external ophthalmoplegia with mitochondrial deletions autosomal recessive Mitochondrial complex V (ATP synthase) deficiency (MT-ATP6) (POLG) Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (ATPAF2) Progressive external ophthalmoplegia with mitochondrial deletions type 1 (POLG) Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70) Progressive external ophthalmoplegia with mitochondrial deletions type 3 (C10ORF2) Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (ATP5E) Progressive external ophthalmoplegia with mitochondrial deletions type 4 (POLG2) Mitochondrial DNA depletion syndrome type 4A (POLG) Progressive external ophthalmoplegia with mitochondrial deletions type 5 (RRM2B) Mitochondrial DNA depletion syndrome (SUCLA2) Pyruvate carboxylase deficiency (PC) Mitochondrial DNA depletion syndrome (RRM2B) Schizophrenia, CELSR2-related (CELSR2) Mitochondrial DNA depletion syndrome (C10ORF2) Sialuria, finish type (SLC17A5) Mitochondrial DNA depletion syndrome (TK2) Sjogren-Larsson syndrome (ALDH3A2) Mitochondrial DNA depletion syndrome, encephalomyopathic type with Striatal degeneration (PDE8B) methylmalonic aciduria (SUCLG1) Tourette syndrome (SLITRK1) Mitochondrial encephalomyopathy (MT-CYB) Tuberous sclerosis (TSC1) Mitochondrial encephalomyopathy (MFF) Tuberous sclerosis (TSC2) Mitochondrial neurogastrointestinal encephalopathy syndrome without , type 2D (SNAI2) leukoencephalopathy (POLG) Waardenburg syndrome/Hirschsprung disease (EDNRB) Narcolepsy (HCRT) Warburg micro syndrome type 1 (RAB3GAP1) Neurodegeneration with brain iron accumulation type 4 (C19orf12) (PEX1) Neurodegeneration with brain iron accumulation type 6 (WDR45) Zellweger syndrome (PEX2) Niemann Pick disease type C1 (NPC1) Zellweger syndrome (PEX3) Pantothenate kinase-associated neurodegeneration (PANK2) Zellweger syndrome (PEX5) Parietal foramina type 2 (ALX4) Zellweger syndrome (PEX6) Pelizaeus-Merzbacher disease (PLP1) Zellweger syndrome (PEX10) Pelizaeus-Merzbacher disease (SLC16A2) Zellweger syndrome (PEX12) Pelizeaus-Merzbacher-like disease type 1 (GJC2) Zellweger syndrome (PEX13) Periventricular heterotopia with microcephaly (ARFGEF2) Zellweger syndrome (PEX14) Peroxisome biogenesis disorder 14B (PEX11B) Zellweger syndrome (PEX16) Perrault syndrome (HSD17B4) Zellweger syndrome (PEX19) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Zellweger syndrome (PEX26) (TYROBP) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (TREM2) 2.6 - Muscular Disorders and Hereditary ALS-Forms

Alpha-B-Crystallinopathy (CRYAB) Amyotrophic lateral sclerosis type 8 (VAPB) Amyotrophic lateral sclerosis CREST related (SS18L1) Amyotrophic lateral sclerosis type 9 (ANG) Amyotrophic lateral sclerosis risk factor (CHGB) Amyotrophic lateral sclerosis VPS54 related (VPS54) Amyotrophic lateral sclerosis type 1 (SOD1) Amyotrophic lateral sclerosis with frontotemporal dementia (C9orf72) Amyotrophic lateral sclerosis type 10 (TARDBP) Amyotrophic lateral sclerosis, susceptibility to (NEFH) Amyotrophic lateral sclerosis type 11 (FIG4) Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS (UBQLN2) Amyotrophic lateral sclerosis type 12 (OPTN) Bethlem (COL6A1) Amyotrophic lateral sclerosis type 14 (VCP) (COL6A2) Amyotrophic lateral sclerosis type 16 (SIGMAR1) Bethlem myopathy (COL6A3) Amyotrophic lateral sclerosis type 17 (CHMP2B) Bethlem myopathy (COL12A1) Amyotrophic lateral sclerosis type 18 (PFN1) Brody myopathy (ATP2A1) Amyotrophic lateral sclerosis type 2 (ALS2) of muscle (RYR1) Amyotrophic lateral sclerosis type 4 (SETX) type 1 (MTMR14) Amyotrophic lateral sclerosis type 6 (FUS) Centronuclear myopathy type 3 (MYF6)

10 2.6 - Muscular Disorders and Hereditary ALS-Forms

Centronuclear myopathy type 4 (CCDC78) Myasthenia congenital with tubular aggregates 1 (GFPT1) Compton-North (CNTN1) Myasthenia limb-girdle familial (AGRN) Congenital and hypoglycosylation of a-dystroglycan (B3GALNT2) Myasthenic syndrome associated with receptor deficiency (MUSK) Creatine phosphokinase, elevated serum (CAV3) Myasthenic syndrome due to in SCN4A (SCN4A) Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2) Myasthenic syndrome fast channel congenital (CHRNA1) Emery-Dreifuss muscular dystrophy type 1 (EMD) Myasthenic syndrome fast channel congenital (CHRND) Emery-Dreifuss muscular dystrophy type 2 (LMNA) Myasthenic syndrome slow-channel congenital (CHRNA1) Emery-Dreifuss muscular dystrophy type 4 (SYNE1) Myasthenic syndrome slow-channel congenital (CHRND) Emery-Dreifuss muscular dystrophy type 5 (SYNE2) Myasthenic syndrome, congenital (CHRNE) Emery-Dreifuss muscular dystrophy type 6 (FHL1) Myasthenic syndrome, congenital (CHAT) Encephalopathy lethal, due to defective mitochondrial peroxisomal fission (DNM1L) Myasthenic syndrome, congenital (CHRNB1) Encephalopathy mitochondrial (VDAC1) Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c (RAPSN) oxidase deficiency (COX10) Myoglobinuria acute recurrent (LPIN1) Encephalopathy, familial, with neuroserpin inclusion bodies (SERPINI1) Myopathy due to Integrin 7A deficiency (ITGA7) Endplate acetylcholinesterase deficiency (COLQ) Myopathy limb girdle with fragility (MTAP) Epidermolysis bullosa simplex with muscular dystrophy (PLEC) Myopathy with fiber-type disproportion (ACTA1) Epidermolysis bullosa simplex, autosomal recessive (DST) Myopathy with fiber-type disproportion (SEPN1) Facioscapulohumeral muscular dystrophy type 1 (D4Z4) Myopathy, centronuclear (DNM2) Filaminopathy (FLNC) Myopathy, centronuclear (BIN1) Fukuyama congenital muscular dystrophy (FKTN) Myopathy, -related, associated with mutation in the CRYAB (CRYAB) Hereditary myopathy with early respiratory failure (TTN) Myopathy, distal type 1 (MYH7) Hyperkalemic (SCN4A) Myopathy, distal type 2 (MATR3) Hypokalemic periodic paralysis type 1 (CACNA1S) Myopathy, distal type 4 (FLNC) Inclusion body myopathy (GNE) Myopathy, distal with anterior tibial onset (DYSF) Limb-girdle muscular dystrophy, autosomal dominant type 1A (MYOT) Myopathy, distal with decreased Caveolin 3 (CAV3) Limb-girdle muscular dystrophy, autosomal dominant type 1B (LMNA) Myopathy, early-onset with fatal cardiomyopathy (TTN) Limb-girdle muscular dystrophy, autosomal dominant type 1C (CAV3) Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and Limb-girdle muscular dystrophy, autosomal dominant type 1E (DNAJB6) developmental delay (GFER) Limb-girdle muscular dystrophy, autosomal recessice type 2F (SGCD) Myopathy, myofibrillar 6 (BAG3) Limb-girdle muscular dystrophy, autosomal recessive type 2A (CAPN3) Myopathy, myofibrillar, Desmin-related (DES) Limb-girdle muscular dystrophy, autosomal recessive type 2B (DYSF) Myopathy, myofibrillar, ZASP-related (LDB3) Limb-girdle muscular dystrophy, autosomal recessive type 2C (SGCG) Myosclerosis, autosomal recessive (COL6A2) Limb-girdle muscular dystrophy, autosomal recessive type 2D (SGCA) storage myopathy (MYH7) Limb-girdle muscular dystrophy, autosomal recessive type 2E (SGCB) Myotilinopathy (MYOT) Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G (TCAP) congenita (CLCN1) Limb-girdle muscular dystrophy, autosomal recessive type 2H (TRIM32) Myotonic dystrophy type 1 (DMPK) Limb-girdle muscular dystrophy, autosomal recessive type 2I (FKRP) Myotonic dystrophy type 2 (CNBP) Limb-Girdle Muscular Dystrophy, autosomal recessive type 2J (TTN) Myotubular myopathy X-linked (MTM1) Limb-girdle muscular dystrophy, autosomal recessive type 2K (POMT1) type 1 (TPM3) Limb-girdle muscular dystrophy, autosomal recessive type 2L (ANO5) Nemaline myopathy type 3 (ACTA1) Limb-girdle muscular dystrophy, autosomal recessive type 2M (FKTN) Nemaline myopathy type 4 (TPM2) Limb-girdle muscular dystrophy, autosomal recessive type 2N (POMT1) Nemaline myopathy type 5 (TNNT1) (RYR1) Nemaline myopathy type 6 (KBTBD13) Malignant hyperthermia type 5 (CACNA1S) Nemaline myopathy type 7 (CFL2) Minicore myopathy with external ophthalmoplegia (RYR1) Neurogenic scapuloperoneal syndrome, Kaeser type (DES) Mitochondrial DNA depletion syndrome (DGUOK) and axonal neuropathy, autosomal recessive (HINT1) Mitochondrial DNA depletion syndrome (TK2) Neutral lipid storage disease with myopathy (PNPLA2) Miyoshi myopathy (DYSF) Nonaka myopathy (GNE) Muscle hypertrophy (MSTN) of von Eulenburg (SCN4A) Muscular dystrophy type 1A (LAMA2) Pompe disease (GAA) Muscular dystrophy type 1C (FKRP) Potassium-aggravated myotonia (SCN4A) Muscular dystrophy type 1D (LARGE) Progressive external ophthalmoplegia with mitochondrial deletions type 5 (RRM2B) Muscular dystrophy, Becker type (DMD) Rigid spine muscular dystrophy (SEPN1) Muscular dystrophy, Duchenne type (DMD) Rippling muscle disease (CAV3) Muscular dystrophy, limb-girdle type 2A (CAPN3) Scapuloperoneal myopathy, MYH7 related (MYH7) Muscular dystrophy, oculopharyngeal (PABPN1) Schwartz-Jampel syndrome (HSPG2) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Spheroid body myopathy (MYOT) type A (POMGNT1) (SMA) (SMN1) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C (DAG1) Spinal muscular atrophy (SMA), NAIP related (NAIP)

11 2.6 - Muscular Disorders and Hereditary ALS-Forms

Spinal muscular atrophy (SMA), type III (SMN2) Ullrich congenital muscular dystrophy (COL6A1) Spinal muscular atrophy, distal, X-linked (ATP7A) Ullrich congenital muscular dystrophy (COL6A2) Spinal muscular atrophy, lower extremity, autosomal dominant, type 1 (DYNC1H1) Ullrich congenital muscular dystrophy (COL6A3) Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 (BICD2) Walker-Warburg syndrome (FKRP) Thyrotoxic periodic paralysis type 1 (CACNA1S) Walker-Warburg syndrome (FKTN) Thyrotoxic periodic paralysis type 2 (KCNJ18) Walker-Warburg syndrome (ISPD) Tibial muscular dystrophy, tardive (LDB3) Walker-Warburg syndrome (POMT2) Tibial muscular dystrophy, tardive (TTN) 2.7 - Dementias

Alzheimer disease type 1 (APP) Dementia, frontotemporal (PSEN1) Alzheimer disease type 3 (PSEN1) Fatal familial imsomnia (PRNP) Alzheimer disease type 4 (PSEN2) Gerstmann-Straussler disease (PRNP) Alzheimers disease, early onset, autosomal dominant (SORL1) Hippocampal longterm potentiation - RFN39 gene related (RNF39) Angelman syndrome (UBE3A) Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease Angelman syndrome (chr. 15q11) (SOX10) Cerebral amyloid angiopathy (CST3) Pick disease (PSEN1) Creutzfeldt-Jakob disease (PRNP) Prader-Willi syndrome (NDN) Dementia, frontotemporal (GRN) Prader-Willi syndrome (SNRPN) Dementia, frontotemporal (MAPT) Prader-Willi syndrome (chr. 15q11) Dementia, frontotemporal (TARDBP) Silver-Russell syndrome (chr. 11p15) Silver-Russell syndrome (IGF2) 2.8 - Epilepsies

Amish infantile epilepsy syndrome (ST3GAL5) Epilepsy, idiopathic generalized type 11 (CLCN2) Autosomal dominant lateral temporal lobe epilepsy (LGI1) Epilepsy, idiopathic generalized type 12 (SLC2A1) Autosomal dominant nocturnal type 1 (CHRNA4) Epilepsy, juvenile absence type 1 (EFHC1) Autosomal dominant nocturnal frontal lobe epilepsy type 4 (CHRNA2) Epilepsy, nocturnal frontal lobe (KCNT1) Benign familial neonatal (KCNQ2) Epilepsy, nocturnal frontal lobe type 1 (CHRNA4) Convulsions, benign familial infantile, 3 (SCN2A) Epilepsy, nocturnal frontal lobe type 3 (CHRNB2) Cortical dysplasia-focal epilepsy syndrome (CNTNAP2) Epilepsy, nocturnal frontal lobe type 4 (CHRNA2) Dravet syndrome (GABRG2) Epilepsy, progressive myoclonic 4, with or without renal failure (SCARB2) Dravet syndrome (SCN2A) Epilepsy, X-linked, with learning disabilities and behavior disorders (SYN1) Dravet syndrome (SCN9A) Epileptic encephalopathy (MAGI2) Early infantile epileptic encephalopathy type 1 (ARX) Epileptic encephalopathy, early infantile type 1 (ARX) Early infantile epileptic encephalopathy type 10 (PNKP) Epileptic encephalopathy, early infantile type 2 (CDKL5) Early infantile epileptic encephalopathy type 11 (SCN2A) Epileptic encephalopathy, early infantile type 8 (ARHGEF9) Early infantile epileptic encephalopathy type 12 (PLCB1) Epileptic encephalopathy, early infantile type 9 (PCDH19) Early infantile epileptic encephalopathy type 13 (SCN8A) Familial infantile myoclonic epilepsy (TBC1D24) Early infantile epileptic encephalopathy type 2 (CDKL5) Generalized epilepsy and paroxysmal dyskinesia (KCNMA1) Early infantile epileptic encephalopathy type 3 (SLC25A22) Generalized epilepsy with febrile seizures plus type 1 (SCN1B) Early infantile epileptic encephalopathy type 4 (STXBP1) Generalized epilepsy with febrile seizures plus type 2 (SCN1A) Early infantile epileptic encephalopathy type 5 (SPTAN1) Generalized epilepsy with febrile seizures plus type 3 (GABRG2) Early infantile epileptic encephalopathy type 6 (SCN1A) Generalized epilepsy with febrile seizures plus type 5 (GABRD) Early infantile epileptic encephalopathy type 7 (KCNQ2) Generalized epilepsy with febrile seizures plus type 7 (SCN9A) Early infantile epileptic encephalopathy type 9 (PCDH19) GLUT1 deficiency syndrome type 1 (SLC2A1) Epilepsy with neurodevelopmental defects (GRIN2A) Hyperekplexia (GLRA1) Epilepsy, benign neonatal (KCNQ3) Hyperekplexia (GLRB) Epilepsy, childhood absence type 2 (GABRG2) Hyperekplexia (SLC6A5) Epilepsy, childhood absence type 4 (GABRA1) Hyperekplexia (GPHN) Epilepsy, childhood absence type 5 (GABRB3) Hyperekplexia (ARHGEF9) Epilepsy, childhood absence type 6 (CACNA1H) Kohlschutter Tonz syndrome (ROGDI) Epilepsy, childhood absence, JRK related (JRK) Myoclonic epilepsy of Lafora (EPM2A) Epilepsy, familial focal with variable foci (DEPDC5) Myoclonic epilepsy of Lafora (NHLRC1) Epilepsy, familial temporal lobe type 5 (CPA6) Paroxysmal exercise-induced dyskinesia with epilepsy and/orhemolytic anemia (SLC2A1) Epilepsy, idiopathic generalized type 10 (GABRD) bilateral occipital (NR2E1)

12 2.8 - Epilepsies

Progressive epilepsy type 1A (PRICKLE1) SESAME syndrome (KCNJ10) Progressive myoclonus epilepsy type 3 (KCTD7) Unverricht-Lundborg disease (CSTB) Pyridoxine-dependent epilepsy (ALDH7A1) 2.9 - Mitochondrial Disorders

Mitochondrial complex I deficiency (NDUFB3) Progressive external ophthalmoplegia with mitochondrial deletions type 2 (SLC25A4) Mitochondrial DNA depletion syndrome type 6 (MPV17) Progressive external ophthalmoplegia with mitochondrial deletions type 3 (C10ORF2) Mitochondrial neurogastrointestinal encephalopathy syndrome without Progressive external ophthalmoplegia with mitochondrial deletions type 5 (RRM2B) leukoencephalopathy (TYMP) Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type Mitochondrial respiratory chain disease, TIMM21-related (TIMM21) (SLC25A19) 2.10 - Mental Retardation and Neurodevelopmental Disorders

Adrenoleukodystrophy/Adrenomyeloneuropathy (ABCD1) Mental retardation (ATP8A2) Allan-Herndon-Dudley syndrome (SLC16A2) Mental retardation and microcephaly with pontine and cerebellar hypoplasia (CASK) Angelman-like syndrome (MECP2) Mental retardation non-syndromic (ELK1) Angelman-like syndrome (CDKL5) Mental retardation non-syndromic (KLF8) Arts syndrome (PRPS1) Mental retardation non-syndromic (NXF5) Attention deficit-hyperactivity disorder (DRD4) Mental retardation non-syndromic (ZCCHC12) Attention deficit-hyperactivity disorder (DRD5) Mental retardation with hypotonic facies syndrome, X-linked (ATRX) spectrum disorder (EN2) Mental retardation X-linked, syndromic, Claes-Jensen type (KDM5C) Autism susceptibility, X-linked type 1 (NLGN3) Mental retardation X-linked, syndromic, Lubs type (MECP2) Autism susceptibility, x-linked type 17 (SHANK2) Mental retardation X-linked, Turner type (HUWE1) Autism susceptibility, X-linked type 2 (NLGN4X) Mental retardation, autosomal dominant type 12 (ARID1B) Autism susceptibility, X-linked type 3 (MECP2) Mental retardation, autosomal dominant type 13 (TRAPPC9) Autism susceptibility, X-linked type 5 (RPL10) Mental retardation, autosomal dominant type 14 (ARID1A) Autism, MBD1-related (MBD1) Mental retardation, autosomal dominant type 15 (SMARCB1) Autism, OR13H1-related (OR13H1) Mental retardation, autosomal dominant type 16 (SMARCA4) Borjeson-Forssman-Lehmann syndrome (PHF6) Mental retardation, autosomal dominant type 18 (MED23) (MAOA) Mental retardation, autosomal dominant type 2 (DOCK8) CHILD syndrome (NSDHL) Mental retardation, autosomal dominant type 20 (MEF2C) CK syndrome (NSDHL) Mental retardation, autosomal dominant type 5 (SYNGAP1) Coffin-Lowry syndrome (RPS6KA3) Mental retardation, autosomal dominant type 6 (GRIN2B) Cortical dysplasia with other brain malformations, type 5 (TUBB2A) Mental retardation, autosomal dominant type 9 (KIF1A) Creatine deficiency syndrome X-linked (SLC6A8) Mental retardation, autosomal recessive type 3 (CC2D1A) (LAMP2) Mental retardation, autosomal recessive type 39 (TTI2) Dent disease type 2 (OCRL) Mental retardation, autosomal recessive type 5 (NSUN2) Dyslexia (PCDH11X) Mental retardation, X-linked (RAB40AL) FG syndrome type 1 (MED12) Mental retardation, X-linked syndromic, Christianson type (SLC9A6) FG syndrome type 2 (FLNA) Mental retardation, X-linked syndromic, Nascimento-type (UBE2A) FG syndrome type 4 (CASK) Mental retardation, X-linked syndromic, Raymond type (ZDHHC9) Fragile X tremor/ataxia syndrome (FMR1) Mental retardation, X-Linked type 13 (MECP2) Frontometaphyseal dysplasia (FLNA) Mental retardation, X-linked type 14 (UPF3B) Heterotopia, periventricular, ED variant (FLNA) Mental retardation, X-linked type 15 (CUL4B) Heterotopia, periventricular, X-linked dominant (FLNA) Mental retardation, X-linked type 16 (FGD1) Hoyeraal-Hreidarsson syndrome (DKC1) Mental retardation, X-linked type 17 (HSD17B10) nonsyndromic (CUX2) Mental retardation, X-linked type 19 (RPS6KA3) Intestinal pseudoobstraction, neuronal (FLNA) Mental retardation, X-linked type 21 (IL1RAPL1) Jensen syndrome (TIMM8A) Mental retardation, X-linked type 29 (ARX) type 2 (KDM6A) Mental retardation, X-linked type 30 (PAK3) Leigh syndrome, X-linked (PDHA1) Mental retardation, X-linked type 32 (CLIC2) Lesch-Nyham syndrome (HPRT1) Mental retardation, X-linked type 41 (GDI1) Lissencephaly/Subcortical laminal heteropia, X-linked (DCX) Mental retardation, X-linked type 44 (FTSJ1) Lowe oculocerebrorenal syndrome (OCRL) Mental retardation, X-linked type 45 (ZNF81) Major affective disorder (CUTL2) Mental retardation, X-linked type 46 (ARHGEF6) MASA syndrome (L1CAM) Mental retardation, X-linked type 58 (TSPAN7) Melnick-Needles syndrome (FLNA) Mental retardation, X-linked type 59 (AP1S2)

13 2.10 - Mental Retardation and Neurodevelopmental Disorders

Mental retardation, X-linked type 63 (ACSL4) Neurodevelopmental disorder, TUBB-related (TUBB) Mental retardation, X-linked type 72 (RAB39B) Neurodevelopmental disorder, ZNF311-related (ZNF311) Mental retardation, X-linked type 88 (AGTR2) Neurodevelopmental malformation and microcephaly (DYNC1H1) Mental retardation, X-linked type 89 (ZNF41) Neurodevelopmental malformation and microcephaly (TUBG1) Mental retardation, X-linked type 90 (DLG3) Neurodevelopmental malformation and microcephaly (KIF2A) Mental retardation, X-linked type 91 (ZDHHC15) Neurodevelopmental malformation and microcephaly (KIF5C) Mental retardation, X-linked type 92 (ZNF674) Neuronal migration disorder (EOMES) Mental retardation, X-linked type 93 (BRWD3) Neuronal migration disorder (SRGAP2) Mental retardation, X-linked type 94 (GRIA3) Neuronal migration disorder (SPTBN5) Mental retardation, X-linked type 95 (MAGT1) (NDP) Mental retardation, X-linked type 96 (SYP) (ATP7A) Mental retardation, X-linked type 97 (ZNF711) Opitz G syndrome (MID1) Mental retardation, X-linked with epilepsy (ATP6AP2) Oral-facial-digital syndrome type 1 (OFD1) Mental retardation, X-linked, associated with fragile site FRAXE (AFF2) Partington syndrome (ARX) Mental retardation, X-linked, nonsyndromic (KIAA2022) Phosphoglycerate kinase 1 deficiency (PGK1) Mental retardation, X-linked, Siderius type (PHF8) Proud syndrome (ARX) Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial Psychomotor retardation (TANC1) appearance (OPHN1) Renpenning syndrome (PQBP1) Mental retardation, X-linked, with isolated growth hormone deficiency (SOX3) preserved speech variant (MECP2) Microcephaly-capillary malformation syndrome (STAMBP) Rolandic epilepsy, mental retardation, and speech dyspraxia (SRPX2) Mitochondrial complex I deficiency (NDUFA1) Simpson-Golabi-Behmel syndrome type 1 (GPC3) Mitochondrial complex I deficiency (NDUFB3) Smith-Magenis syndrome (RAI1) Neurodevelopmental disorder, ADAM22-related (ADAM22) Stocco dos Santos X-linked mental retardation syndrome (SHROOM4) Neurodevelopmental disorder, APC2-related (APC2) Williams-Beuren syndrome (FZD9) Neurodevelopmental disorder, CNTNAP4-related (CNTNAP4) Neurodevelopmental disorder, MACF1-related (MACF1) 3 - Ophthalmological Diseases

Achromatopsia type 2 (CNGA3) Cataract, autosomal recessive type 38 (AGK) Achromatopsia type 3 (CNGB3) Cataract, congenital, associated with Marinesco-Sjogren Syndrome (SIL1) Achromatopsia type 4 (GNAT2) Cataract, cortical pulverulent, late-onset (LIM2) Achromatopsia type 6 (PDE6H) Cataract, lamellar (HSF4) Aland Island eye disease (CACNA1F) Cataract, posterior polar type 2 (CRYAB) Albinism, ocular type I, Nettleship-Falls type (GPR143) Cataract, type 23 (CRYBA4) Albinism, oculocutaneous nonsyndromic (SLC24A5) Cataract, X-linked (NHS) Albinism, oculocutaneous type 1A (TYR) Cataract-microcornea syndrome (GJA8) Albinism, oculocutaneous type 1B (TYR) Choroidal dystrophy, central areolar type 2 (PRPH2) Albinism, oculocutaneous type 3 (TYRP1) (CHM) Albinism, oculocutaneous type 4 (SLC45A2) Coat plus syndrome (CTC1) Albinism, oculocutaneous type 5 (C10ORF11) Colobomatous (TENM1) Alstrom syndrome (ALMS1) Cone-rod dystrophy (UNC119) Aniridia (PAX6) Cone-rod dystrophy (AIPL1) Bestrophinopathy (BEST1) Cone-rod dystrophy type 11 (RAX2) Blepharophimosis, epicanthus inversus, and ptosis (FOXL2) Cone-rod dystrophy type 12 (PROM1) Blepharophimosis-ptosis-intellectual disability syndrome (UBE3B) Cone-rod dystrophy type 13 (RPGRIP1) Bothnia retinal dystrophy (RLBP1) Cone-rod dystrophy type 14 (GUCA1A) Bradyopsia (RGS9) Cone-rod dystrophy type 15 (CDHR1) Bradyopsia (RGS9BP) Cone-rod dystrophy type 2 (CRX) Branchiootorenal syndrome type 1 (EYA1) Cone-rod dystrophy type 3 (ABCA4) Branchiootorenal syndrome type 2 (SIX5) Cone-rod dystrophy type 4 (PDE6C) Brittle cornea syndrome (ZNF469) Cone-rod dystrophy type 5 (PITPNM3) Cataract, autosomal dominant (GCNT2) Cone-rod dystrophy type 7 (RIMS1) Cataract, autosomal recessive congenital nuclear type 2 (CRYBB3) Cone-rod dystrophy type 9 (ADAM9) Cataract, autosomal recessive congenital nuclear type 3 (CRYBB1) Cone-rod dystrophy, X-linked type 3 (CACNA1F) Cataract, autosomal recessive congenital type 1 (CRYAA) Corneal dystrophy, epithelial basement membrane (TGFB1) Cataract, autosomal recessive congenital type 2 (FYCO1) Corneal endothelial dystrophy 2 (SLC4A11) Cataract, autosomal recessive congenital type 4 (TDRD7) Doyne honeycob retinal dystrophy (EFEMP1)

14 3 - Ophthalmological Diseases

Duane Retraction syndrome (CHN1) Megalocornea, X-linked (CHRDL1) Duane Retraction syndrome (SALL4) Microphthalmia syndromic type 2 (BCOR) Dyschromatosis symmetrica hereditaria (ADAR) Microphthalmia syndromic type 3 (SOX2) Exudative vitreoretinopathy (FZD4) Microphthalmia syndromic type 4 (OTX2) Exudative vitreoretinopathy type 2 (NDP) Microphthalmia syndromic type 6 (BMP4) Exudative vitreoretinopathy type 5 (TSPAN12) Microphthalmia syndromic type 6 (SIX6) Fibrosis of extraocular muscles, congenital type 1 (KIF21A) Microphthalmia syndromic type 7 (HCCS) Fibrosis of extraocular muscles, congenital type 3a (TUBB3) Microphthalmia syndromic type 8 (ALDH1A3) Fleck , familial benign (PLA2G5) Microphthalmia syndromic type 9 (STRA6) Fundus albipunctatus (RDH5) Microphthalmia, isolated type 2 (VSX2) Fundus albipunctatus (PRPH2) Microphthalmia, isolated type 3 (RAX) Fundus flavimaculatus (ABCA4) Microphthalmia, isolated type 4 (GDF6) Fundus flavimaculatus (PRPH2) Microphthalmia, isolated type 9 (GDF3) Glaucoma, open angle type 1A (MYOC) Microphthalmia, isolated with coloboma type 3 (VSX2) Glaucoma, open angle type 1E (OPTN) Microphthalmia, isolated with coloboma type 6 (GDF3) Glaucoma, open angle type 1G (WDR36) Microspherophakia and/or megalocornea (LTBP2) Glaucoma, primary type 3A (CYP1B1) Night blindness, congenital stationar type 1B (GRM6) Glaucoma, primary type 3D (LTBP2) Night blindness, congenital stationar type 1C (TRPM1) Gyrate atrophy of choroid and retina with or without ornithinemia (OAT) Night blindness, congenital stationary type 1A (NYX) Hermansky Pudlak syndrome type 4 (HPS4) Night blindness, congenital stationary type 2A (CACNA1F) Hermansky-Pudlak syndrome type 1 (HPS1) Night blindness, congenital stationary type 2B (CABP4) Hermansky-Pudlak syndrome type 2 (AP3B1) Night blindness, congenital stationary type 3 (GNAT1) Hermansky-Pudlak syndrome type 3 (HPS3) Night blindness, congenital stationary, autosomal dominant type 2 (PDE6B) Hermansky-Pudlak syndrome type 5 (HPS5) Night blindness, congenital stationary, type 1E (GPR179) Hermansky-Pudlak syndrome type 6 (HPS6) Nonarteritic anterior ischemic optic neuropathy (GP1BA) Hermansky-Pudlak syndrome type 7 (DTNBP1) type 1 (FRMD7) Hermansky-Pudlak syndrome type 8 (BLOC1S3) Nystagmus type 6 (GPR143) Hyperferritinemia-cataract syndrome (FTL) Occult macular dystrophy (RP1L1) Iridogoniodysgenesis, type 1 (FOXC1) Oguchi disease (SAG) Jalili syndrome (CNNM4) Oguchi disease (GRK1) Knobloch syndrome type 1 (COL18A1) Optic atrophy (TMEM126A) Leber congenital amaurosis type 1 (GUCY2D) Optic atrophy type 1 (OPA1) Leber congenital amaurosis type 11 (IMPDH1) Optic atrophy type 3 (OPA3) Leber congenital amaurosis type 12 (RD3) Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and Leber congenital amaurosis type 16 (KCNJ13) neuropathy (OPA1) Leber congenital amaurosis type 17 (GDF6) Patterned dystrophy of retinal pigment epithelium (PRPH2) Leber congenital amaurosis type 3 (SPATA7) Peters Anomaly (CYP1B1) Leber congenital amaurosis type 5 (LCA5) Peters-Plus syndrome (B3GALTL) Leber congenital amaurosis type 6 (RPGRIP1) Progressive external ophthalmoplegia with mitochondrial deletions type 1 (POLG) Leber congenital amaurosis type 7 (CRX) Progressive external ophthalmoplegia with mitochondrial deletions type 3 (C10ORF2) Leber congenital amaurosis type 9 (NMNAT1) Progressive external ophthalmoplegia with mitochondrial deletions type 4 (POLG2) Leber congenital amaurosis with myopathy (DTHD1) Progressive external ophthalmoplegia with mitochondrial deletions, autosomal recessive Leber congenital neuropathy (MT-CYB) (POLG) Leber optic atrophy (MT-CO1) Retinal cone dystrophy type 3B (KCNV2) Leber optic atrophy (MT-CO3) Retinal cone dystrophy type 4 (CACNA2D4) Leber optic atrophy (MT-ND1) Retinal degeneration, late-onset, autosomal dominant (C1QTNF5) Leber optic atrophy (MT-ND2) Retinal dystrophy, early-onset severe (ABCA4) Leber optic atrophy (MT-ND4) Retinal nonattachment nonsyndromic congenital (ATOH7) Leber optic atrophy (MT-ND4L) Retinitis pigmentosa juvenile (LRAT) Leber optic atrophy (MT-ND5) Retinitis pigmentosa type 1, autosomal dominant (RP1) Leber optic atrophy (MT-ND6) Retinitis pigmentosa type 10, autosomal dominant (IMPDH1) Leber optic atrophy (MT-ATP6) Retinitis pigmentosa type 11, autosomal dominant (PRPF31) Macular degeneration, age-related type 11 (CST3) Retinitis pigmentosa type 12, autosomal recessive (CRB1) Macular degeneration, age-related type 6 (RAX2) Retinitis pigmentosa type 13, autosomal dominant (PRPF8) Macular dystrophy retinal type 2 (PROM1) Retinitis pigmentosa type 14, autosomal recessive (TULP1) Macular dystrophy, vitelliform (BEST1) Retinitis pigmentosa type 17, autosomal dominant (CA4) Macular dystrophy, vitelliform (PRPH2) Retinitis pigmentosa type 18, autosomal dominant (PRPF3) Mainzer Saldino syndrome (IFT140) Retinitis pigmentosa type 19, autosomal dominant (ABCA4) Retinitis pigmentosa type 19, autosomal recessive (ABCA4) Retinitis pigmentosa type 2 X-linked (RP2)

15 3 - Ophthalmological Diseases

Retinitis pigmentosa type 20, autosomal recessive (RPE65) Retinitis pigmentosa type 64, autosomal recessive (C8ORF37) Retinitis pigmentosa type 23 X-linked (OFD1) Retinitis pigmentosa type 66, autosomal recessive (RBP3) Retinitis pigmentosa type 25, autosomal recessive (EYS) Retinitis pigmentosa type 7 (ROM1) Retinitis pigmentosa type 26, autosomal recessive (CERKL) Retinitis pigmentosa type 7, autosomal dominant (PRPH2) Retinitis pigmentosa type 27, autosomal dominant (NRL) Retinitis pigmentosa type 9, autosomal dominant (RP9) Retinitis pigmentosa type 28, autosomal recessive (FAM161A) Retinitis pigmentosa, juvenile, autosomal recessive (SPATA7) Retinitis pigmentosa type 3 X-linked (RPGR) Retinoblastoma (RB1) Retinitis pigmentosa type 30, autosomal dominant (FSCN2) Retinoschisis (RS1) Retinitis pigmentosa type 31, autosomal dominant (TOPORS) Revesz syndrome (TINF2) Retinitis pigmentosa type 33, autosomal dominant (SNRNP200) Rieger syndrome (FOXC1) Retinitis pigmentosa type 35, autosomal dominant/recessive (SEMA4A) Rieger syndrome (PITX2) Retinitis pigmentosa type 36, autosomal recessive (PRCD) Rieger syndrome (CYP1B1) Retinitis pigmentosa type 37, autosomal dominant/recessive (NR2E3) Rieger syndrome (PAX6) Retinitis pigmentosa type 38, autosomal recessive (MERTK) Senior-Loken syndrome type 5 (IQCB1) Retinitis pigmentosa type 39, autosomal recessive (USH2A) Sorsby fundus dystrophy (TIMP3) Retinitis pigmentosa type 4, autosomal dominant/recessive (RHO) type 1 (ABCA4) Retinitis pigmentosa type 40, autosomal recessive (PDE6B) Stargardt Disease type 1 (CNGB3) Retinitis pigmentosa type 41, autosomal recessive (PROM1) Stargardt Disease type 3 (ELOVL4) Retinitis pigmentosa type 42, autosomal dominant (KLHL7) Stargardt Disease type 4 (PROM1) Retinitis pigmentosa type 43, autosomal recessive (PDE6A) Stickler syndrome type 1 (COL2A1) Retinitis pigmentosa type 44, autosomal dominant/recessive (RGR) Stickler syndrome type 2 (COL11A1) Retinitis pigmentosa type 45, autosomal recessive (CNGB1) Stickler syndrome type 3 (COL11A2) Retinitis pigmentosa type 46, autosomal recessive (IDH3B) Stickler syndrome, autosomal recessive (COL9A1) Retinitis pigmentosa type 47, autosomal recessive (SAG) Stickler syndrome, type 5 (COL9A2) Retinitis pigmentosa type 48, autosomal dominant (GUCA1B) type 1D/F (PCDH15) Retinitis pigmentosa type 49, autosomal recessive (CNGA1) Usher syndrome type 1D/F (CDH23) Retinitis pigmentosa type 50, autosomal dominant (BEST1) Usher syndrome type 3A (CLRN1) Retinitis pigmentosa type 51, autosomal recessive (TTC8) Usher syndrome type IJ (CIB2) Retinitis pigmentosa type 53, autosomal recessive (RDH12) Vitreoretinochoroidopathy (BEST1) Retinitis pigmentosa type 54, autosomal recessive (C2ORF71) Waardenburg syndrome/albinism (TYR) Retinitis pigmentosa type 55, autosomal recessive (ARL6) Waardenburg syndrome/albinism (MITF) Retinitis pigmentosa type 56, autosomal recessive (IMPG2) Wagner syndrome (VCAN) Retinitis pigmentosa type 57, autosomal recessive (PDE6G) Warburg micro syndrome 3 (RAB18) Retinitis pigmentosa type 58, autosomal recessive (ZNF513) Warburg micro syndrome type 1 (RAB3GAP1) Retinitis pigmentosa type 59, autosomal recessive (DHDDS) Weill-Marchesani syndrome - AD (FBN1) Retinitis pigmentosa type 60 (PRPF6) Weill-Marchesani syndrome - AR (ADAMTS10) Retinitis pigmentosa type 61, autosomal recessive (CLRN1) Wolfram syndrome type 1 (WFS1) Retinitis pigmentosa type 62, autosomal recessive (MAK) Wolfram syndrome type 1 (CISD2) 4 - Ear, Nose and Throat Diseases

4.1 - Deafness, Nonsyndromic Sensorineural, Autosomal Recessive

Deafness, autosomal recessive (SYNE4) Deafness, autosomal recessive type 29 (CLDN14) Deafness, autosomal recessive (SUN1) Deafness, autosomal recessive type 3 (MYO15A) Deafness, autosomal recessive (GJB3) Deafness, autosomal recessive type 30 (MYO3A) Deafness, autosomal recessive type 15 (GIPC3) Deafness, autosomal recessive type 31 (DFNB31) Deafness, autosomal recessive type 16 (STRC) Deafness, autosomal recessive type 35 (ESRRB) Deafness, autosomal recessive type 18 (USH1C) Deafness, autosomal recessive type 36 (ESPN) Deafness, autosomal recessive type 1A (GJB2) Deafness, autosomal recessive type 39 (HGF) Deafness, autosomal recessive type 1B (GJB6) Deafness, autosomal recessive type 42 (ILDR1) Deafness, autosomal recessive type 2 (MYO7A) Deafness, autosomal recessive type 48 (CIB2) Deafness, autosomal recessive type 22 (OTOA) Deafness, autosomal recessive type 49 (MARVELD2) Deafness, autosomal recessive type 23 (PCDH15) Deafness, autosomal recessive type 53 (COL11A2) Deafness, autosomal recessive type 24 (RDX) Deafness, autosomal recessive type 59 (DFNB59) Deafness, autosomal recessive type 25 (GRXCR1) Deafness, autosomal recessive type 6 (TMIE) Deafness, autosomal recessive type 28 (TRIOBP) Deafness, autosomal recessive type 61 (SLC26A5)

16 4.1 - Deafness, Nonsyndromic Sensorineural, Autosomal Recessive

Deafness, autosomal recessive type 63 (LRTOMT) Deafness, autosomal recessive type 79 (TPRN) Deafness, autosomal recessive type 67 (LHFPL5) Deafness, autosomal recessive type 8/10 (TMPRSS3) Deafness, autosomal recessive type 7 (TMC1) Deafness, autosomal recessive type 84 (PTPRQ) Deafness, autosomal recessive type 74 (MSRB3) Deafness, autosomal recessive type 9 (OTOF) Deafness, autosomal recessive type 77 (LOXHD1) Deafness, autosomal recessive type 91 (SERPINB6) 4.2 - Deafness, Nonsyndromic Sensorineural, Autosomal Dominant

Deafness with keratopachydermia and constrictions of fingers and toes (GJB2) Deafness, autosomal dominant type 36 (DSPP) Deafness, autosomal dominant type 1 (DIAPH1) Deafness, autosomal dominant type 3A (GJB2) Deafness, autosomal dominant type 10 (EYA4) Deafness, autosomal dominant type 3B (GJB6) Deafness, autosomal dominant type 11 (MYO7A) Deafness, autosomal dominant type 4 (MYH14) Deafness, autosomal dominant type 12 (TECTA) Deafness, autosomal dominant type 40 (CRYM) Deafness, autosomal dominant type 13 (COL11A2) Deafness, autosomal dominant type 44 (CCDC50) Deafness, autosomal dominant type 15 (POU4F3) Deafness, autosomal dominant type 48 (MYO1A) Deafness, autosomal dominant type 17 (MYH9) Deafness, autosomal dominant type 5 (DFNA5) Deafness, autosomal dominant type 20 (ACTG1) Deafness, autosomal dominant type 50 (MIR96) Deafness, autosomal dominant type 22 (MYO6) Deafness, autosomal dominant type 52 (POU4F3) Deafness, autosomal dominant type 23 (SIX1) Deafness, autosomal dominant type 6 (WFS1) Deafness, autosomal dominant type 25 (SLC17A8) Deafness, autosomal dominant type 64 (DIABLO) Deafness, autosomal dominant type 28 (GRHL2) Deafness, autosomal dominant type 9 (COCH) Deafness, autosomal dominant type 2A (KCNQ4) Keratitis ichthyosis deafness syndrome autosomal dominant (GJB2) Deafness, autosomal dominant type 2B (GJB3) , palmoplantar, with deafness (GJB2) Deafness, autosomal dominant type 36 (TMC1) Knuckle pads and leukonychia sensorineural deafness (GJB2) 4.3 - Deafness, Nonsyndromic Sensorineural, X-linked

Deafness, X-linked type 1 (PRPS1) Deafness, X-linked type 4 (SMPX) Deafness, X-linked type 2 (POU3F4) 4.4 - Others

Alport syndrome, autosomal recessive (COL4A3) Primary ciliary dyskinesia type 12 (RSPH9) , autosomal recessive (COL4A4) Primary ciliary dyskinesia type 13 (DNAAF1) Alport syndrome, X-Linked (COL4A5) Primary ciliary dyskinesia type 14 (CCDC39) Auditory neuropathy, autosomal dominant (DIAPH3) Primary ciliary dyskinesia type 15 (CCDC40) Auriculocondylar syndrome type 1 (GNA13) Primary ciliary dyskinesia type 16 (DNAL1) Auriculocondylar syndrome type 2 (PLCB4) Primary ciliary dyskinesia type 17 (CCDC103) Brown-Vialetto-Van Laere syndrome 1 (SLC52A3) Primary ciliary dyskinesia type 18 (HEATR2) Ciliogenesis related disorder (PTPN23) Primary ciliary dyskinesia type 19 (LRRC6) Deafenss nonsyndromic sensorineural mitochondrial (MT-RNR1) Primary ciliary dyskinesia type 2 (DNAAF3) Fazio-Londe disease (SLC52A3) Primary ciliary dyskinesia type 20 (CCDC114) Hearing loss, MAP1A-related (MAP1A) Primary ciliary dyskinesia type 3 (DNAH5) Mitochondrial modifier of deafness (TRMU) Primary ciliary dyskinesia type 5 (HYDIN) Opticoacoustic nerve atrophy with dementia (TIMM8A) Primary ciliary dyskinesia type 6 (NME8) Otopaladigital syndrome type 1 (FLNA) Primary ciliary dyskinesia type 7 (DNAH11) Otopaladigital syndrome type 2 (FLNA) Primary ciliary dyskinesia type 9 (DNAI2) (SLC26A4) Progressive hearing loss (P2RX2) Primary ciliary dyskinesia (DNAH9) Tietz albinism-deafness syndrome (MITF) Primary ciliary dyskinesia type 1 (DNAI1) Wolfram syndrome type 1 (WFS1) Primary ciliary dyskinesia type 11 (RSPH4A) Wolfram syndrome type 2 (CISD2) 5 - Bone, Skin and Immune Diseases

3MC1 syndrome (MASP1) Acne inversa familial type 3 (PSEN1) 3MC2 syndrome (COLEC11) Acrodermatitis enteropathica (SLC39A4) , type IA (TRIP11) Acrodysostosis 2 (PDE4D) Achondrogenesis, type IB (SLC26A2) Acrofacial dysostosis 1, Nager type (SF3B4) Achondroplasia (FGFR3)

17 5 - Bone, Skin and Immune Diseases

Adams-Oliver syndrome type 1 (ARHGAP31) Craniofacial-skeletal-dermatologic dysplasia (FGFR2) Adams-Oliver syndrome type 2 (DOCK6) Crouzon syndrome with acanthosis nigricans (FGFR3) Adams-Oliver syndrome type 3 (RBPJ) Cutis laxa type 1B (EFEMP2) Albinism oculocutaneous nonsyndromic (SLC24A5) Cutis laxa type 2B (PYCR1) Albinism oculocutaneous type 5 (C10ORF11) Cutis laxa type 3B (PYCR1) Albinism, oculocutaneous type 1A (TYR) Dermatitis, atopic type 2 (FLG) Albinism, oculocutaneous type 1B (TYR) Diaphyseal medullary stenosis with malignant fibrous histiocytoma (MTAP) Albinism, oculocutaneous type 2 (OCA2) Diarrhea type 2 with microvillus atrophy (MYO5B) Albinism, oculocutaneous type 2 (OCA2) , autosomal dominant type 1 (TERC) Albinism, oculocutaneous type 3 (TYRP1) Dyskeratosis congenita, autosomal dominant type 1 (TERT) Albinism, oculocutaneous type 4 (SLC45A2) Dyskeratosis congenita, autosomal recessive type 1 (NOP10) (DLX3) Dyskeratosis congenita, autosomal recessive type 2 (NHP2) Arthrogryposis, distal type 1 (TPM2) Dyskeratosis congenita, autosomal recessive type 5 (RTEL1) Arthrogryposis, distal type 1 (MYBPC1) Dyskeratosis congenita, X-linked (DKC1) Arthrogryposis, distal type 2A (MYH3) Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2) Arthrogryposis, distal type 2B (TNNT3) Ectodermal dysplasia, ectrodactyly, and macular dystrophy (CDH3) Arthrogryposis, distal type 2B (MYH3) Ectodermal dysplasia, hidrotic (GJB6) Arthrogryposis, distal type 2B (TNNI2) Ectodermal dysplasia, hypohidrotic, autosomal recessive (EDAR) Arthrogryposis, distal type 7 (MYH8) Ectodermal dysplasia, hypohidrotic, autosomal recessive (EDARADD) Arthrogryposis, distal type 9 (FBN2) Ectodermal dysplasia, hypohidrotic, with immune deficiency (IKBKG) ARTHROGRYPOSIS, MENTAL RETARDATION AND SEIZURES (SLC35A3) Ectodermal dysplasia, hypohidrotic, X-linked (EDA) Arthrogryposis, renal dysfunction and cholestasis (VPS33B) Ehlers-Danlos syndrome type 1/2 (COL5A1) Arthropathy, progressive pseudorheumatoid, of childhood (WISP3) Ehlers-Danlos syndrome type 1/2 (COL5A2) Atelosteogenesis type 1 (FLNB) Ehlers-Danlos syndrome type 3 (TNXB) Atelosteogenesis type 3 (FLNB) Ehlers-Danlos syndrome type 3 (COL3A1) Atypical Mycobacterial (IKBKG) Ehlers-Danlos syndrome type 4 (COL3A1) Atypical Mycobacterial infection (IFNGR2) Ehlers-Danlos syndrome type 4 (COL5A1) Atypical Mycobacterial infection (IL12RB1) Ehlers-Danlos syndrome type 6 (PLOD1) Atypical Mycobacterial infection (STAT1) Ehlers-Danlos syndrome type 7A (COL1A1) Autoimmune lymphoproliferative syndrome type 1A (FAS) Ehlers-Danlos syndrome type 7B (COL1A2) Autoimmune lymphoproliferative syndrome type 1B (FASLG) Ehlers-Danlos syndrome type 7C (ADAMTS2) Autoimmune lymphoproliferative syndrome type 2A (CASP10) Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Autoimmune lymphoproliferative syndrome type 2B (CASP8) (FKBP14) Autoimmune lymphoproliferative syndrome type 4 (NRAS) Ehlers-Danlos syndrome, progeroid type 1 (B4GALT7) Autoimmune polyendocrinopathy syndrome type I (AIRE) Epidermal nevus, somatic (NRAS) Autoinflammation, lipodystroph and dermatosis syndrome (PSMB8) Epidermolysis bullosa dystrophica (COL7A1) Autosomal dominant woolly hair with hypotrichosis (KRT71) Epidermolysis bullosa junctionalis with pyloric atresia (ITGA6) Autosomal dominant woolly hair with hypotrichosis (KRT74) Epidermolysis bullosa junctionalis with pyloric atresia (ITGB4) Bare lymphocyte syndrome, type 2 (RFXANK) Epidermolysis bullosa simplex (KRT5) Beare-Stevenson cutis gyrata syndrome (FGFR2) Epidermolysis bullosa simplex (KRT14) Bent bone dysplasia syndrome (FGFR2) Epidermolysis bullosa simplex, autosomal recessive (DST) Buschke-Ollendorff syndrome (LEMD3) Epidermolysis bullosa, junctional (COL17A1) C2 deficiency (C2) Epidermolysis bullosa, junctional (LAMB3) C3 deficiency (C3) Epidermolysis bullosa, junctional (LAMC2) Chediak-Higashi syndrome (LYST) Epidermolysis bullosa, junctional LAMA3 (LAMA3) Chondrodysplasia punctata, X-linked recessive (ARSE) Epidermolysis bullosa, lethal acantholytic (DSP) Chondrosarcoma (EXT1) Epidermolytic (KRT1) Chronic granulomatous disease, autosomal recessive, cytochrome b- positive, type 1 Epidermolytic hyperkeratosis (KRT10) (NCF1) Epidermolytic (KRT9) Chronic granulomatous disease, X-linked (CYBB) Erythrokeratodermia variabilis et progressive (GJB3) Cleidocranial dysplasia (RUNX2) Erythrokeratodermia variabilis et progressive (GJB4) Combined cellular and humoral immune defects with granulomas (RAG2) Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive (RAG2) (COX4I2) Combined immunodeficiency, X-linked, moderate (IL2RG) Exostoses, multiple, type 1 (EXT1) Cornelia de Lange syndrome type 1 (NIPBL) type 2 (MIR17HG) Cornelia de Lange syndrome type 2 (SMC1A) Fibrochondrogenesis 2 (COL11A2) Cornelia de Lange syndrome type 3 (SMC3) Fibrodysplasia ossificans progressiva (ACVR1) Cornelia de Lange syndrome type 4 (RAD21) Fibrosis of extraocular muscles, congenital type II (PHOX2A) Cornelia de Lange syndrome type 5 (HDAC8) Floating-Harbor syndrome (SRCAP) (PORCN)

18 5 - Bone, Skin and Immune Diseases

Frank-ter Haar syndrome (SH3PXD2B) Metaphyseal anadysplasia type 2 (MMP9) Geleophysic dysplasia (ADAMTSL2) Muckle-wells syndrome (NLRP3) Gracile bone dysplasia (FAM111A) Multicentric carpotarsal osteolysis syndrome (MAFB) Griscelli syndrome type 1 (MYO5A) Multiple pterygium syndrome lethal type (CHRNA1) Griscelli syndrome type 3 (MLPH) Multiple pterygium syndrome lethal type (CHRND) Haim-Munk syndrome (CTSC) Mycobacterial infection, atypical, familial disseminated (IFNGR1) Hemophagocytic lymphohistiocytosis type 1 (PRF1) Nail-Patella syndrome (LMX1B) Hemophagocytic lymphohistiocytosis type 3 (UNC13D) Netherton syndrome (SPINK5) Hemophagocytic lymphohistiocytosis type 4 (STX11) Neurofibromatosis type 1 (NF1) Hemophagocytic lymphohistiocytosis type 5 (STXBP2) Neurofibromatosis type 1 (SPRED1) Hyaline fibromatosis syndrome (ANTXR2) Neurofibromatosis type 2 (NF2) Hyper-IgE recurrent infection syndrome (STAT3) Odontoonychodermal dysplasia (WNT10A) Hyper-IgE recurrent infection syndrome, autosomal recessive (DOCK8) Olmsted syndrome (TRPV3) Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA) Omenn syndrome (RAG2) Hypertrophic osteoarthropathy type 2 (SLCO2A1) Omenn syndrome (DCLRE1C) Ichthyosiform erythroderma, congenital, nonbullous type 1 (ALOX12B) Omodysplasia type 1 (GPC6) Ichthyosiform erythroderma, congenital, nonbullous type 1 (ALOXE3) Opsismodysplasia (INPPL1) Ichthyosiform erythroderma, congenital, nonbullous type 1 (NIPAL4) Osteogenesis imperfecta (COL1A1) Ichthyosiform erythroderma, congenital, nonbullous type 1 (TGM1) Osteogenesis imperfecta (COL1A2) Ichthyosis congenita, Harlequin type (ABCA12) Osteogenesis imperfecta type 11 (FKBP10) Ichthyosis congenital, autosomal recessive - PNPLA1 related (PNPLA1) Osteogenesis imperfecta type 5 (IFITM5) Ichthyosis follicularis, atricia, and photophobia syndrome (MBTPS2) Osteogenesis imperfecta type 7 (CRTAP) Ichthyosis prematurity syndrome (SLC27A4) Osteogenesis imperfecta type 8 (LEPRE1) Ichthyosis vulgaris (FLG) Osteogenesis imperfecta type 9 (PPIB) Ichthyosis, bullous type (KRT2) Osteogenesis imperfecta with congenital joint contractures (PLOD2) Ichthyosis, lamellar type 1 (TGM1) Osteogenesis imperfecta, type 10 (SERPINH1) Ichthyosis, lamellar type 2 (ABCA12) Osteogenesis imperfecta, type 12 (SP7) Ichthyosis, lamellar type 3 (CYP4F22) Osteogenesis imperfecta, type 13 (BMP1) Ichthyosis, lamellar type 4 (LIPN) Osteomyelitis, sterile multifocal, with periostitis and pustulosis (IL1RN) Ichthyosis, spastic quadriplegia, and mental retardation (ELOVL4) Osteopathia striata with cranial sclerosis (AMER1) Ichthyosis, X-linked (STS) of infancy, malignant (SNX10) Immunodeficiency common variable 1 (ICOS) Osteopetrosis, autosomal dominant type 1 (CLCN7) Immunodeficiency type 14 (PIK3CD) Osteopetrosis, autosomal recessive type 1 (TCIRG1) Immunodeficiency, isolated (IKBKG) Osteopetrosis, autosomal recessive type 2 (TNFSF11) Immunodeficiency, X-linked with hyper-IgM (CD40LG) Osteopetrosis, autosomal recessive type 3 (CA2) Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3) Osteopetrosis, autosomal recessive type 4 (CLCN7) Immunological disorder, PECAM1-related (PECAM1) Osteopetrosis, autosomal recessive type 5 (OSTM1) type 2 (IKBKG) Osteopetrosis, autosomal recessive type 6 (PLEKHM1) Inflammatory bowel disease type 13 (ABCB1) Osteopetrosis, autosomal recessive type 7 (TNFRSF11A) Interleukin 2 receptor deficiency (IL2RA) Osteoporosis pseudoglioma syndrome (LRP5) Invasive pneumococcal disease, recurrent isolated type 2 (IKBKG) Pachyonychia congenita type 1 (KRT6A) Keratosis follicularis spinulosa declavans, X-linked (MBTPS2) Papillon-Lefevre syndrome (CTSC) Keratosis palmoplantaris striata type 2 (DSP) Peeling skin syndrome (CDSN) Kindler syndrome (FERMT1) Peeling skin syndrome type A (CHST8) Laryngoonychocutaneous syndrome (LAMA3) Peeling skin syndrome, acral type (TGM5) Legius syndrome (SPRED1) Porokeratosis type 3, disseminated superficial actinic (MVK) LIG4 syndrome (LIG4) Porphyria cutanea tarda (UROD) Loeys-Dietz syndrome type 1A (TGFBR1) Pseudoachondroplasia (COMP) Loeys-Dietz syndrome type 1B (TGFBR2) Psoriasis susceptibility type 11 (IL12B) Loeys-Dietz syndrome type 1C (SMAD3) Psoriasis, generalized pustular (IL36RN) Loeys-Dietz syndrome type 2A (TGFBR1) Pterygium syndrome (CHRNG) Loeys-Dietz syndrome type 2B (TGFBR2) Pycnodysostosis (CTSK) Majeed syndrome (LPIN2) Restrictive dermopathy, lethal (ZMPSTE24) Major histocompatibility comples 1 deficiency (MR1) Reticular dysgenesis (AK2) Mal de Meleda (SLURP1) Severe combined immunodeficiency due to ADA deficiency (ADA) with type B lipodystrophy (ZMPSTE24) Severe combined immunodeficiency with microcephaly, growth retardation, and (FBN1) sensitivity to ionizing radiation (NHEJ1) McKusick-Kaufman syndrome (MKKS) Severe combined immunodeficiency, B cell-negative (RAG1) Skin fragility-woolly hair syndrome (DSP)

19 5 - Bone, Skin and Immune Diseases

Skin hair eye pigmentation 6 (SLC24A4) Trichothiodystrophy (ERCC3) Spondylocarpotarsal synostosis syndrome (FLNB) Trichothiodystrophy (ERCC2) Spondylocostal dysostosis, autosomal recessive type 2 (MESP2) Trichothiodystrophy (GTF2H5) Spondylocostal dysostosis, autosomal recessive type III (LFNG) Trichothiodystrophy, nonphotosensitive type 1 (MPLKIP) Spondyloenchondrodysplasia with immune dysregulation (ACP5) Tylosis with esophageal cancer (RHBDF2) Spondyloepimetaphyseal dysplasia, Missouri type (MMP13) UV-sensitive syndrome 3 (UVSSA) Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3) Vohwinkel syndrome with ichthyosis (LOR) Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2) Waardenburg syndrome type 1 (PAX3) Systemic lupus erythematosus (DNASE1) Waardenburg syndrome type 2E (SOX10) Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 1 (ENG) Waardenburg syndrome type 4C (SOX10) Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 2 (ACVRL1) Winchester Syndrome (MMP14) Terminal osseous dysplasis (FLNA) Wolcott-Rallison syndrome (EIF2AK3) Trichodontoosseous syndrome (DLX3) Xeroderma pigmentosum, group A (XPA) Trichohepatoenteric syndrome type 1 (TTC37) Xeroderma pigmentosum, group C (XPC) Trichohepatoenteric syndrome type 2 (SKIV2L) Xeroderma pigmentosum, group D (ERCC2) Trichorhinophalangeal syndrome, type I (TRPS1) Xeroderma pigmentosum, variant type (POLH) 6 - Cardiological Diseases

Alveolar capillary dysplasia with misalignment of pulmonary veins (FOXF1) Cardiomyopathy, dilated type 1DD (RBM20) Arrhythmogenic right ventricular cardiomyopathy type 1 (TGFB3) Cardiomyopathy, dilated type 1E (SCN5A) Arrhythmogenic right ventricular cardiomyopathy type 10 (DSG2) Cardiomyopathy, dilated type 1EE (MYH6) Arrhythmogenic right ventricular cardiomyopathy type 11 (DSC2) Cardiomyopathy, dilated type 1G (TTN) Arrhythmogenic right ventricular cardiomyopathy type 12 (JUP) Cardiomyopathy, dilated type 1HH (BAG3) Arrhythmogenic right ventricular cardiomyopathy type 5 (TMEM43) Cardiomyopathy, dilated type 1I (DES) Arrhythmogenic right ventricular cardiomyopathy type 8 (DSP) Cardiomyopathy, dilated type 1L (SGCD) Arrhythmogenic right ventricular cardiomyopathy type 9 (PKP2) Cardiomyopathy, dilated type 1M (CSRP3) Atrial fibrillation type 10 (SCN5A) Cardiomyopathy, dilated type 1N (TCAP) Atrial fibrillation type 11 (GJA5) Cardiomyopathy, dilated type 1O (ABCC9) Atrial fibrillation type 3 (KCNQ1) Cardiomyopathy, dilated type 1P (PLN) Atrial fibrillation type 4 (KCNE2) Cardiomyopathy, dilated type 1R (ACTC1) Atrial fibrillation type 6 (NPPA) Cardiomyopathy, dilated type 1S (MYH7) Atrial fibrillation type 7 (KCNA5) Cardiomyopathy, dilated type 1T (TMPO) Atrial septal defect type 3 (MYH6) Cardiomyopathy, dilated type 1U (PSEN1) Atrial septal defect type 9 (GATA6) Cardiomyopathy, dilated type 1V (PSEN2) Atrioventricular septal defect type 5 (GATA6) Cardiomyopathy, dilated type 1W (VCL) (TAZ) Cardiomyopathy, dilated type 1X (FKTN) type 1 (SCN5A) Cardiomyopathy, dilated type 1Y (TPM1) Brugada syndrome type 2 (GPD1L) Cardiomyopathy, dilated type 1Z (TNNC1) Brugada syndrome type 3 (CACNA1C) Cardiomyopathy, dilated type 2A (TNNI3) Brugada syndrome type 4 (CACNB2) Cardiomyopathy, dilated type 2B (GATAD1) Brugada syndrome type 5 (SCN1B) Cardiomyopathy, dilated type 3B (DMD) Brugada syndrome type 6 (KCNE3) Cardiomyopathy, dilated type J (EYA4) Brugada syndrome type 7 (SCN3B) Cardiomyopathy, dilated with woolly hair and keratoderma (DSP) Brugada syndrome type 8 (HCN4) Cardiomyopathy, familial hypertrophic (CAV3) Brugada syndrome type 9 (SLMAP) Cardiomyopathy, familial hypertrophic type 1 (MYH7) Cardiac valvular dysplesia, X-linked (FLNA) Cardiomyopathy, familial hypertrophic type 10 (MYL2) Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency Cardiomyopathy, familial hypertrophic type 11 (ACTC1) (SCO2) Cardiomyopathy, familial hypertrophic type 12 (CSRP3) Cardiofaciocutaneous syndrome (KRAS) Cardiomyopathy, familial hypertrophic type 16 (MYOZ2) Cardiofaciocutaneous syndrome (BRAF) Cardiomyopathy, familial hypertrophic type 17 (JPH2) Cardiofaciocutaneous syndrome (MAP2K1) Cardiomyopathy, familial hypertrophic type 19 (CALR3) Cardiofaciocutaneous syndrome (MAP2K2) Cardiomyopathy, familial hypertrophic type 2 (TNNT2) Cardiomyopathy, dilated (MYBPC3) Cardiomyopathy, familial hypertrophic type 3 (TPM1) Cardiomyopathy, dilated type 1A (LMNA) Cardiomyopathy, familial hypertrophic type 4 (MYBPC3) Cardiomyopathy, dilated type 1AA (ACTN2) Cardiomyopathy, familial hypertrophic type 6 (PRKAG2) Cardiomyopathy, dilated type 1C (LDB3) Cardiomyopathy, familial hypertrophic type 7 (TNNI3) Cardiomyopathy, dilated type 1CC (NEXN) Cardiomyopathy, familial hypertrophic type 8 (MYL3) Cardiomyopathy, dilated type 1D (TNNT2)

20 6 - Cardiological Diseases

Cardiomyopathy, familial hypertrophic type 9 (TTN) MERRF syndrome (MT-TK) Cardiomyopathy, familial restrictive type 1 (TNNI3) MERRF/MELAS (MT-TS1) Cardiomyopathy, fatal (MT-TI) MERRF/MELAS overlap syndrome (MT-TS2) Cardiomyopathy, hypertrophic, midventricular, digenic (MYLK2) Microphthalmia, isolated type 6 (GDF6) Cardiomyopathy, idiopathic dilated, mitochondrial (MT-TH) and type 1 (PUS1) Central hypoventilation syndrome, congenital (ASCL1) Mitochondrial myopathy, isolated (MT-TD) Central hypoventilation syndrome, congenital, with or without Hirschsprung disease Myopathy (MT-TQ) (PHOX2B) Myopathy, lactic acidosis, and sideroblastic anemia type 2 (YARS2) Congenital heart defects multiple types (TAB2) Myopathy, mitochondrial (MT-TM) Danon disease (LAMP2) Pancreatic agenesis and congenital heart defects (GATA6) beta-hydroxylase (DBH) deficiency (DBH) Progressive familial heart block (TRPM4) Heart block type 1 (SCN5A) Pulmonary fibrosis, idiopathic (SFTPA1) Jervell and Lange-Nielsen syndrome type 1 (KCNQ1) Pulmonary newborn (CRHR1) Jervell and Lange-Nielsen syndrome type 2 (KCNE1) Sengers syndrome (AGK) Long QT syndrome type 1 (KCNQ1) Short QT syndrome type 1 (KCNH2) Long QT syndrome type 10 (SCN4B) Short QT syndrome type 2 (KCNQ1) Long QT syndrome type 11 (AKAP9) Short QT syndrome type 3 (KCNJ2) Long QT syndrome type 12 (SNTA1) Sick sinus syndrome type 1 (SCN5A) Long QT syndrome type 13 (KCNJ5) Sick sinus syndrome type 3 (MYH6) Long QT syndrome type 2 (KCNH2) Sudden syndrom (SCN5A) Long QT syndrome type 3 (SCN5A) Tetralogy of Fallot (GATA6) Long QT syndrome type 4 (ANK2) , paroxysmal familial type 1 (SCN5A) Long QT syndrome type 5 (KCNE1) , catecholaminergic polymorphic type 1 (RYR2) Long QT syndrome type 6 (KCNE2) Ventricular tachycardia, catecholaminergic polymorphic type 2 (CASQ2) Long QT syndrome type 8 (CACNA1C) Ventricular tachycardia, catecholaminergic polymorphic type 3 (CALM2) Long QT syndrome type 9 (CAV3) Ventricular tachycardia, catecholaminergic polymorphic type 4 (CALM1) McKusick-Kaufman-Syndrome (MKKS) Wolff -Parkinson-White syndrome (PRKAG2) MELAS syndrome (MT-TF) MELAS syndrome (MT-TL1) 7 - Vascular Diseases

Angioedema, hereditary (SERPING1) Coronary artery disease in familial hypercholesterolemia, protection against (ABCA1) Antithrombin III deficiency (SERPINC1) Fabry disease (GLA) Aortic Aneurysm, familial thoracic type 1 (MYH11) Factor II deficiency (F2) Aortic Aneurysm, familial thoracic type 1 (TGFBR1) Glycoprotein Ia C807T polymorphism (ITGA2) Aortic Aneurysm, familial thoracic type 1 (TGFBR2) (CBS) Aortic Aneurysm, familial thoracic type 1 (FBN1) Homocystinuria (MTHFR) Aortic aneurysm, familial thoracic type 6 (ACTA2) Homocystinuria, B12-responsive (MTR) Aortic Aneurysm, familial thoracic type 7 (MYLK) Homocystinuria-megaloblastic anemia, cbl E type (MTRR) disease type 1 (NOTCH1) Hypertension early onset (NR3C2) Aortic valve disease type 2 (SMAD6) Loeys-Dietz syndrome type 4 (TGFB2) Arterial Hypertension, idiopathic pulmonary (BMPR1B) Mitochondrial myopathy and sideroblastic anemia 1 (PUS1) Arterial Tortuosity Syndrome (SLC2A10) Moyamoya disease type 2 (RNF213) Bernard Soulier syndrome type A1 (GP1BA) Myoglobinuria acute recurrent (LPIN1) Bernard Soulier syndrome type A2 (GP1BA) Myopathy with lactic acidosis hereditary (ISCU) Bernard Soulier syndrome type B (GP1BB) Orthostatic intolerance (SLC6A2) Bernard Soulier syndrome type C (GP9) Plasminogen activator inhibitor type 1 (SERPINE1) CADASIL (NOTCH3) Protein C Deficiency, AD (PROC) CARASIL (HTRA1) Protein S Deficiency, AD (PROS1) Cerebral cavernous malformations type 1 (KRIT1) type IID (KLHL3) Cerebral cavernous malformations type 2 (CCM2) Pseudohypoaldosteronism type IIE (CUL3) Cerebral cavernous malformations type 3 (PDCD10)

21 8 - Liver, and Endocrinological Diseases

17-beta hydroxysteroid dehydrogenase X deficiency (HSD17B10) Hemolytic uremic syndrome (CFI) Achalasia addisonianism alacrimia syndrome (AAAS) Hemolytic uremic syndrome (CD46) Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete Hemolytic uremic syndrome (THBD) (CYP11A1) Hemolytic uremic syndrome (CFB) Alport syndrome, autosomal recessive (COL4A3) Hemolytic uremic syndrome (CFHR1) Alport syndrome, autosomal recessive (COL4A4) Hemolytic uremic syndrome (CFHR2) Alport syndrome, X-Linked (COL4A5) Hemolytic uremic syndrome (CFHR3) Androgen insensitivity (AR) Hemolytic uremic syndrome (CFHR4) Bardet-Biedl syndrome CCDC28B related (CCDC28B) Hemolytic uremic syndrome (CFHR5) Bardet-Biedl syndrome LZTFL1 related (LZTFL1) Hepatic failure, early onset, and neurologic disorder (SCO1) Bardet-Biedl syndrome type 1 (BBS1) Hyperaldosteronism type 3 (KCNJ5) Bardet-Biedl syndrome type 10 (BBS10) Hyperbilirubinemia, Rotor type (SLCO1B1) Bardet-Biedl syndrome type 11 (TRIM32) Hyperbilirubinemia, Rotor type (SLCO1B3) Bardet-Biedl syndrome type 12 (BBS12) Hypogonadotropic hypogonadism (KISS1R) Bardet-Biedl syndrome type 13 (MKS1) Hypogonadotropic hypogonadism (NSMF) Bardet-Biedl syndrome type 15 (WDPCP) Hypogonadotropic hypogonadism (LHB) Bardet-Biedl syndrome type 2 (BBS2) Hypogonadotropic hypogonadism 11 with or without anosmia (TACR3) Bardet-Biedl syndrome type 3 (ARL6) Hypogonadotropic hypogonadism 12 with or without anosmia (GNRH1) Bardet-Biedl syndrome type 4 (BBS4) Hypogonadotropic hypogonadism 7 with or without anosmia (GNRHR) Bardet-Biedl syndrome type 5 (BBS5) Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE) Bardet-Biedl syndrome type 6 (MKKS) Hypophosphatemic rickets, autosomal dominant (FGF23) Bardet-Biedl syndrome type 7 (BBS7) Hypophosphatemic rickets, autosomal recessive type 1 (DMP1) Bardet-Biedl syndrome type 8 (TTC8) Hypophosphatemic rickets, X-linked (PHEX) Bardet-Biedl syndrome type 9 (BBS9) Hypothyroidism congenital nongoitrous type 1 (TSHR) (SLC12A2) Hypothyroidism congenital nongoitrous type 2 (PAX8) Bartter syndrome (SLC12A3) Hypothyroidism congenital nongoitrous type 4 (TSHB) Bartter syndrome (SLC12A5) Hypothyroidism congenital nongoitrous type 6 (THRA) Bartter syndrome (SLC12A7) Hypotonia- syndrome (PREPL) Bartter syndrome CASR related (CASR) Immunodeficiency with natural killer cell deficiency (MCM4) Bartter syndrome type 1 (SLC12A1) Immunodeficiency, common variable type 7 (CR2) Bartter syndrome type 2 (KCNJ1) Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and Bartter syndrome type 3 (CLCNKB) neoplasia (MAGT1) Bartter syndrome type 4a (BSND) Interstitial nephritis karyomegalic (FAN1) Bartter syndrome type 4b (CLCNKA) Johanson Blizzard syndrome (UBR1) Cystinosis, nephropathic (CTNS) type 1 (KAL1) Cystinuria (SLC3A1) Kallmann syndrome type 2 (FGFR1) Cystinuria (SLC7A9) Kallmann syndrome type 3 (PROKR2) Cystinuria (PREPL) Kallmann syndrome type 4 (PROK2) , nephrogenic, autosomal (AQP2) Kallmann syndrome, SEMA3A related (SEMA3A) Dubin-Johnson syndrome (ABCC2) Laron syndrome (GHR) Epstein syndrome (MYH9) Leydig cell adenoma (LHCGR) Factor XI deficiency (F11) Liddle syndrome (SCNN1B) Factor XII deficiency (F12) Liddle syndrome (SCNN1G) Fanconi renotubular syndrome 2 (SLC34A1) Lipoid congenital adrenal hyperplasia (STAR) Fanconi-Bickel syndrome (SLC2A2) Lipoprotein glomerulopathy (APOE) Focal segmental glomerulosclerosis type 1 (ACTN4) Liver failure transient infantile (TRMU) Focal segmental glomerulosclerosis type 2 (TRPC6) Lowe oculocerebrorenal syndrome (OCRL) Focal segmental glomerulosclerosis type 3 (CD2AP) LYSINURIC PROTEIN INTOLERANCE (SLC7A7) Focal segmental glomerulosclerosis type 5 (INF2) McKusick-Kaufman-Syndrome (MKKS) Gilbert syndrome (UGT1A1) Meckel syndrome type 1 (MKS1) (SLC12A3) Meckel syndrome type 10 (B9D2) Glomerulosclerosis, focal segmental (ACTN4) Meckel syndrome type 3 (TMEM67) Glycine encephalopathy (AMT) Meckel syndrome type 4 (CEP290) Glycine encephalopathy (GLDC) Meckel syndrome type 8 (TCTN2) Growth hormone deficiency (GH1) Meckel syndrome type 9 (B9D1) Growth hormone deficiency (GHRHR) Medullary cystic type 2 (UMOD) Hemolytic uremic syndrome (CFH) (ATP7A) Hemolytic uremic syndrome (DGKE) Multiple endocrine neoplasia type 1 (MEN1) Hemolytic uremic syndrome (ADAMTS13) Nephrogenic syndrome of inapproriate antidiuresis (AVPR2)

22 8 - Liver, Kidney and Endocrinological Diseases

Nephrolithiasis type I (CLCN5) Polycystic kidney disease type 1, autosomal dominant (PKD1) Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 (SLC34A1) Polycystic kidney disease type 1, autosomal recessive (PKHD1) type 1 (NPHP1) Polycystic kidney disease type 2, autosomal dominant (PKD2) Nephronophthisis type 12 (TTC21B) Polycystic ovary syndrome 1 (SULT2A1) Nephronophthisis type 14 (ZNF423) Polycystic ovary syndrome type 1 (SULT2B1) Nephronophthisis type 15 (CEP164) Premature ovarian failure type 1 (FMR1) Nephronophthisis type 16 (ANKS6) Pseudohypoaldosteronism, type 1, autosomal dominant (NR3C2) Nephronophthisis type 2 (INVS) Pseudohypoaldosteronism, type 1, autosomal recessive (SCNN1A) Nephronophthisis type 3 (NPHP3) Pseudohypoaldosteronism, type 1, autosomal recessive (SCNN1B) Nephronophthisis type 4 (NPHP4) Pseudohypoaldosteronism, type 1, autosomal recessive (SCNN1G) Nephronophthisis type 7 (GLIS2) Pseudohypoaldosteronism, type 2B (WNK4) Nephronophthisis type 9 (NEK8) Renal chromophobe somatic carcinoma (FLCN) Nephronophthisis-like nephropathy 1 (XPNPEP3) Renal cystic dysplasia (BICC1) Nephrosis, Finnish type (NPHS1) Renal hypoplasia, isolated (PAX2) Nephrotic syndrome (NPHS2) Renal tubular acidosis (SLC4A5) Nephrotic syndrome type 2 (NPHS1) Renal tubular acidosis with deafness (ATP6V1B1) Nephrotic syndrome type 4 (WT1) Renal tubular acidosis, distal, autosomal recessive (ATP6V0A4) Nephrotic syndrome type 5 (LAMB2) Renal tubular acidosis, proximal, with ocular abnormalities (SLC4A4) Nephrotic syndrome type 7 (DGKE) Renal tubular dysgenesis (REN) Nephrotic syndrome type 8 (ARHGDIA) Renal tubular dysgenesis (ACE) Obesity (MC4R) Renal tubular dysgenesis (AGT) Obesity due to leptin deficiency (LEP) Rickets, vitamin D-resistant, type IIA (VDR) Obesity with adrenal insufficiency and red hair (POMC) Senior-Loken syndrome type 7 (SDCCAG8) Obesity with impaired prohormone processing (PCSK1) SERKAL syndrome (WNT4) Obesity, early-onset, susceptibility to (POMC) Thromocytopenia-Absent-Radius-Syndrome (RBM8A) Otospondylomegaepiphyseal dysplasia (COL11A2) Thyroid dyshormonogenesis type 1 (SLC5A5) Ovalocytosis (SLC4A1) Thyroid dyshormonogenesis type 2A (TPO) Pancreatitis (PRSS1) Thyroid dyshormonogenesis type 3 (TG) Pancreatitis (SPINK1) Thyroid hormone metabolism abnormal (SECISBP2) Pancreatitis (CFTR) Thyroid hormone resistance (THRB) Pancreatitis (CTRC) Trifunctional protein deficiency (HADHB) Panhypopituitarism, X-linked (SOX3) Vesicoureteral reflux type 2 (ROBO2) Pendred syndrome (SLC26A4) Vesicoureteral reflux type 3 (SOX17) Pituitary hormone deficiency, combined type III (LHX3) Wilms tumor type 1 (WT1) Pituitary hormone deficiency, combined type IV (LHX4) Wolcott-Rallison syndrome (EIF2AK3) 9 - Reproductive

46XX sex reversal 1 (SRY) Oligo-astheno-teratozoospermia (NANOS1) Aromatase deficiency (CYP19A1) Oogenesis dysfunction (SOHLH1) Autosomal nonsyndromic male infertility (CATSPER2) Ovarian dysgenesis 1 (FSHR) Azoospermia induced by Y microdeletions (AZF region) Persistent Mullerian duct syndrome type 1 (AMH) Deafness and male infertility (STRC) Persistent Mullerian duct syndrome type 2 (AMHR2) Disorders of sex development with cleft palate (FOXF2) Pseudohermaphroditism with gynecomastia (HSD17B3) Follicle-stimulating hormone deficiency, isolated (FSHB) SPGF4 (SYCP3) Hydatidiform mole (NLRP7) SPGF5 (AURKC) Hydatidiform mole (KHDC3L) SPGF6 (SPATA16) Hypogonadotropic hypogonadism (NSMF) SPGF7 (CATSPER1) Hypogonadotropic hypogonadism (KISS1) SPGF8 (NR5A1) Hypogonadtropic hypogonadism type 14 (WDR11) SPGF9 (DPY19L2) type 1 (LHCGR) 10 - Tumoral and Haematological Diseases

Acute myeloid leukemia (RUNX1) Afibrinogenemia, congenital (FGB) Acute nonlymphocytic leukemia (DEK) Afibrinogenemia, congenital (FGA) Adenomatous polyposis of the colon (APC) Agammaglobulinemia, X-linked (BTK) Afibrinogenemia, congenital (FGG) Alpha-Thalassemia Myelodysplasia Syndrome, somatic (ATRX)

23 10 - Tumoral and Haematological Diseases

Anemia X linked (GATA1) Juvenile polyposis syndrome (SMAD4) Anemia, neonatal hemolytic, fatal and near-fatal (SPTB) Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4) Beckwith-Wiedemann syndrome (chr. 11p15) Leukemia (MCM3AP) Beckwith-Wiedemann syndrome (CDKN1C) Leukemia (ZNF233) Beckwith-Wiedemann syndrome (NSD1) Leukemia (PKHD1L1) Beckwith-Wiedemann syndrome (KCNQ1OT1) Leukemia (MBD1) Beckwith-Wiedemann syndrome (H19) Leukemia, lymphoblastic acute form (FLT3) Bone marrow failure (SRP72) Leukemia, myeloid acute form (FLT3) BRCA1/BRCA2 panel (BRCA1, BRCA2) Leukemia, myeloid acute form (NPM1) Breast cancer (PALB2) Leukemia, myeloid acute form (CEBPA) Breast cancer (BARD1) Leukemia, acute promyelocytic form (PML) Breast-ovarian cancer (BRCA1) Leukemia, atypical chronic (CSF3R) Breast-ovarian cancer (BRCA2) Leukemia, lymphocytic form (GGT5) Breast-ovarian cancer (RAD51C) Leukemia, myeloid acute form (PICALM) Breast-ovarian cancer (RAD51D) Leukemia, myeloid acute form (MLF1) Cancer related FOXF2 deficiency (FOXF2) Leukemia, myeloid acute form (CBFB) Colorectal adenomatous polyposis (MUTYH) Leukemia, promyelocytic acute form (NUMA1) Colorectal cancer, hereditary (NRAS) Leukemia/Lymphoma, B-cell type (t(14,18)) Colorectal cancer, hereditary nonpolyposis type 1 (MSH2) Leukemia/Lymphoma, B-cell type (t(11:14)) Colorectal cancer, hereditary nonpolyposis type 2 (MLH1) Li-Fraumeni syndrome type 1 (TP53) Colorectal cancer, hereditary nonpolyposis type 4 (PMS2) Li-Fraumeni syndrome type 2 (CHEK2) Colorectal cancer, hereditary nonpolyposis type 5 (MSH6) Lung cancer (BRAF) Colorectal cancer, hereditary nonpolyposis type 6 (TGFBR2) Lung cancer (EGFR) Colorectal cancer, hereditary nonpolyposis type 7 (MLH3) Lung cancer (ERBB2) Colorectal cancer, hereditary nonpolyposis type 8 (EPCAM) Lymphoproliferative syndrome 1 (ITK) Colorectal cancer, somatic (FLCN) Lymphoproliferative syndrome, X-linked type 1 (SH2D1A) Colorectal cancer, somatic (CTNNB1) Lymphoproliferative syndrome, X-linked type 2 (XIAP) Cowden disease (PTEN) MAML3-related tumors (MAML3) Cowden disease (AKT1) Medulloblastoma (CROCC) Dehydrated hereditary stomatocytosis (PIEZO1) Megaloblastic anemia type 1 (AMN) Delta-beta thalassemia (HBB) Megaloblastic anemia type 1 (CUBN) Dermatofibrosarcoma protuberans (PDGFB) , cutaneous malignant (CDKN2A) Diamond-Blackfan anemia type 1 (RPS19) Melanoma, cutaneous malignant (CDKN2B) Diamond-Blackfan anemia type 10 (RPS26) Melanoma, cutaneous malignant (CDK4) Diamond-blackfan anemia type 3 (RPS24) Melanoma, cutaneous malignant (MC1R) Diamond-Blackfan anemia type 4 (RPS17) Melanoma, cutaneous malignant (MITF) Diamond-Blackfan anemia type 5 (RPL35A) Multiple endocrine neoplasia type 2A (RET) Diamond-Blackfan anemia type 6 (RPL5) Multiple endocrine neoplasia type 2B (RET) Diamond-Blackfan anemia type 7 (RPL11) Myelodysplastic syndrome susceptibility (TET2) Diamond-Blackfan anemia type 8 (RPS7) Myeloproliferative disorder, chronic, with eosinophilia (PDGFRB) Diamond-Blackfan anemia type 9 (RPS10) Neurofibromatosis type 1 (NF1) Dyserythropoietic anemia (COX4I2) Neurofibromatosis type 1 (SPRED1) Dyserythropoietic anemia, congenital type Ib (C15orf41) Neurofibromatosis type 2 (NF2) Endometrial carcinoma (MSH3) , severe congenital type 1 (ELANE) Erythrocytosis, familial type 1 (SH2B3) Neutropenia, severe congenital type 3 (HAX1) Erythrocytosis, familial type 3 (EGLN1) Neutrophilia, hereditary (CSF3R) Erythrocytosis, familial type 4 (EPAS1) Nonpolyposis colon cancer (PMS1) Gastric cancer, hereditary diffuse (CDH1) NR1I2-related tumors (NR1I2) Gastric carcer (MUC1) Pancreatic cancer (PALB2) Gastrointestinal stromal tumor (KIT) Paragangliomas type 4 (SDHB) Gastrointestinal stromal tumor, somatic (PDGFRA) Peutz-Jeghers syndrome (STK11) Glioma, MGMT related (MGMT) Pheochromocytoma type 1 (SDHA) Glioma, VN1R4-related (VN1R4) Pheochromocytoma type 2 (SDHB) Hemangioma capillary infantile (ANTXR1) Pheochromocytoma type 3 (SDHC) Hydrolethalus syndrome (HYLS1) Pheochromocytoma type 4 (SDHD) Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA) Pheochromocytoma type 5 (SDHAF2) Intrinsic factor deficiency (GIF) Pheochromocytoma type 6 (VHL) Juvenile polyposis syndrome (BMPR1A) Pheochromocytoma type 7 (PRKAR1A)

24 10 - Tumoral and Haematological Diseases

Pheochromocytoma type 8 (TMEM127) Spherocytosis type 3 (SPTA1) Pheochromocytoma type 9 (MAX) Spherocytosis type 5 (EPB42) Platelet aggregation disorder (PEAR1) Thalassemia, alpha (HBA1) Platelet disorder with associated myeloid malignancy (RUNX1) Thalassemia, alpha (HBA2) Pleuropulmonary blastoma (DICER1) Thrombocytopenia congenital amegakaryocytic (MPL) Polyposis syndrome, hereditary mixed (GREM1) Thrombocytopenia type 2 (MASTL) Polyposis syndrome, hereditary mixed type 2 (BMPR1A) Thrombocytopenia with beta thalassemia X-linked (GATA1) Prostate cancer (PMEPA1) Thrombocytopenia X linked (GATA1) Prostate cancer (ELAC2) Thrombocytopenia X linked intermittent (WAS) Prostate cancer (RNASEL) Thrombocytopenia, neonatal alloimmune (ITGA2B) Prostate cancer (BRCA2) Thrombocytopenia, neonatal alloimmune (ITGB3) Prostate cancer (SRD5A2) Thrombosis, inflammation, autoimmune diseases (ENTPD1) Prostate cancer (STAG1) Thrombotic thrombocytopenic purpura (ADAMTS13) Prostate cancer (ZNF783) Thyroid carcinoma Hurthle cell (NDUFA13) , papillary type 1 (MET) Tumor related CDK11A-deficiency (CDK11A) Schimke immunoosseous dysplasia (SMARCAL1) Tylosis with esophageal cancer (RHBDF2) SCID autosomal recessive T negative B positive type (JAK3) von Hippel-Lindau syndrome (VHL) Shwachman-Diamond syndrome (SBDS) von Willebrand disease (VWF) Sickle cell anemia (HBB) von Willebrand disease platelet type (GP1BA) Spherocytosis type 1 (ANK1) Wiedemann-Steiner syndrome (KMT2A) Spherocytosis type 2 (SPTB) 11 - Malformation and/or Retardation

Acromesomelic dysplasia, Maroteaux type (NPR2) Brachydactyly- syndrome (HOXD13) ADULT syndrome, split hand-foot malformation (TP63) C syndrome (CD96) Alagille syndrome type 1 (JAG1) (SOX9) Alagille syndrome type 2 (NOTCH2) Camurati-Engelmann disease (TGFB1) Alagille syndrome type 3 (JAG2) Cantu syndrome (ABCC9) Ankyloblepharon-ectodermal defects-cleft lip/palate (TP63) Central hypoventilation syndrome, congenital (RET) Antley-Bixler syndrome (FGFR2) Central hypoventilation syndrome, congenital (GDNF) (FGFR2) Central hypoventilation syndrome, congenital (EDN3) Athabaskan brainstem dysgenesis syndrome (HOXA1) Central hypoventilation syndrome, congenital (BDNF) Atrial septal defect type 2 (GATA4) Central hypoventilation syndrome, congenital (ASCL1) Atrial septal defect with atrioventricular conduction defects (NKX2-5) Central hypoventilation syndrome, congenital (PHOX2A) Atrioventricular septal defect, partial with heterotaxy syndrome (CRELD1) Central hypoventilation syndrome, congenital (ZEB2) Auriculocondylar syndrome (GNA13) Central hypoventilation syndrome, congenital (GFRA1) Auriculocondylar syndrome type 2 (PLCB4) Central hypoventilation syndrome, congenital (ECE1) Axenfeld-Rieger syndrome type 3 (FOXC1) Central hypoventilation syndrome, congenital (MECP2) Axenfeld-Rieger syndrome type 3 (PITX2) Central hypoventilation syndrome, congenital, with or without Hirschsprung disease Axenfeld-Rieger syndrome type 3 (PAX6) (PHOX2B) Axenfeld-Rieger syndrome type 3 (CYP1B1) Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Baller-Gerold syndrome (RECQL4) (SNAP29) Band-like calcification with simplified gyration and polymicrogyria (OCLN) Cerebrooculofacioskeletal syndrome type 1 (ERCC6) Baraitser-Winter syndrome 1 (ACTB) Cerebrooculofacioskeletal syndrome type 4 (ERCC1) Baraitser-Winter syndrome 2 (ACTG1) CHARGE syndrome (CHD7) Basal cell nevus syndrome, Gorlin syndrome (PTCH1) CHIME syndrome (PIGL) Basal ganglia calcification type 3 (SLC20A2) Choroideremia (CHM) Basal ganglia calcification type 4 (PDGFRB) Chudley-McCullough syndrome (GPSM2) Bifid nose (FREM1) CLOVE syndrome (PIK3CA) Birt-Hogg-Dube syndrome (FLCN) Club foot (PITX1) Bjornstad syndrome (BCS1L) , type A (ERCC8) Brachydactyly type A2 (BMPR1B) COFFIN-SIRIS SYNDROME (SMARCE1) Brachydactyly type A2 (BMP2) Congenital heart disease and transposition of the great arteries (FOXH1) Brachydactyly type B1 (ROR2) Congenital short-bowel syndrome (CLMP) Brachydactyly type E1 (HOXD13) Corpus callosum, agenesis of, with abnormal genitalia (ARX) Brachydactyly, type A1 (GDF5) Cortical dysplasia, complex, with other brain malformations (TUBB3) Brachydactyly-mental retardation syndrome (HDAC4) Cortical malformations, occipital (LAMC3) Costello syndrome (HRAS) Craniofrontonasal syndrome (EFNB1)

25 11 - Malformation and/or Retardation Syndromes

Craniometaphyseal dysplasia (ANKH) Kallmann syndrome (FGFR1) Craniosynostosis type 2 (MSX2) Kallmann syndrome (KAL1) Craniosynostosis type 3 (TCF12) Kallmann syndrome (FGF8) (MNX1) Kallmann syndrome type 2 (PROK2) Denys-Drash syndrome (WT1) Kallmann syndrome type 2 (PROKR2) DiGeorge syndrome (TBX1) KBG syndrome (ANKRD11) Donnai-Barrow syndrome (LRP2) (MGP) Duane Retraction syndrome (SALL4) Kleefstra syndrome (EHMT1) Dysmorphism, HMG20B-related (HMG20B) Klippel-Feil syndrome type 1, autosomal dominant (GDF6) Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (TP63) Klippel-Feil syndrome type 3, autosomal dominant (GDF3) Faciogenital dysplasia (FGD1) Koolen syndrome (KANSL1) Feingold syndrome (MYCN) LADD syndrome (FGF10) Fetal akinesia deformation sequence (DOK7) LADD syndrome (FGFR2) Fetal akinesia deformation sequence (RAPSN) Langer-Giedion syndrome (EXT1) Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly Langer-Giedion syndrome (TRPS1) (WNT7A) (FLNB) (GRIP1) Left-right axis malformations (LEFTY2) Fraser syndrome (FREM2) LEOPARD syndrome 3 (BRAF) Fraser syndrome (WT1) Lethal congenital contracture syndrome 4 (MYBPC1) (FH) Leukemia megakaryoblastic of Down syndrome (GATA1) Genitopatellar syndrome (KAT6B) Limb-mammary syndrome (TP63) Goldberg-Shprintzen megacolon syndrome (KIAA1279) Lissencephaly type 1 (PAFAH1B1) GRACILE syndrome (BCS1L) Lissencephaly type 2 (RELN) Greig cephalopolysyndactyly syndrome (GLI3) Lissencephaly type 3 (TUBA1A) Growth retardation with deafness and mental retardation due to IGF1 deficiency Lissencephaly, X-linked type 2 (ARX) (IGF1) Lissencephaly, X-linked type 1 (DCX) Hamamy syndrome (IRX5) Lujan- (MED12) (AKT3) Lymphedema-distichiasis syndrome (FOXC2) Heterotaxy, visceral type 1 (ZIC3) Mandibulofacial dysostosis with microcephaly (EFTUD2) Heterotaxy, visceral type 2 (CFC1) Martsolf syndrome (RAB3GAP2) Heterotaxy, visceral type 4 (ACVR2B) Meacham syndrome (WT1) Heterotaxy, visceral type 5 (NODAL) Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (PIK3R2) Hirschsprung disease (ECE1) Meier-Gorlin syndrome 1 (ORC1) Hirschsprung disease (EDN3) Meier-Gorlin syndrome 4 (CDT1) Hirschsprung disease (EDNRB) Metaphyseal anadysplasia type 1 (MMP13) Hirschsprung disease (GDNF) Metaphyseal anadysplasia type 2 (MMP9) Hirschsprung disease (KIAA1279) Metaphyseal dysplasia without hypotrichosis (RMRP) Hirschsprung disease (NRG1) Microcephalic osteodysplastic type 1 (RNU4ATAC) Hirschsprung disease (NRTN) Microcephalic osteodysplastic primordial dwarfism type 2 (PCNT) Hirschsprung disease (RET) Microcephaly Amish type (SLC25A19) Hirschsprung disease (SOX10) Microcephaly and chorioretinopathy with or without mental retardation (TUBGCP6) Hirschsprung disease (ZEB2) Microcephaly AP4M1 related (AP4M1) type 11 (CDON) Microcephaly CEP63 related (CEP63) Holoprosencephaly type 2 (SIX3) Microcephaly MRE11A related (MRE11A) Holoprosencephaly type 3 (SHH) Microcephaly MSMO1 related (MSMO1) Holoprosencephaly type 4 (TGIF1) Microcephaly TUBB2B related (TUBB2B) Holoprosencephaly type 5 (ZIC2) Microcephaly with cortical malformations, autosomal recessive type 2 (WDR62) Holoprosencephaly-type 9 (GLI2) Microcephaly with epilepsy and diabetes syndrome (IER3IP1) Holt-Oram syndrome (TBX5) Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, Holt-Oram syndrome (SALL4) MCLMR (KIF11) Hyperphosphatasia with mental retardation syndrome 2 (PIGO) Microcephaly with symplified gyral pattern and insulin-dependant diabetes (GFM2) Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal Microcephaly, autosomal recessive type 1 (MCPH1) syndrome (DCAF17) Microcephaly, autosomal recessive type 2 (WDR62) 2, X-linked (MAMLD1) Microcephaly, autosomal recessive type 3 (CDK5RAP2) IMAGE syndrome (CDKN1C) Microcephaly, autosomal recessive type 4 (CASC5) Intestinal atresia, multiple (TTC7A) Microcephaly, autosomal recessive type 5 (ASPM) Jackson-Weiss syndrome (FGFR2) Microcephaly, autosomal recessive type 6 (CENPJ) Jawad syndrome (RBBP8) Microcephaly, autosomal recessive type 7 (STIL) Kabuki syndrome type 1 (KMT2D) Microcephaly, autosomal recessive type 8 (CEP135) Kabuki syndrome type 2 (KDM6A) Kallmann syndrome (CHD7)

26 11 - Malformation and/or Retardation Syndromes

Microcephaly, autosomal recessive type 9 (CEP152) Rubinstein-Taybi syndrome (EP300) Miller Dieker lissencephaly syndrome (YWHAE) Saethre-Chotzen syndrome (TWIST1) Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN) Saethre-Chotzen syndrome (FGFR2) Multiple joint dislocations, , craniofacial dysmorphism, and congenital SC Phocomelia syndrome (ESCO2) heart defects (B3GAT3) , maxillary retrusion, and mental retardation (FGFR2) Neuroblastoma (ALK) (EMX2) Nicolaides Baraitser syndrome (SMARCA2) (ATRIP) Noonan syndrom like (SHOC2) Seckel syndrome type 1 (ATR) type 1 (PTPN11) Seckel syndrome type 2 (RBBP8) Noonan syndrome type 3 (KRAS) Seckel syndrome type 4 (CENPJ) Noonan syndrome type 4 (SOS1) Seckel syndrome type 5 (CEP152) Noonan syndrome type 5 (RAF1) Seckel syndrome type 6 (CEP63) Noonan syndrome type 6 (NRAS) Septooptic dysplasia (HESX1) Noonan syndrome type 7 (BRAF) SERKAL syndrome (WNT4) Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia Severe combined immunodeficiency with microcephaly, growth retardation, and (CBL) sensitivity to ionizing radiation (NHEJ1) Oculodentodigital dysplasia (GJA1) Short stature syndrome (SHOX) Olmsted syndrome (TRPV3) Short stature syndrome (GHR) Opitz-Kaveggia syndrome (MED12) Short- thoracic dysplasia type 4 with or without polydactyly (TTC21B) Orofacial cleft type 11 (BMP4) Short-rib thoracic dysplasia type 6 with or without polydactyly (NEK1) Orofacial cleft type 5 (MSX1) Shprintzen-Goldberg syndrome (SKI) Otofaciocervical syndrome (EYA1) Smith-Lemli-Opitz syndrome (DHCR7) Pallister-Hall syndrome (GLI3) (NSD1) (PAX2) Sotos-like syndrome (NFIX) Parietal foramina type 1 (MSX2) Speech-language disorder type 1 (FOXP2) (DIS3L2) folate sensitive (MTRR) (FGFR2) Spondylo-megaepiphyseal-metaphyseal dysplasia (NKX3-2) Pitt-Hopkins syndrome (TCF4) Stuve-Wiedemann syndrome (LIFR) Pitt-Hopkins syndrome (NRXN1) Syndactyly type 1 (HOXD13) Pituitary adenoma, growth hormone secreting (GNAS) Syndactyly type 5 (HOXD13) Pituitary adenoma, growth hormone-secreting (AIP) TANC2 - related brain disorders (TANC2) Pituitary hormone deficiency type 1 (POU1F1) Tetraamelia, autosomal recessive (WNT3) Pituitary hormone deficiency type 2 (PROP1) Three M syndrome type 1 (CUL7) Polymicrogyria asymmetric (TUBB2B) Three M syndrome type 2 (OBSL1) Polymicrogyria bilateral frontoparietal (GPR56) Toe syndactyly, telecanthus, and anogenital andrenal malformations (FAM58A) Polymicrogyria bilateral occipital (NR2E1) Tooth agenesis, selective type 1 (MSX1) Polymicrogyria with optic nerve hypoplasia (TUBA8) Tooth agenesis, selective type 3 (PAX9) Polymicrogyria with seizures (RTTN) Townes-Brocks syndrome (SALL1) Popliteal pterygium syndrome, lethal type (RIPK4) Townes-Brocks syndrome (SALL4) Porencephaly, familial (COL4A1) Transposition of great arteries, dextro-looped 3 (GDF1) Postaxial acrofacial dysostosis (DHODH) Ulna and fibula, absence of, with severe limb deficiency (WNT7A) RAPADILINO syndrome (RECQL4) Ulnar-Mammary syndrome (TBX3) Rapp-Hodgkin syndrome (TP63) Urofacial syndrome (LRIG2) Rett syndrome (MECP2) Van den Ende-Gupta syndrome (SCARF2) Rett syndrome, congenital variant (FOXG1) (GRHL3) Rhizomelic chondrodysplasia punctata type 2 (GNPAT) Vater association (HOXD13) Rhizomelic chondrodysplasia punctata type 3 (AGPS) (EPG5) RNA processing related disorders (HNRNPU) Warburg micro syndrome type 1 (RAB3GAP1) Roberts syndrome (ESCO2) (NSD1) (ROR2) Weaver syndrome (EZH2) Robinow syndrome (WNT5A) Weill-Marchesani syndrome type 3 (LTBP2) Rothmund-Thomson syndrome (RECQL4) Witkop syndrome (MSX1) Rubinstein-Taybi syndrome (CREBBP)

27 12 - Panels

Aicardi-Goutieres syndrome panel (NGS Panel) (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, Cataract panel (NGS Panel) SAMHD1) (AGK,CRYAA,CRYAB,CRYBB1,CRYBB3,CTDP1,FYCO1,GCNT2,GJA8,HSF4,LIM2,SIL1,TDRD7) Albinism panel (NGS Panel) (GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, Catecholaminergic polymorphic ventricular tachycardia panel (NGS Panel) (RYR2, CASQ2, TYR, TYRP1) KCNJ2) Alport syndrome panel (NGS Panel) (COL4A3, COL4A4, COL4A5) Central hypoventilation syndrome panel (NGS Panel) (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, Alzheimer dementia and dementia panel (NGS Panel) (APOE, APP, PRNP, PSEN1, PSEN2, PHOX2B, ZEB2, GFRA1, ECE1, MECP2) SORL1, TREM2) Cerebellar ataxia panel (NGS Panel) (ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, Amyotrophic lateral sclerosis (ALS) panel (NGS Panel) (ALS2, ANG, ATXN2, C9orf72, SACS, SETX, SYNE1, TTPA, VLDLR) CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, Ceroid lipofuscinosis panel (NGS Panel) (CLN3,CLN5,CLN6,CLN8,CTSD,DNAJC5,MFSD8,PPT1,TPP1) TARDBP, UBQLN2, VAPB, VCP, VEGFA, VPS54) Ciliary (primary) dyskinesia panel (NGS Panel) (DNAI1, DNAAF3, DNAH5, HYDIN , NME8, DNAH11, Aortic aneurysm, hereditary thoracic panel (NGS Panel) (MYH11, ACTA2, TGFBR1, TGFBR2, DNAI2 , RSPH4A, RSPH9, DNAAF1, CCDC39 , CCDC40, DNAL1, CCDC103, HEATR2, LRRC6, CCDC114) FBN1, COL3A1, SMAD3, CBS, FBN2, SLC2A10, MYLK, TGFB2) CMT neuropathy axonal autosomal dominant panel (NGS Panel) (AARS, ARHGEF10, DNM2, , herditary panel (NGS Panel) GAN, GARS, GDAP1, DYNC1H1, HSPB8, HSPB1, KIF1B, LMNA, MED25, MFN2, MPZ, NEFL, RAB7A, (AKAP9,ANK2,CACNA1C,CACNB2,CASQ2,CAV3,DSC2,DSG2,DSP,GPD1L,JUP,KCNA5,KCNE1,KCNE2, SLC12A6, TRPV4, YARS) KCNE3,KCNH2,KCNJ2,KCNQ1,NPPA,PKP2,PLN,RYR2,SCN1B,SCN3B,SCN4B,SCN5A,SNTA1,TGFB3,T CMT neuropathy demyelinating panel (NGS Panel) (CTDP1, EGR2, FGD4, FIG4, GDPA1, GJB1, MEM43) LITAF, MTMR2, MPZ, NDRG1, NEFL, PMP22, PRPS1, PRX, SBF2, SH3TC2) Arrhythmogenic right ventricular cardiomyopathy panel (NGS Panel) (DSP, DSG2, DSC2, Coffin-Siris syndrome panel (NGS Panel) (ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1) JUP, PKP2, RYR2, TMEM43) Colon cancer and polyposis syndrome panel (NGS Panel) (APC, BMPR1A, ENG, EPCAM, FLCN, Arthrogryposis panel (NGS Panel) (TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2) MLH1, MSH2, MSH3, MSH6, MUTYH, PMS1, PMS2, PTEN, SMAD4, STK11) Ashkenazi panel (advanced) (Sanger Panel) (GBA (8 ), CFTR (26 mut), HEXA (7 Cone-rod and cone dystrophy panel (NGS Panel) (ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, mut), IKBKAP (2 mut), ASPA (4 mut), G6PC (2 mut) ABCC8 (2 mut), MCOLN1 (2 mut), BCKDHB (3 CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, mut), FANCC (2 mut), DLD (2 mut), SMPD1 (4 mut), CLRN1 (1 mut), PCDH15 (1mut), BLM (1 PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119) mut), NEB (1 mut)) Congenital ichthyosis panel (NGS Panel) (ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, PNPLA1, Ashkenazi panel (basic) (Sanger Panel) (HEXA (7 mutations), IKBKAP (2 mut), ASPA (4 mut), TGM1) MCOLN1 (2 mut), FANCC (2 mut), SMPD1 (4 mut), BLM (1 mut)) Congenital myasthenic syndrome panel (NGS Panel) (AGRN, CHAT, CHRNA1, CHRNB1, CHRND, Atypical hemolytic uremic syndrome panel (NGS Panel) (ADAMTS13, C3, CD46, CFB, CFH, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A) CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, THBD) Congenital myopathy panel (NGS Panel) (ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, Bardet Biedl panel (NGS Panel) (ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3) BBS9, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP) Cornelia de Lange syndrome panel (NGS Panel) (HDAC8, NIPBL, RAD21, SMC1A, SMC3) Bartter Syndrome panel (NGS Panel) (ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, Deafness, non-syndromic sensorineural autosomal dominant panel (NGS Panel) (ACTG1, CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, CCDC50, COCH, COL11A2, CRYM, DFNA5, DIABLO, DIAPH1, DIAPH3, DSPP, EYA4, GJB2, GJB3, GJB6, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A7, SLC4A1, SLC4A4, SLC4A5, WNK1, WNK4) GRHL2, KCNQ4, MIR96, MYH14, MYH9, MYO1A, MYO6, MYO7A, POU3F4, POU4F3, PRPS1, SIX1, Bethlem myopathy panel (NGS Panel) (COL6A1, COL6A2, COL6A3, COL12A1) SLC17A8, SMPX, TECTA, TJP2, TMC1, WFS1) Breast ovarian cancer panel (NGS Panel) (ATM, BARD1, BRIP1, CDH1, CHEK2, MRE11A, MSH6, Deafness, non-syndromic sensorineural autosomal recessive panel (NGS Panel) (CDH23, NBN, PALB2, PTEN, RAD51, RAD51C, STK11, TP53) CLDN14, COL11A2, DFNB31, DFNB59, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, Brugada syndrome panel (NGS Panel) (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, ILDR1, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, SCN1B,SCN3B, SCN5A, SLMAP) PCDH15, POU3F4, PRPS1 PTPRQ, RDX, SERPINB6, SLC12A1, SLC26A4, SLC26A5, SMPX, STRC, TECTA, Cardiomyopathy dilated panel (NGS Panel) (ABCC9, ACTC1, ACTN2, BAG3, CSRP3, DES, DMD, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C) DSG2, EYA4, FKTN, GATAD1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, PSEN1, Dejerine-Sottas syndrome panel (NGS Panel) (MPZ, PMP22, PRX, EGR2, GJB1) MT-ND1, MT-ND5, MT-ND6, MT-TD, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, Dementia panel (NGS Panel) (APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, MT-TS1, MT-TS2, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, PSEN2, SORL1, TARDBP, TREM2, UBE3A, VCP) TPM1, TTN, TTR, VCL) Cardiomyopathy hypertrophic panel (NGS Panel) (ACTC1, CALR3, CAV3, CSRP3, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL)

28 12 - Panels

Diabetes neonatal panel (NGS Panel) (ABCC8, FOXP3, G6PC2, GCK GLIS3, INS, INSR, KCNJ11, Glycosylation disorder panel (NGS Panel) (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, ALG13, NEUROG3, PDX1) B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MGAT2, MOGS, Diamond-Blackfan anemia (NGS Panel) (RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1) RPS26, RPS7) Hemophagocytic Lymphohistiocytosis panel (NGS Panel) (PRF1, UNC13D, STX11, STXBP2) Dravet syndrome panel (NGS Panel) (SCN1A, GABRG2, SCN2A, SCN9A) Hermansky-Pudlak syndrome panel (NGS Panel) (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, Dystonia panel (NGS Panel) (TOR1A, THAP1, GCH1, TH, SPR, SLC2A1, CIZ1, PRRT2, PNKD) DTNBP1, BLOC1S3) Early infantile epileptic encephalopathy panel (NGS Panel) (ARX, CDKL5, SLC25A22, Heterotaxy panel (NGS Panel) (ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, NKX2-5, STXBP1, SPTAN1, SCN1A, KCNQ2, KCNT1, ARHGEF9, PCDH19, PNKP, SCN2A, SCN8A, PLCB1) NODAL, ZIC3) Ehlers-Danlos syndrome panel (NGS Panel) (COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, Hirschsprung disease panel (NGS Panel) (ECE1, EDN3, EDNRB, GDNF, KIAA1279, NRG1, NRTN, RET, FKBP14, PLOD1, TNXB) SOX10, ZEB2) Epidermolysis bullosa panel (NGS Panel) (COL17A1, LAMA3, LAMB3, LAMC2) Holoprosencephaly panel (NGS Panel) (CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2) Epilepsy (absence) in childhood panel (NGS Panel) (CACNA1H, GABRA1, GABRB3, GABRG2, Hyperekplexia panel (NGS Panel) (ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5) JRK, SLC2A1) Infertility panel (NGS Panel) (LHB, FSHB, LHCGR, FSHR) Epilepsy (generalized) with febrile seizures panel (NGS Panel) (GABRD, GABRG2, SCN1A, Joubert syndrome panel (NGS Panel) (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, SCN1B, SCN2A, SCN9A) CEP41, EXOC8, INPP5E, KIF7, MSK1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, Epilepsy (partial) hereditary panel (NGS Panel) (CACNA1H, CACNB4, CHRNA2, CHRNA4, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423) CHRNB2, CLCN2, CPA6, DEPDC5, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, Kallmann syndrome panel (NGS Panel) (CHD7, FGFR1, FGF8, GNRHR, GNRH1, KAL1, KISS1R, PROK2, KCNQ2, KCNQ3, LGI1, MTATP6 , SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2) PROKR2, SEMA3A, TACR3) Epileptic encephalopathy panel (NGS Panel) (ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, Leber congenital amaurosis panel (NGS Panel) (AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1) KCNQ2, MAGI2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, Leber optic atrophy panel (NGS Panel) (MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND4, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, MT-ND4L, MT-ND5, MT-ND6) SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRGAP2, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2) Leigh syndrome and mitochondrial encephalopathy panel (NGS Panel) (ACAD9, ADCK3, Episodic ataxia panel (NGS Panel) (CACNA1A, CACNB4, KCNA1, SLC1A3) AIFM1, APTX, ATPAF2, BCS1L, C10ORF2, NDUFAF6, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, Familial hemiplegic migraine panel (NGS Panel) (ATP1A2, CACNA1A, SCN1A) DGUOK, DLAT, DLD, DNM1L, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LRPPRC, MPV17, Fanconi anemia panel (NGS Panel) (BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA13, NDUFAF1, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2) NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, NDUFA12, NDUFA9, Flecked retina panel (NGS Panel) (CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B) NDUFAF5, SDHA, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, RARS2, SCO1, SCO2, SDHAF1, SUCLA2, Focal Glomerulonephrosis panel (NGS Panel) (ACTN4,TRPC6,WT1,NPHS1,NPHS2,CD2AP) SUCLG1, SURF1, TACO1, TK2, TMEM70, TSFM, TTC19, TUFM, TYMP) Frontotemporal dementia panel (NGS Panel) (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , Leukodystrophy and peroxisome biogenesis disorders panel (NGS Panel) (ABCD1, AIMP1, MAPT, SIGMAR1, UBQLN2) ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, Glycogen storage disease panel (advanced) (NGS Panel) (GYS1, GYS2, G6PC, SLC37A4, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSPD1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX12, PEX13, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, GYG1, PRKAG2, PHKG2) RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SDHA, SLC16A2, SOX10, SUMF1, TREM2, Glycogen storage disease panel (basic) (NGS Panel) (G6PC, SLC37A4, AGL, GBE1) TREX1, HSD17B4, LMNB1, PEX11B, PHYH, SCP2, SDHAF1, TYROBP) Limb-girdle muscular dystrophy panel (NGS Panel) (ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN (hot Spot testing)) Lissencephaly panel (NGS Panel) (ARX, DCX, NDE1, PAFAH1B1, RELN, TUBA1A, YWHAE) Long QT syndrome panel (NGS Panel) (AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1) Lysosomal storage disease panel (NGS Panel) (ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1) Malignant hyperthermia panel (NGS Panel) (CACNA1S, RYR1)

29 12 - Panels

Maple syrup urine disease panel (NGS Panel) (BCKDHA, BCKDHB, DBT, DLD) Noonan - CFC syndrome panel (NGS Panel) (BRAF, CBL, HRAS, MAP2K1, KRAS, MAP2K2, NF1, NRAS, Marfan syndrome and related disorders panel (NGS Panel) RAF1, PTPN11, SHOC2, SOS1, SPRED1) (ACTA2,COL3A1,COL5A1,COL5A2,FBN1,FBN2,MYH11,SLC2A10,SMAD3,TGFBR1,TGFBR2) Oculomotor apraxia panel (NGS Panel) (APTX, PIK3R5, SETX) Megaloblastic anemia panel (NGS Panel) (AMN, CUBN, GIF) Ophthalmoplegia (progressive external) panel (NGS Panel) (C10ORF2, OPA1, POLG1, POLG2, Mental retardation, X-linked panel (NGS Panel) RRM2B, SLC25A4, TYMP) (ABCD1,ACSL4,AFF2,AGTR2,AP1S2,ARHGEF6,ARHGEF9,ARX,ATP6AP2,ATP7A,ATRX, Optic atrophy panel (NGS Panel) (AUH, C12ORF65, CISD2, NDUFS1, OPA1, OPA3, POLG, SPG7, BCOR,BRWD3,CASK,CDKL5,CUL4B,DCX,DKC1,DLG3,ELK1,FANCB,FGD1,FLNA, TIMM8A, TMEM126A, WFS1) FMR1,FTSJ1,GDI1,GK,GPC3,GRIA3,HCCS,HPRT1,HSD17B10,HUWE1,IDS,IGBP1, Osteogenesis imperfecta panel (NGS Panel) (COL1A1, COL1A2, IFITM5) IL1RAPL1,KIAA2022,KDM5C,KLF8,L1CAM,LAMP2,MAGT1,MAOA,MBTPS2,MECP2, Osteogenesis imperfecta panel, autosomal recessive (NGS Panel) (BMP1, CRTAP, FKBP10, MED12,MID1,MTM1,NDP,NDUFA1,NHS,NLGN3,NLGN4X,NSDHL,NXF5,OCRL, LEPRE1, PLOD2, PPIB, SERPINH1, SP7) OFD1,OPHN1,OTC,PAK3,PCDH19,PDHA1,PGK1,PHF6,PHF8,PLP1,PORCN,PQBP1, Osteopetrosis panel (NGS Panel) (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, PRPS1,RAB39B,RPL10,RPS6KA3,SHROOM4,SLC16A2,SLC6A8,SLC9A6,SMC1A, TNFRSF11A) SMS,SOX3,SRPX2,SYN1,SYP,TIMM8A,TSPAN7,UBE2A,UPF3B,ZCCHC12,ZDHHC9, Pancreatitis panel (NGS Panel) (PRSS1, SPINK1, CFTR, CTRC) ZDHHC15,ZNF41,ZNF81,ZNF674,ZNF711) Pantothenate kinase-associated neurodegeneration panel (NGS Panel) (ATP13A2, C19orf12, Metabolic panel (NGS Panel) (ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA, ETFB, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45) ETFDH, GAA, GBE1, GYG1, GYS1, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PNPLA2, Parkinsons disease panel (NGS Panel) (SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7, ATP13A2, PRKAG2, PYGM, SLC22A5, SLC25A20, TAZ) PLA2G6, FBXO7, DNAJC6) Metaphyseal dysplasia panel (NGS Panel) (ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, Pheochromocytoma panel (NGS Panel) (MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, RMRP, RUNX2) TMEM127, VHL) Microcephaly panel (NGS Panel) (AKT3, AP4M1, ASPM, CASK, CDK5RAP2, CENPJ, CEP135, Polycystic kidney panel (NGS Panel) (BICC1, PKD1, PKD2, NOTCH2, PKHD1) CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, MCPH1, MRE11A, MSMO1, NDE1, NHEJ1, Pontocerebellar hypoplasia panel (NGS Panel) (CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19, STIL, TUBB2B, TUBGCP6, WDR62) VRK1, EXOSC3, CHMP1A) Microphthalmia panel (NGS Panel) (ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2, RAX, SIX6, Refsum disease panel (NGS Panel) (PEX1, PEX2, PEX26, PEX7, PHYH) SOX2, STRA6, TENM1, TENM3, VSX2) Retinitis pigmentosa panel, autosomal dominant (NGS Panel) (ABCA4, BEST1, CA4, CRX, CLRN1, Mitochondrial dysfunctions panel (NGS Panel) (C10ORF2, DGUOK, MPV17, MT-ND1, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR, MT-ND5, MT-ND6, MT-TH, MT-TF, MT-TL1, MT-TK, MT-TP, MT-TQ, MT-TS1, MT-TS2, PC, POLG, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS) PUS1, RRM2B , SUCLA2, SUCLG1, TK2,TYMP) Retinitis pigmentosa panel, autosomal recessive (NGS Panel) (ABCA4, ARL6, BBS1, BEST1, MODY panel (NGS Panel) (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, NKX2-2, PAX4, PDX1, RFX6, ZFP57) IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RDH12, RGR, Mucopolysaccharidosis panel (NGS Panel) (IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, SEMA4A, SPATA7, TTC8, TULP1, USH2A, ZNF513) ARSB, GUSB, HYAL1, LDB3, MYOT) RYR1 (NGS Panel) (RYR1) Myofibrillar myopathy panel (NGS Panel) (BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, SCA panel (NGS Panel) (ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, BEAN1, ATN1, CACNA1A, MYOT) NOP56, PPP2R2B, TBP, AFG3L2, DNMT1, FGF14, IFRD1, ITPR1, KCNC3, KCND3, PDYN, PRKCG, SPTBN2, Myopathy-rhabdomyolysis syndrome panel (NGS Panel) (ACADL, ACADM, ACADVL, ACAD9, TGM6, TTBK2, VAMP1) AGL, AMPD1, C10orf2, CPT1B, CPT2, ETFA, ETFB, GAA, GYS1, HADHA, HADHB, LPIN1, OPA1, Seckel syndrome panel (NGS Panel) (ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP) OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, SUCLA2, TK2, TYMP) NEB (NGS Panel) (NEB) Nemaline myopathy panel (NGS Panel) (NEB, ACTA1, CFL2, MTM1, TNNT1, TPM2, TPM3) Nephronophthisis panel (NGS Panel) (NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1, CEP164, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, ZNF423) Nephrotic syndrome panel (NGS Panel) (NPHS1, NPHS2, WT1, LAMB2, DGKE, ARHGDIA) Neurofibromatosis panel (NGS Panel) (NF1, NF2) Neuronal migration disorders panel (NGS Panel) (ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, GPR56, IER3IP1, ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62)

30 12 - Panels

Spastic paraplegia panel, autosomal dominant (NGS Panel) (ATL1, BSCL2, HSPD1, Thrombocytopenia panel (NGS Panel) (ADAMTS13, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, KIAA0196, KIF5A, NIPA1, REEP1, RTN2, SLC33A1, SPAST, ZFYVE27) MASTL, MYH9, MPL, RUNX1, WAS) Spastic paraplegia panel, autosomal recessive (NGS Panel) (AP4M1, CYP2U1, CYP7B1, Tuberous sclerosis panel (NGS Panel) (TSC1, TSC2) FA2H, GJC2, KIF1A, PNPLA6, SPG11, SPG20, SPG21, SPG7, ZFYVE26) Ullrich muscular dystrophy panel (NGS Panel) (COL6A1, COL6A2, COL6A3) Spherocytosis panel (NGS Panel) (ANK1, EPB42, SLC4A1, SPTA1, SPTB) disorder panel (NGS Panel) (ARG1, ASS1, CPS1, NAGS, OTC) Stargardt disease panel (NGS Panel) (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, Vitreoretinopathy and Wagner syndrome panel (NGS Panel) (COL2A1, FZD4, LRP5, NDP, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3) TSPAN12, VCAN) Stickler syndrome panel (NGS Panel) (COL2A1, COL9A1, COL9A2, COL11A1, COL11A2) Walker-Warburg syndrome panel (NGS Panel) (FKRP, FKTN, ISPD, LARGE, POMT1, POMT2) Surfactant metabolism dysfunction panel (NGS Panel) (ABCA3, CSF2RA, CSF2RB, SFTPA1, Zellweger syndrome panel (NGS Panel) (PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, SFTPB, SFTPC, SFTPD) PEX14, PEX16, PEX19, PEX26) SYNE1 (NGS Panel) (SYNE1) SYNE2 (NGS Panel) (SYNE2)

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