Table 1. List of diseases analysed in the STID

11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia - Gene: CYP11B1. 21-hydroxylase-deficient Congenital Adrenal Hyperplasia - Gene: CYP21A2. 6-pyruvoyl-tetrahydropterin Synthase Deficiency - Gene: PTS. ABCC8-related Hyperinsulinism - Gene: ABCC8. Adenosine Deaminase Deficiency - Gene: ADA. Alpha Thalassemia - Genes: HBA1, HBA2. Alpha-mannosidosis - Gene: MAN2B1. Alpha-sarcoglycanopathy - Gene: SGCA. Alstrom Syndrome - Gene: ALMS1. AMT-related Glycine Encephalopathy - Gene: AMT. Andermann Syndrome - Gene: SLC12A6. Argininemia - Gene: ARG1. Argininosuccinic Aciduria - Gene: ASL. ARSACS - Gene: SACS. Aspartylglycosaminuria - Gene: AGA. Ataxia with Vitamin E Deficiency - Gene: TTPA. Ataxia-telangiectasia - Gene: ATM. ATP7A-related Disorders - Gene: ATP7A. Autosomal Recessive Osteopetrosis Type 1 - Gene: TCIRG1. Bardet-Biedl Syndrome, BBS1-related - Gene: BBS1. Bardet-Biedl Syndrome, BBS10-related - Gene: BBS10. Bardet-Biedl Syndrome, BBS12-related - Gene: BBS12. Bardet-Biedl Syndrome, BBS2-related - Gene: BBS2. Beta-sarcoglycanopathy - Gene: SGCB. Biotinidase Deficiency - Gene: BTD. Bloom Syndrome - Gene: BLM. Calpainopathy - Gene: CAPN3. Canavan Disease - Gene: ASPA. Carbamoylphosphate Synthetase 1 Deficiency - Gene: CPS1. Carnitine Palmitoyltransferase 1A Deficiency - Gene: CPT1A. Carnitine Palmitoyltransferase 2 Deficiency - Gene: CPT2. Cartilage-hair Hypoplasia - Gene: RMRP. Cerebrotendinous Xanthomatosis - Gene: CYP27A1. Citrullinemia Type 1 - Gene: ASS1. CLN3-related Neuronal Ceroid Lipofuscinosis - Gene: CLN3. CLN5-related Neuronal Ceroid Lipofuscinosis - Gene: CLN5. CLN6-related Neuronal Ceroid Lipofuscinosis - Gene: CLN6. Cohen Syndrome - Gene: VPS13B. COL4A3-related Alport Syndrome - Gene: COL4A3. COL4A4-related Alport Syndrome - Gene: COL4A4. Congenital Disorder of Glycosylation Type 1A - Gene: PMM2. Congenital Disorder of Glycosylation Type 1B - Gene: MPI. Congenital Disorder of Glycosylation Type 1C - Gene: ALG6. Congenital Finnish Nephrosis - Gene: NPHS1. Costeff Optic Atrophy Syndrome - Gene: OPA3. Cystic Fibrosis - Gene: CFTR. Cystinosis - Gene: CTNS. D-bifunctional Protein Deficiency - Gene: HSD17B4. Delta-sarcoglycanopathy - Gene: SGCD. Dysferlinopathy - Gene: DYSF. Dystrophinopathy (Including Duchenne/Becker Muscular Dystrophy) - Gene: DMD GENDIA – Genetic Diagnostic Network Phone : + 32 3 303 08 01 Emiel Vloorsstraat 9 Fax : + 32 3 238 77 70 B-2020 Antwerp E-mail : [email protected] Belgium Web : www.GENDIA.net

ERCC6-related Disorders - Gene: ERCC6. ERCC8-related Disorders - Gene: ERCC8. EVC-related Ellis-van Creveld Syndrome - Gene: EVC. EVC2-related Ellis-van Creveld Syndrome - Gene: EVC2. Fabry Disease - Gene: GLA. Familial Dysautonomia - Gene: IKBKAP. Familial Mediterranean Fever - Gene: MEFV. Fanconi Anemia Complementation Group A - Gene: FANCA. Fanconi Anemia Type C - Gene: FANCC. FKRP-related Disorders - Gene: FKRP. FKTN-related Disorders - Gene: FKTN. Fragile X Syndrome - Gene: FMR1. Galactokinase Deficiency - Gene: GALK1. Galactosemia - Gene: GALT. Gamma-sarcoglycanopathy - Gene: SGCG. Gaucher Disease - Gene: GBA. GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness - Gene: GJB2. GLB1-related Disorders - Gene: GLB1. GLDC-related Glycine Encephalopathy - Gene: GLDC. Glutaric Acidemia Type 1 - Gene: GCDH. Glycogen Storage Disease Type 1A - Gene: G6PC. Glycogen Storage Disease Type 1B - Gene: SLC37A4. Glycogen Storage Disease Type 3 - Gene: AGL. GNPTAB-related Disorders - Gene: GNPTAB. GRACILE Syndrome - Gene: BCS1L. HADHA-related Disorders - Gene: HADHA. Hb Beta Chain-related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease) - Gene: HBB. Hereditary Fructose Intolerance - Gene: ALDOB. Herlitz Junctional Epidermolysis Bullosa, LAMA3-related - Gene: LAMA3. Herlitz Junctional Epidermolysis Bullosa, LAMB3-related - Gene: LAMB3. Herlitz Junctional Epidermolysis Bullosa, LAMC2-related - Gene: LAMC2. Hexosaminidase A Deficiency (Including Tay-Sachs Disease) - Gene: HEXA. HMG-CoA Lyase Deficiency - Gene: HMGCL. Holocarboxylase Synthetase Deficiency - Gene: HLCS. Homocystinuria Caused by Cystathionine Beta-synthase Deficiency - Gene: CBS Hydrolethalus Syndrome - Gene: HYLS1. Hypophosphatasia, Autosomal Recessive - Gene: ALPL. Inclusion Body Myopathy 2 - Gene: GNE. Isovaleric Acidemia - Gene: IVD. Joubert Syndrome Type 2 - Gene: TMEM216. KCNJ11-related Familial Hyperinsulinism - Gene: KCNJ11. Krabbe Disease - Gene: GALC. LAMA2-related Muscular Dystrophy - Gene: LAMA2. Leigh Syndrome, French-Canadian Type - Gene: LRPPRC. Lipoamide Dehydrogenase Deficiency - Gene: DLD. Lipoid Congenital Adrenal Hyperplasia - Gene: STAR. Lysosomal Acid Lipase Deficiency - Gene: LIPA. Maple Syrup Urine Disease Type 1A - Gene: BCKDHA. Maple Syrup Urine Disease Type 1B - Gene: BCKDHB. Maple Syrup Urine Disease Type 2 - Gene: DBT. Medium Chain Acyl-CoA Dehydrogenase Deficiency - Gene: ACADM. Megalencephalic Leukoencephalopathy with Subcortical Cysts - Gene: MLC1. Metachromatic Leukodystrophy - Gene: ARSA. Methylmalonic Acidemia, Type cblA - Gene: MMAA. Methylmalonic Acidemia, Type cblB - Gene: MMAB. Methylmalonic Aciduria and Homocystinuria, cblC Type - Gene: MMACHC.

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MKS1-related Disorders - Gene: MKS1. Mucolipidosis Type 3 Gamma - Gene: GNPTG. Mucolipidosis Type 4 - Gene: MCOLN1. Mucopolysaccharidosis Type 1 - Gene: IDUA. Mucopolysaccharidosis Type 2 - Gene: IDS. Mucopolysaccharidosis Type 3A - Gene: SGSH. Mucopolysaccharidosis Type 3B - Gene: NAGLU. Mucopolysaccharidosis Type 3C - Gene: HGSNAT. Muscle-eye-brain Disease - Gene: POMGNT1. MUT-related Methylmalonic Acidemia - Gene: MUT. MYO7A-related Disorders - Gene: MYO7A. NEB-related Nemaline Myopathy - Gene: NEB. Nephrotic Syndrome, NPHS2-related - Gene: NPHS2. Niemann-Pick Disease Type C - Gene: NPC1. Niemann-Pick Disease Type C2 - Gene: NPC2. Niemann-Pick Disease, SMPD1-associated - Gene: SMPD1. Nijmegen Breakage Syndrome - Gene: NBN. Northern Epilepsy - Gene: CLN8. Ornithine Transcarbamylase Deficiency - Gene: OTC. PCCA-related Propionic Acidemia - Gene: PCCA. PCCB-related Propionic Acidemia - Gene: PCCB. PCDH15-related Disorders - Gene: PCDH15. Pendred Syndrome - Gene: SLC26A4. Peroxisome Biogenesis Disorder Type 3 - Gene: PEX12. Peroxisome Biogenesis Disorder Type 4 - Gene: PEX6. Peroxisome Biogenesis Disorder Type 5 - Gene: PEX2. Peroxisome Biogenesis Disorder Type 6 - Gene: PEX10. PEX1-related Zellweger Syndrome Spectrum - Gene: PEX1. Phenylalanine Hydroxylase Deficiency - Gene: PAH. PKHD1-related Autosomal Recessive Polycystic Kidney Disease - Gene: PKHD1. Polyglandular Autoimmune Syndrome Type 1 - Gene: AIRE. Pompe Disease - Gene: GAA. Primary Carnitine Deficiency - Gene: SLC22A5. Primary Hyperoxaluria Type 1 - Gene: AGXT. Primary Hyperoxaluria Type 2 - Gene: GRHPR. Primary Hyperoxaluria Type 3 - Gene: HOGA1. PROP1-related Combined Pituitary Hormone Deficiency - Gene: PROP1. Pycnodysostosis - Gene: CTSK. Pyruvate Carboxylase Deficiency - Gene: PC. Rhizomelic Chondrodysplasia Punctata Type 1 - Gene: PEX7. RTEL1-related Disorders - Gene: RTEL1. Salla Disease - Gene: SLC17A5. Sandhoff Disease - Gene: HEXB. Segawa Syndrome - Gene: TH. Short Chain Acyl-CoA Dehydrogenase Deficiency - Gene: ACADS. Sjogren-Larsson Syndrome - Gene: ALDH3A2. Smith-Lemli-Opitz Syndrome - Gene: DHCR7. Spastic Paraplegia Type 15 - Gene: ZFYVE26. Spinal Muscular Atrophy - Gene: SMN1. Spondylothoracic Dysostosis - Gene: MESP2. Sulfate Transporter-related Osteochondrodysplasia - Gene: SLC26A2. TGM1-related Autosomal Recessive Congenital Ichthyosis - Gene: TGM1. TPP1-related Neuronal Ceroid Lipofuscinosis - Gene: TPP1. Autosomal Recessive.Tyrosinemia Type 1 - Gene: FAH. Tyrosinemia Type 2 - Gene: TAT. USH1C-related Disorders - Gene: USH1C. USH2A-related Disorders - Gene: USH2A. Usher Syndrome Type 3 - Gene: CLRN1.

GENDIA – Genetic Diagnostic Network Phone : + 32 3 303 08 01 Emiel Vloorsstraat 9 Fax : + 32 3 238 77 70 B-2020 Antwerp E-mail : [email protected] Belgium Web : www.GENDIA.net

Very Long Chain Acyl-CoA Dehydrogenase Deficiency - Gene: ACADVL. Wilson Disease - Gene: ATP7B. X-linked Adrenoleukodystrophy - Gene: ABCD1. X-linked Alport Syndrome - Gene: COL4A5. X-linked Congenital Adrenal Hypoplasia - Gene: NR0B1. X-linked Juvenile Retinoschisis - Gene: RS1. X-linked Myotubular Myopathy - Gene: MTM1. X-linked Severe Combined Immunodeficiency - Gene: IL2RG. Xeroderma Pigmentosum Group A - Gene: XPA. Xeroderma Pigmentosum Group C - Gene: XPC.

GENDIA – Genetic Diagnostic Network Phone : + 32 3 303 08 01 Emiel Vloorsstraat 9 Fax : + 32 3 238 77 70 B-2020 Antwerp E-mail : [email protected] Belgium Web : www.GENDIA.net