METABOLIC DISORDERS GENE PANEL

Transcription

1 METABOLIC DISORDERS GENE PANEL Gene Depth Coverage OMIM symbol (reads) (avg %) disease Description AASS Hyperlysinemia ABAT GABA-transaminase deficiency ABCD Adrenoleukodystrophy ABCD Methylmalonic aciduria and homocystinuria cblj type ABCG Sitosterolemia ABCG Gallbladder disease 4 ABHD Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract ABHD Chanarin-Dorfman syndrome ACACA Acetyl-CoA carboxylase deficiency ACAD Isobutyryl-CoA dehydrogenase deficiency ACAD ACAD9 deficiency ACADM Acyl-CoA dehydrogenase medium chain deficiency of ACADS Acyl-CoA dehydrogenase short-chain deficiency of ACADSB methylbutyrylglycinuria ACADVL VLCAD deficiency ACAT Alpha-methylacetoacetic aciduria ACAT ACAT2 deficiency ACO Infantile cerebellar-retinal degeneration ACOX Peroxisomal acyl-coa oxidase deficiency ACSF Combined malonic and methylmalonic aciduria ACSL Mental retardation X-linked 63 ACY Aminoacylase 1 deficiency ADA Adenosine deaminase deficiency partial ADCY Dyskinesia familial with facial myokymia ADK Hypermethioninemia due to adenosine kinase deficiency ADSL Adenylosuccinase deficiency AGA Aspartylglucosaminuria AGK Cataract 38 autosomal recessive

2 AGL Glycogen storage disease IIIa AGPAT Lipodystrophy congenital generalized type 1 AGPS Rhizomelic chondrodysplasia punctata type 3 AGXT Hyperoxaluria primary type 1 AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase AK Hemolytic anemia due to adenylate kinase deficiency AK Reticular dysgenesis AKR1D Bile acid synthesis defect congenital 2 ALAD Porphyria acute hepatic ALAS Anemia sideroblastic X-linked ALDH18A Cutis laxa autosomal recessive type IIIA ALDH1A Microphthalmia isolated 8 ALDH Alcohol sensitivity acute ALDH3A Sjogren-Larsson syndrome ALDH4A Hyperprolinemia type II ALDH5A Succinic semialdehyde dehydrogenase deficiency ALDH6A Methylmalonate semialdehyde dehydrogenase deficiency ALDH7A Epilepsy pyridoxine-dependent ALDOA Glycogen storage disease XII ALDOB Fructose intolerance ALG Congenital disorder of glycosylation type Ik ALG {Acquired long QT syndrome, reduced susceptibility to} ALG Congenital disorder of glycosylation type Ip ALG Congenital disorder of glycosylation type Ig ALG Congenital disorder of glycosylation type Is ALG Congenital disorder of glycosylation type Ii ALG Congenital disorder of glycosylation type Id ALG Congenital disorder of glycosylation type Ic ALG Congenital disorder of glycosylation type Ih ALG Congenital disorder of glycosylation type Il ALOX12B Ichthyosis congenital autosomal recessive 2 ALPL Hypophosphatasia adult AMACR Alpha-methylacyl-CoA racemase deficiency

3 AMN Megaloblastic anemia-1 Norwegian type AMPD [AMP deaminase deficiency, erythrocytic] AMT Glycine encephalopathy AP1S MEDNIK syndrome APOC Hyperlipoproteinemia type Ib APRT Adenine phosphoribosyltransferase deficiency ARG Argininemia ARSA Metachromatic leukodystrophy ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy) ASAH Farber lipogranulomatosis ASL Argininosuccinic aciduria ASPA Canavan disease ASS Citrullinemia ATIC AICA-ribosiduria due to ATIC deficiency ATP6V0A Cutis laxa autosomal recessive type IIA ATP7A Menkes disease ATP7B Wilson disease ATP8B Cholestasis benign recurrent intrahepatic AUH methylglutaconic aciduria type I B3GALNT [Blood group, globoside system] B3GALNT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type A 11 B3GALTL Peters-plus syndrome B3GAT Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects B3GNT B4GALT Congenital disorder of glycosylation type IId B4GALT Ehlers-Danlos syndrome progeroid type 1 BAAT Hypercholanemia familial BCKDHA Maple syrup urine disease type Ia BCKDHB Maple syrup urine disease type Ib BCMO Hypercarotenemia and vitamin A deficiency autosomal dominant BLVRA Hyperbiliverdinemia BMP Brachydactyly type A2 BPGM Erythrocytosis due to bisphosphoglycerate mutase deficiency

4 BTD Biotinidase deficiency C1GALT1C Tn polyagglutination syndrome somatic C7orf [Glutaric aciduria III] CANT Desbuquois dysplasia CAT Acatalasemia CBS Homocystinuria B6-responsive and nonresponsive types CEL Maturity-onset diabetes of the young type VIII CERKL Retinitis pigmentosa 26 CERS Ichthyosis congenital autosomal recessive 9 CFTR Congenital bilateral absence of vas deferens CHIT [Chitotriosidase deficiency] CHKB Muscular dystrophy congenital megaconial type CHST Ehlers-Danlos syndrome musculocontractural type CHST Spondyloepiphyseal dysplasia with congenital joint dislocations CHST Macular corneal dystrophy CHSY Temtamy preaxial brachydactyly syndrome CLN Ceroid lipofuscinosis neuronal 3 CLN Ceroid lipofuscinosis neuronal 5 CLN Ceroid lipofuscinosis neuronal 6 CLN Ceroid lipofuscinosis neuronal 8 CLPB Dystonia-1, torsion COG Congenital disorder of glycosylation type IIg COG Congenital disorder of glycosylation type IIj COG Congenital disorder of glycosylation type IIi COG Shaheen syndrome COG Congenital disorder of glycosylation type IIe COG Congenital disorder of glycosylation type IIh COMT {Schizophrenia, susceptibility to} CP Cerebellar ataxia CPOX Coproporphyria CPS Carbamoylphosphate synthetase I deficiency CPT1A CPT deficiency hepatic type IA CPT CPT deficiency hepatic type II

5 CTH Cystathioninuria CTNS Cystinosis atypical nephropathic CTSA Galactosialidosis CTSC Haim-Munk syndrome CTSD Ceroid lipofuscinosis neuronal 10 CTSK Pycnodysostosis CUBN Megaloblastic anemia-1 Finnish type CYB5R Methemoglobinemia type I CYP11A Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete CYP11B Adrenal hyperplasia congenital due to 11-beta-hydroxylase deficiency CYP11B CYP17A lyase deficiency isolated CYP19A Aromatase deficiency CYP1B Glaucoma 3A primary open angle congenital juvenile or adult onset CYP21A Adrenal hyperplasia congenital due to 21-hydroxylase deficiency CYP27A Cerebrotendinous xanthomatosis CYP27B Vitamin D-dependent rickets type I CYP2R Rickets due to defect in vitamin D 25-hydroxylation CYP2U Spastic paraplegia 56 autosomal recessive CYP7B Bile acid synthesis defect congenital 3 D2HGDH D-2-hydroxyglutaric aciduria DAO {Schizophrenia} DBH Dopamine beta-hydroxylase deficiency DBT Maple syrup urine disease type II DCXR Pentosuria DDC Aromatic L-amino acid decarboxylase deficiency DDHD Spastic paraplegia 28 autosomal recessive DDOST Congenital disorder of glycosylation type Ir DGAT DGKE Nephrotic syndrome type 7 DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) DHCR Desmosterolosis DHCR Smith-Lemli-Opitz syndrome

6 DHFR Megaloblastic anemia due to dihydrofolate reductase deficiency DHODH Miller syndrome DLD Dihydrolipoamide dehydrogenase deficiency DMGDH Dimethylglycine dehydrogenase deficiency DNAJC methylglutaconic aciduria type V DNM1L Encephalopahty lethal due to defective mitochondrial peroxisomal fission DNM Charcot-Marie-Tooth disease axonal type 2M DNMT Cerebellar ataxia deafness and narcolepsy autosomal dominant DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOLK Congenital disorder of glycosylation, type Im DPAGT Congenital disorder of glycosylation type Ij DPM Congenital disorder of glycosylation type Ie DPM Congenital disorder of glycosylation type Iu DPM Congenital disorder of glycosylation type Io DPYD fluorouracil toxicity DPYS Dihydropyrimidinuria EBP Chondrodysplasia punctata X-linked dominant ECHS ELOVL Ichthyosis spastic quadriplegia and mental retardation ENO Glycogen storage disease XIII EPHX Hypercholanemia familial EPHX {Hypercholesterolemia, familial, due to LDLR defect, modifier of} ETFA Glutaric acidemia IIA ETFB Glutaric acidemia IIB ETFDH Glutaric acidemia IIC ETHE Ethylmalonic encephalopathy EXT Chondrosarcoma EXT Exostoses multiple type 2 FA2H Spastic paraplegia 35 autosomal recessive FAH Tyrosinemia type I FBP Fructose-16-bidphosphatase deficiency FECH Protoporphyria erythropoietic autosomal recessive FH Fumarase deficiency

7 FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 5 FKTN Cardiomyopathy dilated 1X FMO Trimethylaminuria FOLR Neurodegeneration due to cerebral folate transport deficiency FTCD Glutamate formiminotransferase deficiency FUCA Fucosidosis FUT {Vitamin B12 plasma level QTL1} FUT Fucosyltransferase 6 deficiency G6PC Glycogen storage disease Ia G6PC Dursun syndrome G6PD Favism GAA Glycogen storage disease II GAD Cerebral palsy spastic quadriplegic 1 GALC Krabbe disease GALE Galactose epimerase deficiency GALK Galactokinase deficiency with cataracts GALNS Mucopolysaccharidosis IVA GALT Galactosemia GAMT Cerebral creatine deficiency syndrome 2 GATM Cerebral creatine deficiency syndrome 3 GBA Gaucher disease perinatal lethal GBA Spastic paraplegia 46 autosomal recessive GBE Glycogen storage disease IV GCDH Glutaricaciduria type I GCH Dystonia DOPA-responsive with or without hyperphenylalaninemia GCK Diabetes mellitus gestational GCLC Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency GCLM GCSH Glycine encephalopathy GFPT Myasthenia congenital with tubular aggregates 1 GK Glycerol kinase deficiency GLA Fabry disease GLB GM1-gangliosidosis type I

8 GLDC Glycine encephalopathy GLRA Hyperekplexia hereditary 1 autosomal dominant or recessive GLRX Anemia sideroblastic pyridoxine-refractory autosomal recessive GLUD Hyperinsulinism-hyperammonemia syndrome GLUL Glutamine deficiency congenital GLYCTK D-glyceric aciduria GM2A GM2-gangliosidosis AB variant GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 14 GMPS Leukemia acute myelogenous GNE Inclusion body myopathy autosomal recessive GNMT Glycine N-methyltransferase deficiency GNPAT Chondrodysplasia punctata rhizomelic type 2 GNPTAB Mucolipidosis II alpha/beta GNPTG Mucolipidosis III gamma GNS Mucopolysaccharidosis type IIID GOT Aspartate aminotransferase serum level of QTL1 GPD Hypertriglyceridemia transient infantile GPD1L Brugada syndrome 2 GPHN Molybdenum cofactor deficiency type C GPI Hemolytic anemia nonspherocytic due to glucose phosphate isomerase deficiency GPX Hemolytic anemia due to glutathione peroxidase deficiency GRHPR Hyperoxaluria primary type II GSS Glutathione synthetase deficiency GUSB Mucopolysaccharidosis VII GYG Glycogen storage disease XV GYS Glycogen storage disease 0 muscle GYS Glycogen storage disease type 0 H6PD Cortisone reductase deficiency 1 HADH Hyperinsulinemic hypoglycemia, familial, 4 HADHA Fatty liver acute of pregnancy HADHB Trifunctional protein deficiency HAGH [Glyoxalase II deficiency] HEXA GM2-gangliosidosis several forms

9 HEXB Sandhoff disease infantile juvenile and adult forms HFE Hemochromatosis HGD Alkaptonuria HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C) HIBADH HIBCH hydroxyisobutryl-CoA hydrolase deficiency HK Hemolytic anemia due to hexokinase deficiency HLCS Holocarboxylase synthetase deficiency HMBS Porphyria acute intermittent HMGCL HMG-CoA lyase deficiency HMGCS HMG-CoA synthase-2 deficiency HMOX Heme oxygenase-1 deficiency HOGA Hyperoxaluria primary type III HPD Hawkinsinuria HPRT HPRT-related gout HS6ST {Hypogonadotropic hypogonadism 15 with or without anosmia} HSD11B Cortisone reductase deficiency 2 HSD11B Apparent mineralocorticoid excess HSD17B beta-hydroxysteroid dehydrogenase X deficiency HSD17B Pseudohermaphroditism male with gynecomastia HSD17B D-bifunctional protein deficiency HSD3B beta-hydroxysteroid dehydrogenase type II deficiency HSD3B Bile acid synthesis defect congenital 1 HYAL Mucopolysaccharidosis type IX IDH D-2-hydrosyglutaric aciduria 2 IDH3B Retinitis pigmentosa 46 IDS Mucopolysaccharidosis II IDUA Mucopolysaccharidosis Ih IMPAD Chondrodysplasia with joint dislocations GRAPP type IMPDH Leber congenital amaurosis 11 INPP5E Joubert syndrome 1 INPPL Opsismodysplasia ISPD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 7

10 IVD Isovaleric acidemia KMT2A KMT2D Kabuki syndrome 1 L2HGDH L-2-hydroxyglutaric aciduria LAMP Danon disease LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 6 LCAT Fish-eye disease LCT Lactase deficiency congenital LDHA Glycogen storage disease XI LDHB Lactate dehydrogenase-b deficiency LFNG Spondylocostal dysostosis autosomal recessive 3 LIPA Cholesteryl ester storage disease LIPC Hepatic lipase deficiency LMBRD Methylmalonic aciduria and homocystinuria cblf type LPIN Myoglobinuria acute recurrent autosomal recessive LPIN Majeed syndrome LPL Combined hyperlipidemia familial LRAT Leber congenital amaurosis 14 LTC4S Leukotriene C4 synthase deficiency LYST Chediak-Higashi syndrome MAN1B Mental retardation autosomal recessive 15 MAN2B Mannosidosis alpha- types I and II MANBA Mannosidosis beta MAOA Brunner syndrome MAT1A Hypermethioninemia persistent autosomal dominant due to methionine adenosyltransferase I/III deficiency MCCC Methylcrotonyl-CoA carboxylase 1 deficiency MCCC Methylcrotonyl-CoA carboxylase 2 deficiency MCEE Methylmalonyl-CoA epimerase deficiency MCOLN Mucolipidosis IV MFSD Ceroid lipofuscinosis neuronal 7 MGAT Congenital disorder of glycosylation type IIa MINPP Thyroid carcinoma follicular MLYCD Malonyl-CoA decarboxylase deficiency

11 MMAA Methylmalonic aciduria vitamin B12-responsive MMAB 90 Methylmalonic aciduria vitamin B12-responsive due to defect in synthesis of adenosylcobalamin cblb complementation type MMACHC Methylmalonic aciduria and homocystinuria cblc type MMADHC Methylmalonic aciduria and homocystinuria, cbld type MMADHC Methylmalonic aciduria, cbld type, variant 2 MOCS Molybdenum cofactor deficiency type A MOCS Molybdenum cofactor deficiency type B MOGS Congenital disorder of glycosylation, type IIb MPDU Congenital disorder of glycosylation type If MPI Congenital disorder of glycosylation type Ib MSMO MTHFD {Abruptio placentae, susceptibility to} MTHFD {Spina bifida, folate-sensitive, susceptibility to} MTHFR Homocystinuria due to MTHFR deficiency MTM Myotubular myopathy X-linked MTMR Charcot-Marie-Tooth disease type 4B1 MTR Homocystinuria-megaloblastic anemia cblg complementation type MTRR Homocystinuria-megaloblastic anemia cbl E type MUT Methylmalonic aciduria mut(0) type MVK Hyper-IgD syndrome NAGA Kanzaki disease NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B) NAGS N-acetylglutamate synthase deficiency NEU Sialidosis type I NMNAT Leber congenital amaurosis 9 NNT Glucocorticoid deficiency 4 NPC Niemann-Pick disease type C1 NPC Niemann-pick disease type C2 NSD Beckwith-Wiedemann syndrome NSDHL CHILD syndrome NT5C3A Anemia, hemolytic, due to UMPH1 deficiency NT5E Calcification of joints and arteries

12 OAT Gyrate atrophy of choroid and retina with or without ornithinemia OCRL Dent disease 2 OPA methylglutaconic aciduria type III OPLAH oxoprolinase deficiency OTC Ornithine transcarbamylase deficiency OXCT Succinyl CoA:3-oxoacid CoA transferase deficiency PAH Phenylketonuria PANK HARP syndrome PC Pyruvate carboxylase deficiency PCBD Hyperphenylalaninemia, BH4-deficient, D PCCA Propionicacidemia PCCB Propionicacidemia PEPD Prolidase deficiency PEX Peroxisome biogenesis disorder 1A (Zellweger) PEX Peroxisome biogenesis disorder 6A (Zellweger) PEX11B Peroxisome biogenesis disorder 14B PEX Peroxisome biogenesis disorder 3A (Zellweger) PEX Peroxisome biogenesis disorder 11A (Zellweger) PEX Peroxisome biogenesis disorder 13A (Zellweger) PEX Peroxisome biogenesis disorder 8A (Zellweger) PEX Peroxisome biogenesis disorder 12A (Zellweger) PEX Peroxisome biogenesis disorder 5B PEX Peroxisome biogenesis disorder 5A (Zellweger) PEX Peroxisome biogenesis disorder 7A (Zellweger) PEX Peroxisome biogenesis disorder 10A (Zellweger) PEX Peroxisome biogenesis disorder 2A (Zellweger) PEX Peroxisome biogenesis disorder 4A (Zellweger) PEX Peroxisome biogenesis disorder 9B PFKM Glycogen storage disease VII PGAM Glycogen storage disease X PGAP Hyperphosphatasia with mental retardation syndrome 3 PGK Phosphoglycerate kinase 1 deficiency PGM Congenital disorder of glycosylation type It

13 PHGDH Phosphoglycerate dehydrogenase deficiency PHKA Muscle glycogenosis PHKA Glycogen storage disease type IXa1 PHYH Refsum disease PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2 PIGL CHIME syndrome PIGM Glycosylphosphatidylinositol deficiency PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGO Hyperphosphatasia with mental retardation syndrome 2 PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3 PIGV Hyperphosphatasia with mental retardation syndrome 1 PIK3CA Breast cancer somatic PIK3R Agammaglobulinemia 7 autosomal recessive PIK3R Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome PIK3R Ataxia-oculomotor apraxia 3 PIKFYVE Corneal fleck dystrophy PIP5K1C Lethal congenital contractural syndrome 3 PKLR Adenosine triphosphate elevated of erythrocytes PLA2G Fleck retina familial benign PLA2G Infantile neuroaxonal dystrophy 1 PLA2G Platelet-activating factor acetylhydrolase deficiency PLCB Epileptic encephalopathy early infantile 12 PLCB Auriculocondylar syndrome 2 PLCD Nail disorder nonsyndromic congenital 3 (leukonychia) PLCE Nephrotic syndrome type 3 PLCG Autoinflammation antibody deficiency and immune dysregulation syndrome PLIN Lipodystrophy familial partial type 4 PLOD Ehlers-Danlos syndrome type VI PLOD Bruck syndrome 2 PLOD Lysyl hydroxylase 3 deficiency PMM Congenital disorder of glycosylation type Ia PNLIP Pancreatic lipase deficiency PNMT Hypertension, essential

14 PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency PNPLA Neutral lipid storage disease with myopathy PNPLA Spastic paraplegia 39 autosomal recessive PNPO Pyridoxamine 5-phosphate oxidase deficiency POLR3A Leukodystrophy hypomyelinating 7 with or without oligodontia and/or hypogonadotropic hypogonadism POLR3B Leukodystrophy hypomyelinating 8 with or without oligodontia and/or hypogonadotropic hypogonadism POMGNT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 3 POMGNT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 POMK POMT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 1 POMT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 2 PPM1K Maple syrup urine disease mild variant PPOX Porphyria variegata PPT Ceroid lipofuscinosis neuronal 1 PRODH Hyperprolinemia type I PRPS Arts syndrome PSAP Combined SAP deficiency PSAT Phosphoserine aminotransferase deficiency PSPH Phosphoserine phosphatase deficiency PTEN Bannayan-Riley-Ruvalcaba syndrome PTGIS Hypertension essential PTPN LEOPARD syndrome 1 PTS Hyperphenylalaninemia BH4-deficient A PYCR Cutis laxa autosomal recessive type IIB PYGL Glycogen storage disease VI PYGM McArdle disease QDPR Hyperphenylalaninemia BH4-deficient C RDH Leber congenital amaurosis 13 RDH Fundus albipunctatus RFT Congenital disorder of glycosylation type In RPE Leber congenital amaurosis 2 RPIA Ribose 5-phosphate isomerase deficiency SARDH [Sarcosinemia]

15 SAT Keratosis follicularis spinulosa decalvans SC5D Lathosterolosis SCARB Epilepsy progressive myoclonic 4 with or without renal failure SCP Leukoencephalopathy with dystonia and motor neuropathy SEPSECS Pontocerebellar hypoplasia type 2D SERAC methylglutaconic aciduria with deafness encephalopathy and Leigh-like syndrome SGSH Mucopolysaccharidisis type IIIA (Sanfilippo A) SI Sucrase-isomaltase deficiency congenital SLC16A Erythrocyte lactate transporter defect SLC17A Salla disease SLC22A Carnitine deficiency systemic primary SLC25A Combined D-2- and L-2-hydroxyglutaric aciduria SLC25A Citrullinemia adult-onset type II SLC25A Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome SLC25A Microcephaly Amish type SLC25A Carnitine-acylcarnitine translocase deficiency SLC25A Anemia sideroblastic pyridoxine-refractory autosomal recessive SLC2A Dystonia 9 SLC2A Fanconi-Bickel syndrome SLC30A Hypermanganesemia with dystonia polycythemia and cirrhosis SLC33A Congenital cataracts hearing loss and neurodegeneration SLC35A Congenital disorder of glycosylation type IIf SLC35C Congenital disorder of glycosylation type IIc SLC37A Glycogen storage disease Ib SLC39A Acrodermatitis enteropathica SLC3A Cystinuria SLC46A Folate malabsorption hereditary SLC52A Riboflavin deficiency SLC52A Brown-Vialetto-Van Laere syndrome 2 SLC52A Brown-Vialetto-Van Laere syndrome 1 SLC5A Glucose/galactose malabsorption SLC5A Renal glucosuria SLC6A Cerebral creatine deficiency syndrome 1

16 SLC7A Lysinuric protein intolerance SLC7A Cystinuria SLCO1B Hyperbilirubinemia Rotor type digenic SLCO1B Hyperbilirubinemia Rotor type digenic SMPD Niemann-Pick disease type A SMS Mental retardation X-linked Snyder-Robinson type SOD Amyotrophic lateral sclerosis 1 SPR Dystonia dopa-responsive due to sepiapterin reductase deficiency SPTLC Neuropathy hereditary sensory and autonomic type IA SPTLC Neuropathy hereditary sensory and autonomic type IC SRD5A Pseudovaginal perineoscrotal hypospadias SRD5A Congenital disorder of glycosylation type Iq ST3GAL Epileptic encephalopathy early infantile 15 ST3GAL Epileptic encephalopathy early infantile 15 ST3GAL Epileptic encephalopathy early infantile 15 ST3GAL Amish infantile epilepsy syndrome STAR Lipoid adrenal hyperplasia STS Ichthyosis X-linked SUCLA Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) SUCLG Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) SUCLG SUMF Multiple sulfatase deficiency SUOX Sulfite oxidase deficiency TALDO Transaldolase deficiency TAT Tyrosinemia type II TAZ Barth syndrome TBXAS Ghosal hematodiaphyseal syndrome TCIRG Osteopetrosis autosomal recessive 1 TCN Transcobalamin II deficiency TECR Mental retardation autosomal recessive 14 TH Segawa syndrome recessive TK Mitochondrial DNA depletion syndrome 2 (myopathic type) TMEM Congenital disorder of glycosylation type IIk

17 TMEM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 10 TMLHE Epsilon-trimethyllysine hydroxylase deficiency TPI TPMT mercaptopurine sensitivity TPP Ceroid lipofuscinosis neuronal 2 TREH Trehalase deficiency TUSC Mental retardation autosomal recessive 7 TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type) TYR Albinism oculocutaneous type IA TYRP Albinism oculocutaneous type III UGT1A Crigler-Najjar syndrome type I UMPS Orotic aciduria UPB Beta-ureidopropionase deficiency UROC Urocanase deficiency UROD Porphyria cutanea tarda UROS Porphyria congenital erythropoietic XDH Xanthinuria type I Gene symbols used follow HGCN guidelines Genomics 79(4): (2002) updated October 2013 Depth describes the average number of reads seen across 50 exomes Coverage describes the average coverage of a gene across 50 exomes in percentiles OMIM release used for OMIM disease identifiers and descriptions : 15 october 2013 Ad 1. OMIM identifier 200 signifies a gene without a current OMIM association Ad 2. OMIM phenotype descriptions between {} signify risk factors