INTELLECTUAL DISABILITY GENE PANEL

Transcription

1 INTELLECTUAL DISABILITY GENE PANEL Gene Depth Coverage OMIM symbol (reads) (avg %) disease Description ABCC Atrial fibrillation familial 12 ABCD Adrenoleukodystrophy ABCD Methylmalonic aciduria and homocystinuria cblj type ABHD Chanarin-Dorfman syndrome ACAD ACAD9 deficiency ACO Infantile cerebellar-retinal degeneration ACOX Peroxisomal acyl-coa oxidase deficiency ACSF Combined malonic and methylmalonic aciduria ACSL Mental retardation X-linked 63 ACTB Baraitser-Winter syndrome 1 ACTG Baraitser-Winter syndrome 2 ACVR Fibrodysplasia ossificans progressiva ADAR Aicardi-Goutieres syndrome 6 ADCK ADCK ADSL Adenylosuccinase deficiency AFF Mental retardation X-linked FRAXE type AGA Aspartylglucosaminuria AGPAT Lipodystrophy congenital generalized type 1 AGTR Mental retardation X-linked 88 AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase AHI Joubert syndrome-3 AIFM Combined oxidative phosphorylation deficiency 6 AIMP Leukodystrophy hypomyelinating 3 AK Hemolytic anemia due to adenylate kinase deficiency AKT Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ALDH18A Cutis laxa autosomal recessive type IIIA ALDH3A Sjogren-Larsson syndrome

2 ALDH5A Succinic semialdehyde dehydrogenase deficiency ALG Congenital disorder of glycosylation type Ik ALG Congenital disorder of glycosylation type Ig 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 Il AMT Glycine encephalopathy ANKH Chondrocalcinosis 2 ANKRD KBG syndrome ANO Spinocerebellar ataxia autosomal recessive 10 AP1S Mental retardation X-linked syndromic Fried type AP3B Hermansky-Pudlak syndrome 2 AP4B Spastic paraplegia 47 autosomal recessive AP4E Spastic paraplegia 51 autosomal recessive AP4S Spastic paraplegia 52 autosomal recessive APTX Ataxia early-onset with oculomotor apraxia and hypoalbuminemia ARFGEF Periventricular heterotopia with microcephaly ARHGEF Mental retardation X-linked 46 ARHGEF Epileptic encephalopathy early infantile 8 ARID1A Mental retardation autosomal dominant 14 ARID1B Mental retardation autosomal dominant 12 ARL13B Joubert syndrome 8 ARL Bardet-Biedl syndrome 3 ARX Epileptic encephalopathy early infantile 1 ASL Argininosuccinic aciduria ASPA Canavan disease ASPM Microcephaly 5 primary autosomal recessive ASXL Bohring-Opitz syndrome ATP1A Alternating hemiplegia of childhood ATP2A Acrokeratosis verruciformis ATP6AP Mental retardation X-linked with epilepsy ATP6V0A Cutis laxa autosomal recessive type IIA

3 ATP7A Menkes disease ATR Cutaneous telangiectasia and cancer syndrome familial ATRX Alpha-thalassemia myelodysplasia syndrome somatic AUH methylglutaconic aciduria type I B3GALTL Peters-plus syndrome B4GALT Congenital disorder of glycosylation type IId B4GALT Ehlers-Danlos syndrome progeroid type 1 BBS Bardet-Biedl syndrome 1 BBS Bardet-Biedl syndrome 10 BBS Bardet-Biedl syndrome 12 BBS Bardet-Biedl syndrome 2 BBS Bardet-Biedl syndrome 4 BBS Bardet-Biedl syndrome 5 BBS Bardet-Biedl syndrome 7 BBS Bardet-Biedl syndrome 9 BCKDHA Maple syrup urine disease type Ia BCKDHB Maple syrup urine disease type Ib BCOR Microphthalmia syndromic 2 BCS1L Bjornstad syndrome BIVM- ERCC BLM Bloom syndrome BRAF Adenocarcinoma of lung somatic BRWD Mental retardation X-linked 93 BSCL Lipodystrophy congenital generalized type 2 BUB1B Colorectal cancer somatic C5orf Joubert syndrome 17 CA Osteopetrosis autosomal recessive 3 with renal tubular acidosis CACNA1C Brugada syndrome 3 CACNA1C Brugada syndrome 3 CACNA1C Brugada syndrome 3 CACNG Mental retardation autosomal dominant 10 CASK FG syndrome 4

4 CBS Homocystinuria B6-responsive and nonresponsive types CC2D1A Mental retardation autosomal recessive 3 CC2D2A COACH syndrome CCBE Hennekam lymphangiectasia-lymphedema syndrome CCDC Myopathy centronuclear 4 CDH Mental retardation autosomal dominant 3 CDK5RAP Microcephaly 3 primary autosomal recessive CDKL Angelman syndrome-like CDON Holoprosencephaly 11 CENPJ Microcephaly 6 primary autosomal recessive CEP Microcephaly 8 primary autosomal recessive CEP Microcephaly 9 primary autosomal recessive CEP Bardet-Biedl syndrome 14 CEP Joubert syndrome 15 CHD CHARGE syndrome CHKB- CPT1B CNTNAP Cortical dysplasia-focal epilepsy syndrome COG Congenital disorder of glycosylation type IIg COG Congenital disorder of glycosylation type IIe COG Congenital disorder of glycosylation type IIh COL4A Angiopathy hereditary with nephropathy aneurysms and muscle COL4A Porencephaly 2 COLEC MC syndrome 2 COQ Coenzyme Q10 deficiency primary 1 COX Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 2 CRBN Mental retardation autosomal recessive 2 CREBBP Rubinstein-Taybi syndrome CTDP Congenital cataracts facial dysmorphism and neuropathy CTNNB Colorectal cancer somatic CUL4B Mental retardation X-linked syndromic 15 (Cabezas type) CYB5R Methemoglobinemia type I D2HGDH D-2-hydroxyglutaric aciduria

5 DARS Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation DBT Maple syrup urine disease type II DCX Lissencephaly X-linked DDHD Spastic paraplegia 54 autosomal recessive DHCR Desmosterolosis DHCR Smith-Lemli-Opitz syndrome DHFR Megaloblastic anemia due to dihydrofolate reductase deficiency DHTKD aminoadipic 2-oxoadipic aciduria DIP2B Mental retardation FRA12A type DKC Dyskeratosis congenita X-linked DLD Dihydrolipoamide dehydrogenase deficiency DLG Mental retardation X-linked 90 DMD Becker muscular dystrophy DMPK Myotonic dystrophy 1 DNAJC methylglutaconic aciduria type V DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOCK Hyper-IgE recurrent infection syndrome autosomal recessive DPAGT Congenital disorder of glycosylation type Ij DPM Congenital disorder of glycosylation type Ie DPYD fluorouracil toxicity DYM Dyggve-Melchior-Clausen disease DYNC1H Charcot-Marie-Tooth disease axonal type 20 DYRK1A Mental retardation autosomal dominant 7 EFTUD Mandibulofacial dysostosis Guion-Almeida type EHMT Kleefstra syndrome EIF2AK Wolcott-Rallison syndrome ELOVL Ichthyosis spastic quadriplegia and mental retardation EMX Schizencephaly EP Colorectal cancer somatic EPB41L Mental retardation autosomal dominant 11 ERCC Cerebrooculofacioskeletal syndrome 2 ERCC Trichothiodystrophy ERCC Cerebrooculofacioskeletal syndrome 1

6 ERCC Cockayne syndrome type A ERLIN Spastic paraplegia 18 autosomal recessive ESCO Roberts syndrome ETHE Ethylmalonic encephalopathy FANCD Fanconi anemia complementation group D2 FBN Acromicric dysplasia FGD Aarskog-Scott syndrome FGFR Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis FGFR Achondroplasia FH Fumarase deficiency FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 5 FKTN Cardiomyopathy dilated 1X FLNA Cardiac valvular dysplasia X-linked FMR Fragile X syndrome FOXG Rett syndrome congenital variant FOXP Mental retardation with language impairment and autistic features FRAS Fraser syndrome FTO Growth retardation developmental delay coarse facies and early death FTSJ Mental retardation X-linked 9 FUCA Fucosidosis GAD Cerebral palsy spastic quadriplegic 1 GALE Galactose epimerase deficiency GALT Galactosemia GAMT Cerebral creatine deficiency syndrome 2 GATAD2B Mental retardation autosomal dominant 18 GATM Cerebral creatine deficiency syndrome 3 GCH Dystonia DOPA-responsive with or without hyperphenylalaninemia GCSH Glycine encephalopathy GDI Mental retardation X-linked 41 GFAP Alexander disease GJC Leukodystrophy hypomyelinating 2 GK Glycerol kinase deficiency GLDC Glycine encephalopathy

7 GLI Holoprosencephaly-9 GLI Greig cephalopolysyndactyly syndrome GNAS Acromegaly GNPAT Chondrodysplasia punctata rhizomelic type 2 GNS Mucopolysaccharidosis type IIID GPC Simpson-Golabi-Behmel syndrome type 1 GPHN Molybdenum cofactor deficiency type C GPR Polymicrogyria bilateral frontoparietal GRIA Mental retardation X-linked 94 GRIK Mental retardation autosomal recessive 6 GRIN Mental retardation autosomal dominant 8 GRIN2A Epilepsy with neurodevelopmental defects GRIN2B Mental retardation autosomal dominant 6 GSS Glutathione synthetase deficiency GTF2H Trichothiodystrophy complementation group A GUSB Mucopolysaccharidosis VII HAX Neutropenia severe congenital 3 autosomal recessive HCCS Microphthalmia syndromic 7 HCFC Mental retardation X-linked 3 HDAC Brachydactyly-mental retardation syndrome HDAC Cornelia de Lange syndrome 5 HESX Growth hormone deficiency with pituitary anomalies HLCS Holocarboxylase synthetase deficiency HOXA Athabaskan brainstem dysgenesis syndrome HPD Hawkinsinuria HPRT HPRT-related gout HRAS Congenital myopathy with excess of muscle spindles HSD17B beta-hydroxysteroid dehydrogenase X deficiency IDS Mucopolysaccharidosis II IDUA Mucopolysaccharidosis Ih IER3IP Microcephaly epilepsy and diabetes syndrome IGF Growth retardation with deafness and mental retardation due to IGF1 deficiency IKBKG Ectodermal dysplasia hypohidrotic with immune deficiency

8 IL1RAPL Mental retardation X-linked 21/34 INPP5E Joubert syndrome 1 IQSEC Mental retardation X-linked 1 ISPD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 7 JAM Hemorrhagic destruction of the brain subependymal calcification and cataracts KANSL Koolen-De Vries syndrome KAT6B Genitopatellar syndrome KCNJ Diabetes mellitus permanent neonatal with neurologic features KCNK Birk-Barel mental retardation dysmorphism syndrome KCNQ Epileptic encephalopathy early infantile 7 KCNT Epilepsy nocturnal frontal lobe 5 KCTD Epilepsy progressive myoclonic 3 with or without intracellular inclusions KDM5C Mental retardation X-linked syndromic Claes-Jensen type KDM6A Kabuki syndrome 2 KIAA Goldberg-Shprintzen megacolon syndrome KIF Microcephaly with or without chorioretinopathy lymphedema or mental retardation KIF Acrocallosal syndrome KIRREL Mental retardation autosomal dominant 4 KMT2D Kabuki syndrome 1 KRAS Bladder cancer somatic KRBOX L1CAM Corpus callosum partial agenesis of L2HGDH L-2-hydroxyglutaric aciduria LAMA Muscular dystrophy congenital merosin-deficient LAMC Cortical malformations occipital LAMP Danon disease LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 6 LARP Alazami syndrome LIG LIG4 syndrome LRP Donnai-Barrow syndrome LRPPRC Leigh syndrome French-Canadian type MAGT Immunodeficiency X-linked with magnesium defect Epstein-Barr virus infection and neoplasia MAN1B Mental retardation autosomal recessive 15

9 MAN2B Mannosidosis alpha- types I and II MANBA Mannosidosis beta MAOA Brunner syndrome MAP2K Cardiofaciocutaneous syndrome 3 MAP2K Cardiofaciocutaneous syndrome 4 MAT1A Hypermethioninemia persistent autosomal dominant due to methionine adenosyltransferase I/III deficiency MBD Mental retardation autosomal dominant 1 MCCC Methylcrotonyl-CoA carboxylase 1 deficiency MCCC Methylcrotonyl-CoA carboxylase 2 deficiency MCOLN Mucolipidosis IV MCPH Microcephaly 1 primary autosomal recessive MECP Angelman syndrome MED Lujan-Fryns syndrome MED Microcephaly postnatal progressive with seizures and brain atrophy MED Mental retardation autosomal recessive 18 MEF2C Mental retardation stereotypic movements epilepsy and/or cerebral malformations MGAT Congenital disorder of glycosylation type IIa MID Opitz GBBB syndrome type I MKKS Bardet-Biedl syndrome 6 MLYCD Malonyl-CoA decarboxylase deficiency MMAA Methylmalonic aciduria vitamin B12-responsive MMACHC Methylmalonic aciduria and homocystinuria cblc type MMADHC MMADHC MOCS Molybdenum cofactor deficiency type A MOCS Molybdenum cofactor deficiency type B MPDU Congenital disorder of glycosylation type If MPLKIP Trichothiodystrophy nonphotosensitive 1 MRPS Combined oxidative phosphorylation deficiency 5 MTR Homocystinuria-megaloblastic anemia cblg complementation type MTRR Homocystinuria-megaloblastic anemia cbl E type MUT Methylmalonic aciduria mut(0) type MVK Hyper-IgD syndrome

10 MYCN Feingold syndrome MYO5A Griscelli syndrome type 1 NAA N-terminal acetyltransferase deficiency NAGA Kanzaki disease NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B) NBN Leukemia, acute lymphoblastic NBN Nijmegen breakage syndrome NBN Aplastic anemia NDE Lissencephaly 4 (with microcephaly) NDP Exudative vitreoretinopathy X-linked NDUFA Mitochondrial complex I deficiency NDUFA Mitochondrial complex I deficiency NDUFA Leigh syndrome due to mitochondrial complex 1 deficiency NDUFS Mitochondrial complex I deficiency NDUFS Mitochondrial complex I deficiency NDUFS Leigh syndrome due to mitochondrial complex I deficiency NDUFS Leigh syndrome NDUFS Leigh syndrome NDUFS Leigh syndrome due to mitochondrial complex I deficiency NDUFV Mitochondrial complex I deficiency NEU Sialidosis type I NF Leukemia juvenile myelomonocytic NHS Cataract 40 X-linked NIPBL Cornelia de Lange syndrome 1 NKX Chorea hereditary benign NLGN4X NLRP CINCA syndrome NPHP Joubert syndrome 4 NRXN Pitt-Hopkins-like syndrome 2 NSD Beckwith-Wiedemann syndrome NSDHL CHILD syndrome NSUN Mental retardation autosomal recessive 5 NTRK Insensitivity to pain congenital with anhidrosis

11 OCLN Band-like calcification with simplified gyration and polymicrogyria OCRL Dent disease 2 OFD Joubert syndrome 10 OPHN Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance ORC Meier-Gorlin syndrome 1 PACS Mental retardation autosomal dominant 17 PAFAH1B Lissencephaly 1 PAK Mental retardation X-linked 30/47 PANK HARP syndrome PAX Aniridia PC Pyruvate carboxylase deficiency PCDH Epileptic encephalopathy early infantile 9 PCNT Microcephalic osteodysplastic primordial dwarfism type II PDHA Leigh syndrome X-linked PDSS Coenzyme Q10 deficiency primary 2 PDSS Coenzyme Q10 deficiency primary 3 PEPD Prolidase deficiency PEX Peroxisome biogenesis disorder 1A (Zellweger) PEX Peroxisome biogenesis disorder 6A (Zellweger) PEX11B Peroxisome biogenesis disorder 14B PEX Peroxisome biogenesis disorder 11A (Zellweger) PEX Peroxisome biogenesis disorder 7A (Zellweger) PEX Peroxisome biogenesis disorder 2A (Zellweger) PEX Peroxisome biogenesis disorder 9B PGK Phosphoglycerate kinase 1 deficiency PHF Borjeson-Forssman-Lehmann syndrome PHF Mental retardation syndrome X-linked Siderius type PHGDH Phosphoglycerate dehydrogenase deficiency PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGO Hyperphosphatasia with mental retardation syndrome 2 PIGV Hyperphosphatasia with mental retardation syndrome 1 PIK3R Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome PLCB Epileptic encephalopathy early infantile 12

12 PLP Pelizaeus-Merzbacher disease PMM Congenital disorder of glycosylation type Ia PNKP Epileptic encephalopathy early infantile 10 PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency POC1A Short stature onychodysplasia facial dysmorphism and hypotrichosis 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 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 PORCN Focal dermal hypoplasia PPOX Porphyria variegata PQBP Renpenning syndrome PRODH Hyperprolinemia type I PRPS Arts syndrome PRSS Mental retardation autosomal recessive 1 PTCH Basal cell carcinoma somatic PTCHD PTEN Bannayan-Riley-Ruvalcaba syndrome PTPN LEOPARD syndrome 1 PUS Mitochondrial myopathy and sideroblastic anemia 1 PVRL PYCR Cutis laxa autosomal recessive type IIB RAB Warburg micro syndrome 3 RAB27A Griscelli syndrome type 2 RAB39B Mental retardation X-linked 72 RAB3GAP Warburg micro syndrome 1 RAB3GAP Martsolf syndrome RAB40AL Mental retardation X-linked syndromic Martin-Probst type RAD Cornelia de Lange syndrome 4 RAF LEOPARD syndrome 2 RAI Smith-Magenis syndrome RARS Pontocerebellar hypoplasia type 6

13 RBM Alopecia neurologic defects and endocrinopathy syndrome RELN Lissencephaly 2 (Norman-Roberts type) RFT Congenital disorder of glycosylation type In RMND Combined oxidative phosphorylation deficiency 11 RNASEH2A Aicardi-Goutieres syndrome 4 RNASEH2B Aicardi-Goutieres syndrome 2 RNASEH2C Aicardi-Goutieres syndrome 3 ROGDI Kohlschutter-Tonz syndrome RPGRIP1L COACH syndrome RPS6KA Coffin-Lowry syndrome SALL Townes-Brocks branchiootorenal-like syndrome SATB Cleft palate and mental retardation SC5D SC5D SCN1A Dravet syndrome SCN2A Epileptic encephalopathy early infantile 11 SCN8A Cognitive impairment with or without cerebellar ataxia SCO Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 1 SDHA Cardiomyopathy dilated 1GG SERAC methylglutaconic aciduria with deafness encephalopathy and Leigh-like syndrome SETBP Schinzel-Giedion midface retraction syndrome SHH Holoprosencephaly-3 SHOC Noonan-like syndrome with loose anagen hair SHROOM Stocco dos Santos X-linked mental retardation syndrome SIL Marinesco-Sjogren syndrome SIX Holoprosencephaly-2 SKI Shprintzen-Goldberg syndrome SLC12A Agenesis of the corpus callosum with peripheral neuropathy SLC16A Allan-Herndon-Dudley syndrome SLC17A Salla disease SLC25A Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome SLC25A Epileptic encephalopathy early infantile 3 SLC2A Dystonia 9

14 SLC33A Congenital cataracts hearing loss and neurodegeneration SLC35C Congenital disorder of glycosylation type IIc SLC4A Renal tubular acidosis proximal with ocular abnormalities SLC6A Cerebral creatine deficiency syndrome 1 SLC9A Mental retardation X-linked syndromic Christianson type SMAD SMAD SMARCA Nicolaides-Baraitser syndrome SMARCA Mental retardation autosomal dominant 16 SMARCB Mental retardation autosomal dominant 15 SMC1A SMC SMOC Microphthalmia with limb anomalies SMPD Niemann-Pick disease type A SMS Mental retardation X-linked Snyder-Robinson type SNAP Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome SOBP Mental retardation anterior maxillary protrusion and strabismus SOS Fibromatosis gingival SOX PCWH syndrome SOX2-OT?? SOX Mental retardation X-linked with isolated growth hormone deficiency SPRED Legius syndrome SRCAP Floating-Harbor syndrome SRD5A Congenital disorder of glycosylation type Iq SRPX Rolandic epilepsy mental retardation and speech dyspraxia ST3GAL Epileptic encephalopathy early infantile 15 ST3GAL Epileptic encephalopathy early infantile 15 ST3GAL Epileptic encephalopathy early infantile 15 STIL Microcephaly 7 primary autosomal recessive STRA Microphthalmia isolated with coloboma 8 STXBP Epileptic encephalopathy early infantile 4 SUOX Sulfite oxidase deficiency SURF Leigh syndrome due to COX deficiency

15 SYN Epilepsy X-linked with variable learning disabilities and behavior disorders SYNGAP Mental retardation autosomal dominant 5 SYP Mental retardation X-linked 96 SYT Spinocerebellar ataxia autosomal recessive 11 TAT Tyrosinemia type II TBC1D Epileptic encephalopathy early infantile 16 TBCE Hypoparathyroidism-retardation-dysmorphism syndrome TCF Pitt-Hopkins syndrome TECR Mental retardation autosomal recessive 14 TGFBR Loeys-Dietz syndrome type 1A TGFBR Colorectal cancer hereditary nonpolyposis type 6 TGIF THRB Thyroid hormone resistance TIMM8A Deafness X-linked 1 TMCO Craniofacial dysmorphism skeletal anomalies and mental retardation syndrome TMEM Congenital disorder of glycosylation type IIk TMEM Joubert syndrome 20 TMEM Joubert syndrome 14 TMEM COACH syndrome TRAPPC Mental retardation autosomal recessive 13 TREX Aicardi-Goutieres syndrome 1 dominant and recessive TSC Focal cortical dysplasia Taylor balloon cell type TSC Lymphangioleiomyomatosis somatic TSPAN Mental retardation X-linked 58 TTC Bardet-Biedl syndrome 8 TUBA1A Lissencephaly 3 TUBB2B Polymicrogyria symmetric or asymmetric TUSC Mental retardation autosomal recessive 7 UBE2A Mental retardation X-linked syndromic Nascimento-type UBE3A Angelman syndrome UBR Johanson-Blizzard syndrome UPB Beta-ureidopropionase deficiency UPF3B Mental retardation X-linked syndromic 14

16 VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 VPS13B Cohen syndrome WDR Microcephaly 2 primary autosomal recessive with or without cortical malformations XPA Xeroderma pigmentosum group A ZDHHC Mental retardation X-linked syndromic Raymond type ZEB Mowat-Wilson syndrome ZIC Holoprosencephaly-5 ZNF Mental retardation X-linked 89 ZNF Spinocerebellar ataxia autosomal recessive 5 ZNF Mental retardation X-linked 92 ZNF Mental retardation X-linked 97 ZNF Mental retardation X-linked 45 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