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| DDG2P v3.12 | SIX5 | Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17357085; Phenotypes: BRANCHIOOTORENAL SYNDROME TYPE 2, OMIM:610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIX3 | Achchuthan Shanmugasundram reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19353631, 10369266, 19346217, 11039582, 17001667; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIX1 | Achchuthan Shanmugasundram reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15141091, 10777717, 12843324, 17637804; Phenotypes: BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389, Non-syndromic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIN3B | Achchuthan Shanmugasundram reviewed gene: SIN3B: Rating: RED; Mode of pathogenicity: ; Publications: 33811806; Phenotypes: SIN3B-related syndromic intellectual disability and autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIN3A | Achchuthan Shanmugasundram reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27399968; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIM1 | Achchuthan Shanmugasundram reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28472148, 23778139, 23778136; Phenotypes: Severe obesity with neurobehavioral features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIL1 | Achchuthan Shanmugasundram reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17026626, 18285827, 20111056, 16282978, 16282977; Phenotypes: MARINESCO-SJOEGREN SYNDROME, OMIM:248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIK1 | Achchuthan Shanmugasundram reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25839329; Phenotypes: NEONATAL EPILEPSY SPECTRUM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIAH1 | Achchuthan Shanmugasundram reviewed gene: SIAH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32430360; Phenotypes: SIAH1-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHROOM3 | Achchuthan Shanmugasundram reviewed gene: SHROOM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25805808; Phenotypes: NEURAL TUBE DEFECT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHOX | Achchuthan Shanmugasundram reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590292, 11403039, 12116254, 17935511, 9590293, 11889214, 15356038, 21712857, 11030412; Phenotypes: LANGER MESOMELIC DYSPLASIA, OMIM:249700, LERI-WEILL DYSCHONDROSTEOSIS, OMIM:127300; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHOC2 | Achchuthan Shanmugasundram reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19684605; Phenotypes: NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OMIM:607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHMT2 | Achchuthan Shanmugasundram reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33015733; Phenotypes: SHMT2-related neurodevelopmental syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHH | Achchuthan Shanmugasundram reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 12503095, 11471164, 15103725, 12567406; Phenotypes: HOLOPROSENCEPHALY TYPE 3, OMIM:142945, MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, OMIM:611638, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, OMIM:174500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHANK3 | Achchuthan Shanmugasundram reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17173049, 22892527; Phenotypes: PHELAN-MCDERMID SYNDROME, OMIM:606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHANK2 | Achchuthan Shanmugasundram reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20473310; Phenotypes: SUSCEPTIBILITY TO AUTISM TYPE 17, OMIM:613436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SHANK1 | Achchuthan Shanmugasundram reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SH3PXD2B | Achchuthan Shanmugasundram reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777, 7158646, 15523657; Phenotypes: FRANK-TER HAAR SYNDROME, OMIM:249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SH3BP2 | Achchuthan Shanmugasundram reviewed gene: SH3BP2: Rating: RED; Mode of pathogenicity: Other; Publications: 11381256; Phenotypes: Cherubism, OMIM:118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SGSH | Achchuthan Shanmugasundram reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3A, OMIM:252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SF3B4 | Achchuthan Shanmugasundram reviewed gene: SF3B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22541558; Phenotypes: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OMIM:154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SETD5 | Achchuthan Shanmugasundram reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 31656537, 28549204, 27375234, 28881385, 24680889, 25138099, 28905509; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23, OMIM:615761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SETD2 | Achchuthan Shanmugasundram reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34978780, 27317772, 32710489, 24852293; Phenotypes: Rabin-Pappas syndrome, SETD2-associated Overgrowth Syndrome (Luscan-Lumish syndrome); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SETD1B | Achchuthan Shanmugasundram reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 32546566, 29322246; Phenotypes: SETD1B associated intellectual disability, epilepsy and autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SETD1A | Achchuthan Shanmugasundram reviewed gene: SETD1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SETBP1 | Achchuthan Shanmugasundram reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20436468; Phenotypes: DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, OMIM:269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SET | Achchuthan Shanmugasundram reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: ; Publications: 35122673, 29688601, 29907757, 28135719; Phenotypes: SET syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SERAC1 | Achchuthan Shanmugasundram reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32346411, 27186703, 28505671, 27331002, 28778788, 28916646, 34326751, 23707711, 29205472, 31251474, 33613893; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEPSECS | Achchuthan Shanmugasundram reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805434, 29464431, 26888482; Phenotypes: Pontocerebellar hypoplasia type 2D, OMIM:613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEMA6B | Achchuthan Shanmugasundram reviewed gene: SEMA6B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34110594, 34017830, 33798445, 32169168, 34218423, 35604360, 34092044; Phenotypes: SEMA6B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEMA3A | Achchuthan Shanmugasundram reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24124006, 33369061, 28075028; Phenotypes: SEMA3A-related skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SELENON | Achchuthan Shanmugasundram reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 26841830, 15792869, 12192640, 28558865, 30642275, 23394784, 20937510, 32154989, 26780752, 29850975, 11528383, 15668457, 16498447, 28688748, 29172004, 31066047, 21670436, 28606403, 15961312, 25808192, 17951086; Phenotypes: SELENON-related myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SELENOI | Achchuthan Shanmugasundram reviewed gene: SELENOI: Rating: GREEN; Mode of pathogenicity: ; Publications: 29500230, 28052917; Phenotypes: EPT1-related complex progressive hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SECISBP2 | Achchuthan Shanmugasundram reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16228000; Phenotypes: THYROID HORMONE METABOLISM, ABNORMAL, OMIM:609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC61A1 | Achchuthan Shanmugasundram reviewed gene: SEC61A1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC24D | Achchuthan Shanmugasundram reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683121; Phenotypes: SYNDROMIC OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC23B | Achchuthan Shanmugasundram reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19621418, 19561605; Phenotypes: ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II, OMIM:224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC23A | Achchuthan Shanmugasundram reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: Other; Publications: 16980979; Phenotypes: CRANIOLENTICULOSUTURAL DYSPLASIA, OMIM:607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SDHAF1 | Achchuthan Shanmugasundram reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX II DEFICIENCY, OMIM:252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SDHA | Achchuthan Shanmugasundram reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SDCCAG8 | Achchuthan Shanmugasundram reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 20835237, 22626039; Phenotypes: SENIOR-LOKEN SYNDROME 7, OMIM:613615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCYL1 | Achchuthan Shanmugasundram reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26581903; Phenotypes: Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCUBE3 | Achchuthan Shanmugasundram reviewed gene: SCUBE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 33308444; Phenotypes: SCUBE3-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCRIB | Achchuthan Shanmugasundram reviewed gene: SCRIB: Rating: RED; Mode of pathogenicity: ; Publications: 24140112; Phenotypes: 8Q24.3 DELETION-LIKE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCO2 | Achchuthan Shanmugasundram reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749987, 14994243, 10545952, 18924171; Phenotypes: FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY, OMIM:604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCO1 | Achchuthan Shanmugasundram reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCNM1 | Achchuthan Shanmugasundram reviewed gene: SCNM1: Rating: RED; Mode of pathogenicity: ; Publications: 36084634; Phenotypes: SCNM1-associated orofaciodigital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN8A | Achchuthan Shanmugasundram reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22365152, 16236810; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, OMIM:614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN4A | Achchuthan Shanmugasundram reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 1310898, 1316765, 10599760, 10851391, 16890191, 1338909, 8388676, 17998485, 1659668, 19015492, 8580427, 11591859, 10369308, 15596759, 18203179, 1659948, 19015483, 10944223; Phenotypes: HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500, PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN3A | Achchuthan Shanmugasundram reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18242854, 24157691; Phenotypes: Focal epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN2A | Achchuthan Shanmugasundram reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25457084, 26291284, 31966371, 24579881, 31439038, 28489313, 31204721, 28379373, 19783390, 30062040, 16417554, 24814476, 28254201, 15028761, 26311622, 17386050, 23550958, 22591750, 19786696, 23988467, 24710820, 24659627, 30144217, 30203812, 25459969, 29635106, 23935176, 28709814, 23827426, 27781028, 25772804, 29625812; Phenotypes: NONSPECIFIC SEVERE ID, INFANTILE EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN1B | Achchuthan Shanmugasundram reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17020904, 9697698, 12011299, 18464934; Phenotypes: BRUGADA SYNDROME 5, OMIM:612838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN1A | Achchuthan Shanmugasundram reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16505326, 18680191, 12566275, 11359211, 21555645, 21753172, 17000989; Phenotypes: SCN1A-RELATED SEIZURE DISORDERS, OMIM:607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN11A | Achchuthan Shanmugasundram reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24036948; Phenotypes: CONGENITAL INABILITY TO EXPERIENCE PAIN, EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCARF2 | Achchuthan Shanmugasundram reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21108395; Phenotypes: VAN DEN ENDE-GUPTA SYNDROME, OMIM:600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCAPER | Achchuthan Shanmugasundram reviewed gene: SCAPER: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCAF4 | Achchuthan Shanmugasundram reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 32730804; Phenotypes: SCAF4-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SC5D | Achchuthan Shanmugasundram reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12189593, 12812989; Phenotypes: LATHOSTEROLOSIS, OMIM:607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SBDS | Achchuthan Shanmugasundram reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHWACHMAN-DIAMOND SYNDROME, OMIM:260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SATB2 | Achchuthan Shanmugasundram reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30848049, 31392730, 31021519, 30575289, 17377962, 31333717, 28151491, 29739092, 35838081, 29436146, 28211976, 28139846, 26596517, 28787087, 31420882, 24363063, 30648748, 25885067, 24301056, 27774744; Phenotypes: GLASS SYNDROME, OMIM:612313; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SATB1 | Achchuthan Shanmugasundram reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: SATB1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SARS2 | Achchuthan Shanmugasundram reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21255763, 33751860, 24034276; Phenotypes: SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SARS | Achchuthan Shanmugasundram reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28236339, 34570399, 36041817; Phenotypes: SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709, Autosomal dominant SARS1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SAMHD1 | Achchuthan Shanmugasundram reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AICARDI-GOUTIERES SYNDROME, OMIM:239588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SAMD9L | Achchuthan Shanmugasundram reviewed gene: SAMD9L: Rating: RED; Mode of pathogenicity: Other; Publications: 27259050; Phenotypes: Ataxia-Pancytopenia Syndrome, OMIM:159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SAMD9 | Achchuthan Shanmugasundram reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28346228, 27182967; Phenotypes: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy, OMIM:617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SALL4 | Achchuthan Shanmugasundram reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17256792, 12395297, 26791099, 12393809; Phenotypes: DUANE-RADIAL RAY SYNDROME, OMIM:607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SALL1 | Achchuthan Shanmugasundram reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18000979, 10533063, 9973281, 17431915, 14755477, 11484202, 10928856, 9425907; Phenotypes: TOWNES-BROCKS SYNDROME, OMIM:107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SACS | Achchuthan Shanmugasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655055; Phenotypes: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, OMIM:270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RYR3 | Achchuthan Shanmugasundram reviewed gene: RYR3: Rating: RED; Mode of pathogenicity: ; Publications: 25262651; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RYR2 | Achchuthan Shanmugasundram reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: Other; Publications: 30170228; Phenotypes: RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RYR1 | Achchuthan Shanmugasundram reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20839240; Phenotypes: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, OMIM:255320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RUNX2 | Achchuthan Shanmugasundram reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207800, 12081718, 12424590, 9182765, 10545612, 15952089, 10521292; Phenotypes: CLEIDOCRANIAL DYSPLASIA, OMIM:119600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RUBCN | Achchuthan Shanmugasundram reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RTTN | Achchuthan Shanmugasundram reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26608784, 29883675, 22939636; Phenotypes: BILATERAL DIFFUSE POLYMICROGYRIA, OMIM:614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RTN4IP1 | Achchuthan Shanmugasundram reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26593267; Phenotypes: EARLY-ONSET RECESSIVE OPTIC NEUROPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RTEL1 | Achchuthan Shanmugasundram reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453664; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSRC1 | Achchuthan Shanmugasundram reviewed gene: RSRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29522154, 32227164, 28640246; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPRY1 | Achchuthan Shanmugasundram reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26365341; Phenotypes: PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPO4 | Achchuthan Shanmugasundram reviewed gene: RSPO4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186469, 18070203, 17041604, 17914448, 4702713; Phenotypes: ANONYCHIA CONGENITA, OMIM:206800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPO2 | Achchuthan Shanmugasundram reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29769720; Phenotypes: Tetra-amelia with lung agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPH3 | Achchuthan Shanmugasundram reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26073779; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPH1 | Achchuthan Shanmugasundram reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993197; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RRM2B | Achchuthan Shanmugasundram reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23107649, 19616983, 28482374, 23968935, 17486094; Phenotypes: Mitochondrial depletion syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RRM1 | Achchuthan Shanmugasundram reviewed gene: RRM1: Rating: RED; Mode of pathogenicity: Other; Publications: 35617047; Phenotypes: RRM1-related mitochondrial DNA depletion/deletions syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RRAS2 | Achchuthan Shanmugasundram reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31130282, 24705357, 31130285; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RRAS | Achchuthan Shanmugasundram reviewed gene: RRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24705357; Phenotypes: ATYPICAL NOONAN SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPS6KA3 | Achchuthan Shanmugasundram reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17717706, 10094187, 12439904, 8955270, 9887375, 9837815, 12558110, 10528858, 15214012, 14986828, 11992250; Phenotypes: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPS26 | Achchuthan Shanmugasundram reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: 24942156, 24675553, 25946618, 31277601, 20116044; Phenotypes: DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPS23 | Achchuthan Shanmugasundram reviewed gene: RPS23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28257692; Phenotypes: Microcephaly, hearing loss, and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPS19 | Achchuthan Shanmugasundram reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RPS19-RELATED DIAMOND-BLACKFAN ANEMIA, OMIM:220176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL26 | Achchuthan Shanmugasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22431104; Phenotypes: DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL13 | Achchuthan Shanmugasundram reviewed gene: RPL13: Rating: RED; Mode of pathogenicity: Other; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL11 | Achchuthan Shanmugasundram reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19191325, 19773262, 19061985; Phenotypes: Diamond-Blackfan anemia with cleft palate and abnormal thumbs; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL10 | Achchuthan Shanmugasundram reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25846674, 29066376, 35876338, 25316788, 26290468; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPGRIP1L | Achchuthan Shanmugasundram reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 17558407, 17558409, 18565097, 19574260; Phenotypes: MECKEL SYNDROME TYPE 5, OMIM:611561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPGRIP1 | Achchuthan Shanmugasundram reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12920076, 11283794, 11528500; Phenotypes: LEBER CONGENITAL AMAUROSIS 6, OMIM:613826, CONE-ROD DYSTROPHY 13, OMIM:608194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPE65 | Achchuthan Shanmugasundram reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326927; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RORB | Achchuthan Shanmugasundram reviewed gene: RORB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27352968, 32162308, 33387058; Phenotypes: RORB-epilepsy and neurodevelopmental disorder, OMIM:618357, epilepsy, idiopathic generalized, susceptibility to, 15, MONDO:0032699; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RORA | Achchuthan Shanmugasundram reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: ; Publications: 29656859; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ROR2 | Achchuthan Shanmugasundram reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35344616, 15952209, 19533773, 10932187, 10986040, 19640924, 18831060, 10700182, 19461659, 10932186; Phenotypes: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1, OMIM:268310, BRACHYDACTYLY, TYPE B1, OMIM:113000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ROGDI | Achchuthan Shanmugasundram reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: ; Publications: 3236364, 7625549, 16411202, 22482807, 8133980, 22424600; Phenotypes: KOHLSCHUTTER-TONZ SYNDROME, OMIM:226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ROBO4 | Achchuthan Shanmugasundram reviewed gene: ROBO4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30455415; Phenotypes: Bicuspid Aortic Valve and Aortic Aneurysm, OMIM:618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ROBO3 | Achchuthan Shanmugasundram reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16525029, 15105459; Phenotypes: FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS, OMIM:607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNU4ATAC | Achchuthan Shanmugasundram reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22581640, 21474761, 21474760, 17666473; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I, OMIM:210710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNU12 | Achchuthan Shanmugasundram reviewed gene: RNU12: Rating: RED; Mode of pathogenicity: Other; Publications: 27863452, 34085356; Phenotypes: RNU12-related CDAGS syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNPC3 | Achchuthan Shanmugasundram reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35792517, 29866761, 32462814, 24480542, 33650182; Phenotypes: RNPC3-associated growth hormone deficiency and short stature, OMIM:618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF168 | Achchuthan Shanmugasundram reviewed gene: RNF168: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: RIDDLE SYNDROME, OMIM:611943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF135 | Achchuthan Shanmugasundram reviewed gene: RNF135: Rating: RED; Mode of pathogenicity: ; Publications: 17632510; Phenotypes: MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME, OMIM:614192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF13 | Achchuthan Shanmugasundram reviewed gene: RNF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595371; Phenotypes: Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF125 | Achchuthan Shanmugasundram reviewed gene: RNF125: Rating: RED; Mode of pathogenicity: Other; Publications: 34196401, 25196541; Phenotypes: RNF125-related intellectual disability and macrocephaly, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF113A | Achchuthan Shanmugasundram reviewed gene: RNF113A: Rating: RED; Mode of pathogenicity: ; Publications: 25612912; Phenotypes: X-LINKED TRICHOTHIODYSTROPHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASET2 | Achchuthan Shanmugasundram reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19525954; Phenotypes: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, OMIM:612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASEH2C | Achchuthan Shanmugasundram reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845400; Phenotypes: AICARDI-GOUTIERES SYNDROME 3, OMIM:610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASEH2B | Achchuthan Shanmugasundram reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845400; Phenotypes: AICARDI-GOUTIERES SYNDROME 2, OMIM:610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASEH2A | Achchuthan Shanmugasundram reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15870678; Phenotypes: AICARDI-GOUTIERES SYNDROME 4, OMIM:610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RMRP | Achchuthan Shanmugasundram reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CARTILAGE-HAIR HYPOPLASIA, OMIM:250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RMND1 | Achchuthan Shanmugasundram reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23022099; Phenotypes: ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT, OMIM:614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RMI1 | Achchuthan Shanmugasundram reviewed gene: RMI1: Rating: RED; Mode of pathogenicity: ; Publications: 30193137; Phenotypes: Bloom Syndrome like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RLIM | Achchuthan Shanmugasundram reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25644381; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RIT1 | Achchuthan Shanmugasundram reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23791108; Phenotypes: NOONAN SYNDROME 8, OMIM:615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RIPK4 | Achchuthan Shanmugasundram reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15264293, 22197488; Phenotypes: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE, OMIM:263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RINT1 | Achchuthan Shanmugasundram reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31204009; Phenotypes: Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RIN2 | Achchuthan Shanmugasundram reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19631308; Phenotypes: MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RIMS2 | Achchuthan Shanmugasundram reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32470375; Phenotypes: RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RHOBTB2 | Achchuthan Shanmugasundram reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29276004; Phenotypes: Developmental and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RGS7 | Achchuthan Shanmugasundram reviewed gene: RGS7: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RFX6 | Achchuthan Shanmugasundram reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 15592663, 19887127, 18512226, 20148032; Phenotypes: MARTINEZ-FRIAS SYNDROME, OMIM:601346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RFT1 | Achchuthan Shanmugasundram reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18313027; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N, OMIM:612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RETREG1 | Achchuthan Shanmugasundram reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19838196; Phenotypes: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, OMIM:613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RET | Achchuthan Shanmugasundram reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11788682; Phenotypes: MULTIPLE ENDOCRINE NEOPLASIA IIB, OMIM:162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | REST | Achchuthan Shanmugasundram reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36509837; Phenotypes: REST-related gingival fibromatosis and sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RERE | Achchuthan Shanmugasundram reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: ; Publications: 27087320; Phenotypes: Phenocopy of Proximal 1p36 Deletions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RELN | Achchuthan Shanmugasundram reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LISSENCEPHALY 2, OMIM:257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RECQL4 | Achchuthan Shanmugasundram reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11754069, 12952869, 15964893, 12734318, 10319867, 20503338, 12838562, 9934984, 10678659, 9878247; Phenotypes: BALLER-GEROLD SYNDROME, OMIM:218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBPJ | Achchuthan Shanmugasundram reviewed gene: RBPJ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22883147; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBM8A | Achchuthan Shanmugasundram reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22366785; Phenotypes: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, OMIM:274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBM28 | Achchuthan Shanmugasundram reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: Other; Publications: 18439547; Phenotypes: ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME, OMIM:612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBM10 | Achchuthan Shanmugasundram reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451169, 5410571, 30189253, 30450804, 35645043; Phenotypes: TARP SYNDROME, OMIM:311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBFOX1 | Achchuthan Shanmugasundram reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: ; Publications: 26185613, 26749308; Phenotypes: RBFOX1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBBP8 | Achchuthan Shanmugasundram reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: ; Publications: 26333564, 34270086, 21998596; Phenotypes: RBBP8-related microcephaly and intellectual disability, OMIM:251255; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAX | Achchuthan Shanmugasundram reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 18783408, 14662654; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 3, OMIM:611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RASA1 | Achchuthan Shanmugasundram reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: ; Publications: 18363760, 14639529; Phenotypes: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1, OMIM:608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RARS2 | Achchuthan Shanmugasundram reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 6, OMIM:611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RARS | Achchuthan Shanmugasundram reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28905880, 31814314; Phenotypes: RARS1 related hypomyelinating leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RARB | Achchuthan Shanmugasundram reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27120018, 24075189; Phenotypes: MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA, Microphthalmia, syndromic 12, OMIM:615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAPSN | Achchuthan Shanmugasundram reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11791205, 18179903; Phenotypes: FETAL AKINESIA DEFORMATION SEQUENCE, OMIM:208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAP1B | Achchuthan Shanmugasundram reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: Other; Publications: 32627184, 26280580; Phenotypes: RAP1B-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RANBP2 | Achchuthan Shanmugasundram reviewed gene: RANBP2: Rating: RED; Mode of pathogenicity: Other; Publications: 19118815; Phenotypes: ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO, OMIM:285648; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RALGDS | Achchuthan Shanmugasundram reviewed gene: RALGDS: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RALGAPA1 | Achchuthan Shanmugasundram reviewed gene: RALGAPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004447; Phenotypes: RALGAPA1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RALA | Achchuthan Shanmugasundram reviewed gene: RALA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30500825; Phenotypes: RALA-related Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAI1 | Achchuthan Shanmugasundram reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SMITH-MAGENIS SYNDROME, OMIM:182290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAF1 | Achchuthan Shanmugasundram reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17603483; Phenotypes: NOONAN SYNDROME 5, OMIM:611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAD51C | Achchuthan Shanmugasundram reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20400963; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP 0, OMIM:613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAD51 | Achchuthan Shanmugasundram reviewed gene: RAD51: Rating: RED; Mode of pathogenicity: ; Publications: 21242494; Phenotypes: MIRROR MOVEMENTS 2, OMIM:614508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAD50 | Achchuthan Shanmugasundram reviewed gene: RAD50: Rating: RED; Mode of pathogenicity: ; Publications: 19409520; Phenotypes: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAD21 | Achchuthan Shanmugasundram reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: ; Publications: 27882533, 30716475, 22633399, 32193685, 24378232, 30125677; Phenotypes: COHESINOPATHY, OMIM:614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAC3 | Achchuthan Shanmugasundram reviewed gene: RAC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30293988; Phenotypes: Neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAC1 | Achchuthan Shanmugasundram reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35139179, 28886345; Phenotypes: RAC1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RABL6 | Achchuthan Shanmugasundram reviewed gene: RABL6: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB3GAP2 | Achchuthan Shanmugasundram reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16532399, 29419336; Phenotypes: MARTSOLF SYNDROME, OMIM:212720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB3GAP1 | Achchuthan Shanmugasundram reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15216543, 29675078, 10465117, 20512159, 15696165; Phenotypes: WARBURG MICRO SYNDROME TYPE 1, OMIM:600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB39B | Achchuthan Shanmugasundram reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20159109, 25434005, 11050621; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 72 (MRX72) +/- PARKINSONS, OMIM:300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB23 | Achchuthan Shanmugasundram reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: ; Publications: 17503333, 20358613; Phenotypes: ACROCEPHALOPOLYSYNDACTYLY TYPE 2, OMIM:201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB18 | Achchuthan Shanmugasundram reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 29300443, 26063829, 21473985; Phenotypes: WARBURG MICRO SYNDROME TYPE 3, OMIM:614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB14 | Achchuthan Shanmugasundram reviewed gene: RAB14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: RAB14-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB11B | Achchuthan Shanmugasundram reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29106825; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB11A | Achchuthan Shanmugasundram reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | QRICH1 | Achchuthan Shanmugasundram reviewed gene: QRICH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28692176; Phenotypes: QRICH1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | QKI | Achchuthan Shanmugasundram reviewed gene: QKI: Rating: RED; Mode of pathogenicity: ; Publications: 20082458; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | QDPR | Achchuthan Shanmugasundram reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8326489, 2116088, 11153907, 9341885, 9744478; Phenotypes: BH4-DEFICIENT HYPERPHENYLALANINEMIA C, OMIM:261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | QARS | Achchuthan Shanmugasundram reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24656866; Phenotypes: MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYROXD1 | Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27745833; Phenotypes: Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYGL | Achchuthan Shanmugasundram reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 9529348, 9536091; Phenotypes: GLYCOGEN STORAGE DISEASE TYPE VI, OMIM:232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYCR2 | Achchuthan Shanmugasundram reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25865492; Phenotypes: POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYCR1 | Achchuthan Shanmugasundram reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19648921, 18304158, 11424136, 19576563, 18348262, 16045708; Phenotypes: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, OMIM:612940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PXDN | Achchuthan Shanmugasundram reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21907015; Phenotypes: CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PUS7 | Achchuthan Shanmugasundram reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: ; Publications: 30526862; Phenotypes: Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PUS3 | Achchuthan Shanmugasundram reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30697592, 32056211, 34415064, 31444731, 30308082, 27055666; Phenotypes: PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PUS1 | Achchuthan Shanmugasundram reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32287105, 30588737, 17056637, 26556812, 25227147; Phenotypes: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PURA | Achchuthan Shanmugasundram reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: ; Publications: 31911028, 29150892, 25342064, 32089526, 29307761, 29097605, 27148565, 25439098; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PUF60 | Achchuthan Shanmugasundram reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: ; Publications: 28327570, 27804958; Phenotypes: PUF60 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTS | Achchuthan Shanmugasundram reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10220141, 8178819, 9450907; Phenotypes: 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY, OMIM:261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTRH2 | Achchuthan Shanmugasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31057140, 27129381, 25574476, 25558065, 28328138; Phenotypes: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTPRF | Achchuthan Shanmugasundram reviewed gene: PTPRF: Rating: RED; Mode of pathogenicity: ; Publications: 24781087; Phenotypes: ATHELIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTPN14 | Achchuthan Shanmugasundram reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: ; Publications: 20826270; Phenotypes: CHOANAL ATRESIA AND LYMPHEDEMA, OMIM:613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTPN11 | Achchuthan Shanmugasundram reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19659470, 15520399, 21910226, 15384080, 24820750, 16733669, 12325025, 19864201, 22822385, 19768645, 19054014, 11992261, 23799168, 15240615, 27484170, 11704759, 24790373, 26377839, 25884655, 25917897, 17875892, 12529711, 12161469, 21365175, 19449407, 21747628, 21677813, 17927788; Phenotypes: LEOPARD SYNDROME TYPE 1, OMIM:151100, NOONAN SYNDROME 1, OMIM:163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTHLH | Achchuthan Shanmugasundram reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20170896; Phenotypes: CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS, BRACHYDACTYLY, TYPE E2, OMIM:613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTH1R | Achchuthan Shanmugasundram reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 9745456, 8703170, 15240651, 17164305, 3975110, 7701349, 10487664, 15525660, 10523019, 19061984, 9649554; Phenotypes: PRIMARY FAILURE OF TOOTH ERUPTION, OMIM:125350, CHONDRODYSPLASIA BLOMSTRAND TYPE, OMIM:215045, JANSEN METAPHYSEAL CHONDRODYSPLASIA, OMIM:156400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTH | Achchuthan Shanmugasundram reviewed gene: PTH: Rating: GREEN; Mode of pathogenicity: ; Publications: 3005800, 1302009, 10523031, 2212001; Phenotypes: FAMILIAL ISOLATED HYPOPARATHYROIDISM, OMIM:146200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTF1A | Achchuthan Shanmugasundram reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15543146, 21749365, 10507728, 24212882; Phenotypes: PANCREATIC AGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS, OMIM:609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTEN | Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9241266, 9467011, 17286265, 9259288, 11476841, 9425889, 9140396, 9832031, 10051160, 16704655, 12844284, 15805158, 12471211, 10353779, 10777358, 23160955, 11238682, 9832032; Phenotypes: PTEN Hamartoma Tumor Syndrome, PROTEUS SYNDROME, OMIM:176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTDSS1 | Achchuthan Shanmugasundram reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35224839, 24241535; Phenotypes: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, OMIM:151050, Developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTCHD1 | Achchuthan Shanmugasundram reviewed gene: PTCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20844286; Phenotypes: AUTISM/ID, OMIM:300830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTCH1 | Achchuthan Shanmugasundram reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8658145, 11941477, 8681379, 17001668, 22572734, 12900905; Phenotypes: BASAL CELL NEVUS SYNDROME, OMIM:109400, HOLOPROSENCEPHALY-7, OMIM:610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSPH | Achchuthan Shanmugasundram reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 25152457, 14673469, 9222972; Phenotypes: NEU-LAXOVA, OMIM:256520, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, OMIM:614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMD12 | Achchuthan Shanmugasundram reviewed gene: PSMD12: Rating: RED; Mode of pathogenicity: ; Publications: 28388435; Phenotypes: Global Developmental Delay, Multiple Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMC5 | Achchuthan Shanmugasundram reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: PSMC5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMC1 | Achchuthan Shanmugasundram reviewed gene: PSMC1: Rating: RED; Mode of pathogenicity: Other; Publications: 35861243; Phenotypes: PSMC1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMB8 | Achchuthan Shanmugasundram reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21881205, 21953331, 21852578, 21129723; Phenotypes: NAKAJO SYNDROME, OMIM:256040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSAT1 | Achchuthan Shanmugasundram reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436247; Phenotypes: NEU-LAXOVA SYNDROME, OMIM:256520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSAP | Achchuthan Shanmugasundram reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 15773042; Phenotypes: ATYPICAL KRABBE DISEASE, OMIM:611722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRUNE1 | Achchuthan Shanmugasundram reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28211990, 28334956; Phenotypes: PEHO Like condition; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRSS56 | Achchuthan Shanmugasundram reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: ; Publications: 21397065, 19526372; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 6, OMIM:613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRSS12 | Achchuthan Shanmugasundram reviewed gene: PRSS12: Rating: GREEN; Mode of pathogenicity: ; Publications: 12459588; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 1, OMIM:249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRRX1 | Achchuthan Shanmugasundram reviewed gene: PRRX1: Rating: RED; Mode of pathogenicity: Other; Publications: 23444262, 22211708; Phenotypes: AGNATHIA-OTOCEPHALY COMPLEX monoallelic, AGNATHIA-OTOCEPHALY COMPLEX biallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRRT2 | Achchuthan Shanmugasundram reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22543779, 21937992, 22243967, 22744660; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME, OMIM:602066; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRR12 | Achchuthan Shanmugasundram reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724, 26163108; Phenotypes: Intellectual disability and iris abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRPS1 | Achchuthan Shanmugasundram reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22246954, 17701896, 8498830, 6243137, 15240907, 7593598, 10503584, 171280, 17701900, 8968763, 2423135, 20021999; Phenotypes: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, OMIM:300661, DEAFNESS X-LINKED TYPE 1, OMIM:304500, CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, OMIM:311070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRPF8 | Achchuthan Shanmugasundram reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 35543142, 29847639; Phenotypes: PRPF8-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PROSER1 | Achchuthan Shanmugasundram reviewed gene: PROSER1: Rating: RED; Mode of pathogenicity: ; Publications: 35229282; Phenotypes: PROSER1-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PROP1 | Achchuthan Shanmugasundram reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:262600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRMT9 | Achchuthan Shanmugasundram reviewed gene: PRMT9: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRMT7 | Achchuthan Shanmugasundram reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029; Phenotypes: Pseudohypoparathyroidism-like disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKG2 | Achchuthan Shanmugasundram reviewed gene: PRKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34782440, 36504352, 33106379; Phenotypes: PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKD1 | Achchuthan Shanmugasundram reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Syndromic congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKAR1B | Achchuthan Shanmugasundram reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 33833410; Phenotypes: PRKAR1B-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKAR1A | Achchuthan Shanmugasundram reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22464252, 22464250, 21651393; Phenotypes: ACRODYSOSTOSIS, OMIM:101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKACB | Achchuthan Shanmugasundram reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33058759; Phenotypes: PRKACB-related Multiple Congenital Malformation Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKACA | Achchuthan Shanmugasundram reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33058759; Phenotypes: PRKACA-related Multiple Congenital Malformation Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRIM1 | Achchuthan Shanmugasundram reviewed gene: PRIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33060134; Phenotypes: PRIM1-related Primordial Dwarfism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PREPL | Achchuthan Shanmugasundram reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 24610330; Phenotypes: HYPOTONIA-CYSTINURIA SYNDROME, OMIM:606407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDX3 | Achchuthan Shanmugasundram reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35766882; Phenotypes: PRDX3-associated cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM6 | Achchuthan Shanmugasundram reviewed gene: PRDM6: Rating: RED; Mode of pathogenicity: Other; Publications: 27181681; Phenotypes: Isolated Nonsyndromic Patent Ductus Arteriosus.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM15 | Achchuthan Shanmugasundram reviewed gene: PRDM15: Rating: RED; Mode of pathogenicity: Other; Publications: 33593823; Phenotypes: PRDM15-related renal and neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM13 | Achchuthan Shanmugasundram reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: 35390279; Phenotypes: PRDM13-related olivopentocerebellar hypoplasia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM12 | Achchuthan Shanmugasundram reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: ; Publications: 26005867; Phenotypes: HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII, OMIM:616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PQBP1 | Achchuthan Shanmugasundram reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 13981686, 14634649, 3177467, 7943045, 16493439, 16740914; Phenotypes: RENPENNING SYNDROME 1, OMIM:309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPT1 | Achchuthan Shanmugasundram reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, OMIM:256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP3CA | Achchuthan Shanmugasundram reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942967; Phenotypes: Severe Neurodevelopmental Disease with Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP2R5D | Achchuthan Shanmugasundram reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25972378, 36216457, 25533962, 26576547; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP2R1A | Achchuthan Shanmugasundram reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25533962; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP2CA | Achchuthan Shanmugasundram reviewed gene: PPP2CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30595372; Phenotypes: Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1R21 | Achchuthan Shanmugasundram reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: ; Publications: 30520571, 28940097, 29808498, 32985083; Phenotypes: PPP1R21-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1R15B | Achchuthan Shanmugasundram reviewed gene: PPP1R15B: Rating: RED; Mode of pathogenicity: ; Publications: 26307080; Phenotypes: Severe microcephaly, short stature and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1R13L | Achchuthan Shanmugasundram reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32666529, 28069640; Phenotypes: PPP1R13L-related dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1R12A | Achchuthan Shanmugasundram reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883643; Phenotypes: PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1CB | Achchuthan Shanmugasundram reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27264673; Phenotypes: Rasopathy with developmental delay, short stature and sparse slow-growing hair; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPM1D | Achchuthan Shanmugasundram reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 28135719, 28343630; Phenotypes: PPM1D syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPIL1 | Achchuthan Shanmugasundram reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPFIBP1 | Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30214071, 35830857; Phenotypes: PPFIBP1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPA2 | Achchuthan Shanmugasundram reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27523598, 27523597, 34400813; Phenotypes: Sudden arrhythmic cardiac death after infectious or alcohol trigger; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POU4F1 | Achchuthan Shanmugasundram reviewed gene: POU4F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33783914; Phenotypes: POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POU3F3 | Achchuthan Shanmugasundram reviewed gene: POU3F3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31303265; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POU1F1 | Achchuthan Shanmugasundram reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1509262, 12629113, 15928241, 2634610, 9626142, 1302000, 16968807, 8768831, 11297581, 1472057, 7670563; Phenotypes: POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:613038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POT1 | Achchuthan Shanmugasundram reviewed gene: POT1: Rating: RED; Mode of pathogenicity: Other; Publications: 27013236; Phenotypes: Coats Plus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PORCN | Achchuthan Shanmugasundram reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 18325042, 17546031, 17546030; Phenotypes: FOCAL DERMAL HYPOPLASIA, OMIM:305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMT2 | Achchuthan Shanmugasundram reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 19138766, 17878207, 16701995, 17634419, 17923109, 15894594; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2, OMIM:613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMT1 | Achchuthan Shanmugasundram reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053679, 19299310, 11320179, 17878207, 15037715, 14678799, 12369018, 31311558, 22549409, 16717220; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1, OMIM:236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMP | Achchuthan Shanmugasundram reviewed gene: POMP: Rating: RED; Mode of pathogenicity: Other; Publications: 20226437; Phenotypes: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, OMIM:601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMK | Achchuthan Shanmugasundram reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: ; Publications: 32907597, 31833209, 24556084, 24925318; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMGNT2 | Achchuthan Shanmugasundram reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22958903; Phenotypes: WALKER WARBERG SYNDROME, OMIM:614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMGNT1 | Achchuthan Shanmugasundram reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 12588800, 22419172, 17878207, 15236414, 11709191, 18195152, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3, OMIM:613157, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3), OMIM:253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR3GL | Achchuthan Shanmugasundram reviewed gene: POLR3GL: Rating: RED; Mode of pathogenicity: ; Publications: 31089205; Phenotypes: Endosteal Hyperostosis and Oligodontia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR3B | Achchuthan Shanmugasundram reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 33417887; Phenotypes: POLR3B-related neurodevelopmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, OMIM:614381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR3A | Achchuthan Shanmugasundram reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 21855841, 12605447, 22036171, 17159124, 30414627; Phenotypes: Autosomal Recessive Wiedemann Rautenstrauch Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR2A | Achchuthan Shanmugasundram reviewed gene: POLR2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33665635, 35461703, 31353023; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR1D | Achchuthan Shanmugasundram reviewed gene: POLR1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131976; Phenotypes: TREACHER COLLINS SYNDROME TYPE 2, OMIM:613717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR1C | Achchuthan Shanmugasundram reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131976, 32042905, 26151409; Phenotypes: POLR1C-related Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR1A | Achchuthan Shanmugasundram reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25913037; Phenotypes: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, OMIM:616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLG | Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A, OMIM:203700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLE | Achchuthan Shanmugasundram reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 30503519, 25948378, 35860951, 23230001; Phenotypes: IMAGe Syndrome with variable immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLD1 | Achchuthan Shanmugasundram reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23770608; Phenotypes: SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLA1 | Achchuthan Shanmugasundram reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31006512; Phenotypes: VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POGZ | Achchuthan Shanmugasundram reviewed gene: POGZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 26942287, 25533962, 30879264, 27103995, 25694107, 26739615, 31782611, 31136090, 26763879, 32103003, 27148570, 28480548, 31347273; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POC1B | Achchuthan Shanmugasundram reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25018096; Phenotypes: AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POC1A | Achchuthan Shanmugasundram reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26336158, 22840364, 22440536, 22840363; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPT1 | Achchuthan Shanmugasundram reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23084291; Phenotypes: RESPIRATORY CHAIN DISORDER, OMIM:614932, HEARING LOSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPO | Achchuthan Shanmugasundram reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: ; Publications: 24266778, 26108646, 24645144, 25762494, 33981986, 24658933, 28818555, 27014579, 26303608, 26535729; Phenotypes: PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPLA6 | Achchuthan Shanmugasundram reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 25574898, 24355708, 25480986; Phenotypes: PNPLA6-related Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPLA2 | Achchuthan Shanmugasundram reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22832386, 17187067; Phenotypes: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, OMIM:610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPLA1 | Achchuthan Shanmugasundram reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CONGENITAL ICHTHYOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNKP | Achchuthan Shanmugasundram reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: 25728773, 20118933; Phenotypes: ATAXIA-OCULOMOTOR APRAXIA 4, OMIM:616267; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PMS2 | Achchuthan Shanmugasundram reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7661930, 26318770; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, OMIM:276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PMPCB | Achchuthan Shanmugasundram reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576218; Phenotypes: Neurodegeneration in Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PMM2 | Achchuthan Shanmugasundram reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 9887379, 10602363, 17307006, 10527672, 9781039, 9497260, 19235233, 9140401, 10801058, 11916319, 10922383; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLXND1 | Achchuthan Shanmugasundram reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35396997, 24254849, 26068067; Phenotypes: MOEBIUS SYNDROME, PLXND1-related cardiac malformation syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLXNA1 | Achchuthan Shanmugasundram reviewed gene: PLXNA1: Rating: RED; Mode of pathogenicity: ; Publications: 34054129; Phenotypes: PLXNA1-associated neurodevelopmental disorder (biallelic), PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLPBP | Achchuthan Shanmugasundram reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27912044; Phenotypes: Vitamin-B6-Dependent Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLP1 | Achchuthan Shanmugasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9056547, 8723686, 1384324, 11071483, 8786077, 7573159, 14452137, 8659540, 7574457, 8956049, 2773936, 1715570, 1605230, 7683951, 1720927, 8320699, 9489796, 17438221, 8696336, 2480601, 3827224, 1707231; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 1, OMIM:312080, SPASTIC PARAPLEGIA X-LINKED TYPE 2, OMIM:312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLOD3 | Achchuthan Shanmugasundram reviewed gene: PLOD3: Rating: RED; Mode of pathogenicity: ; Publications: 18834968; Phenotypes: LYSYL HYDROXYLASE 3 DEFICIENCY, OMIM:612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLOD2 | Achchuthan Shanmugasundram reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35278031, 15523624; Phenotypes: BRUCK SYNDROME TYPE 2, OMIM:609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLOD1 | Achchuthan Shanmugasundram reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8163671, 5016372, 1345174, 9450904; Phenotypes: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM, OMIM:225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLK4 | Achchuthan Shanmugasundram reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25344692; Phenotypes: MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY, OMIM:616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLEC | Achchuthan Shanmugasundram reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35579050; Phenotypes: Epidermolysis Bullosa Simplex and limb-girdle muscular dystrophy, OMIM:613723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCH1 | Achchuthan Shanmugasundram reviewed gene: PLCH1: Rating: RED; Mode of pathogenicity: Other; Publications: 33820834; Phenotypes: HPE-related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCG2 | Achchuthan Shanmugasundram reviewed gene: PLCG2: Rating: RED; Mode of pathogenicity: ; Publications: 23000145; Phenotypes: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, OMIM:614468, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED, OMIM:614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCE1 | Achchuthan Shanmugasundram reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20591883, 17086182; Phenotypes: NEPHROTIC SYNDROME, TYPE 3, OMIM:610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCB4 | Achchuthan Shanmugasundram reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCB1 | Achchuthan Shanmugasundram reviewed gene: PLCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20833646; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, OMIM:613722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLAA | Achchuthan Shanmugasundram reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28413018; Phenotypes: Lethal Infantile Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLA2G6 | Achchuthan Shanmugasundram reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PKHD1 | Achchuthan Shanmugasundram reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19021639, 12506140, 11919560; Phenotypes: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, OMIM:263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PKD1L1 | Achchuthan Shanmugasundram reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616478, 35691949; Phenotypes: Laterality defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PITX3 | Achchuthan Shanmugasundram reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15286169; Phenotypes: ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, OMIM:107250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PITX2 | Achchuthan Shanmugasundram reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11301317, 15591271, 11487566, 7581385, 8944018, 22224469, 8942889; Phenotypes: RING DERMOID OF CORNEA, OMIM:180550, AXENFELD-RIEGER SYNDROME TYPE 1, OMIM:180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PITX1 | Achchuthan Shanmugasundram reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18950742, 22258522; Phenotypes: HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS, CONGENITAL CLUBFOOT, OMIM:119800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIP5K1C | Achchuthan Shanmugasundram reviewed gene: PIP5K1C: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIK3R2 | Achchuthan Shanmugasundram reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26860062, 22729224; Phenotypes: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIK3R1 | Achchuthan Shanmugasundram reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23810379, 28472977, 23810378, 22351933; Phenotypes: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OMIM:615214, SHORT SYNDROME, OMIM:269880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIK3CA | Achchuthan Shanmugasundram reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22658544, 22729224; Phenotypes: HEMIMEGALENCEPHALY PIK3CA, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIH1D3 | Achchuthan Shanmugasundram reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28041644, 28176794; Phenotypes: X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGY | Achchuthan Shanmugasundram reviewed gene: PIGY: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26293662; Phenotypes: Glycosylphosphatidylinositol deficiency, OMIM:610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGW | Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: RED; Mode of pathogenicity: Other; Publications: 24367057; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 5, OMIM:616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGV | Achchuthan Shanmugasundram reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17351347, 20802478; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGU | Achchuthan Shanmugasundram reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31353022; Phenotypes: Intellectual Disability, Central Nervous System anomalies and Scoliosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGT | Achchuthan Shanmugasundram reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23636107, 24906948; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OMIM:615398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGS | Achchuthan Shanmugasundram reviewed gene: PIGS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269814; Phenotypes: Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGQ | Achchuthan Shanmugasundram reviewed gene: PIGQ: Rating: RED; Mode of pathogenicity: ; Publications: 24463883; Phenotypes: SEVERE EARLY-ONSET EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGO | Achchuthan Shanmugasundram reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: ; Publications: 22683086; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 2, OMIM:614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGN | Achchuthan Shanmugasundram reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21493957, 36322149; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME, OMIM:614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGM | Achchuthan Shanmugasundram reviewed gene: PIGM: Rating: RED; Mode of pathogenicity: Other; Publications: 16767100; Phenotypes: Glycosylphosphatidylinositol deficiency, OMIM:610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGL | Achchuthan Shanmugasundram reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444671; Phenotypes: ZUNICH NEUROECTODERMAL SYNDROME, OMIM:280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGK | Achchuthan Shanmugasundram reviewed gene: PIGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 32220290; Phenotypes: PIGK-associated Neurodevelopmental Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGH | Achchuthan Shanmugasundram reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603516, 29573052; Phenotypes: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGG | Achchuthan Shanmugasundram reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: 26996948; Phenotypes: Intellectual Disability with Seizures and Hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGB | Achchuthan Shanmugasundram reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: ; Publications: 31256876; Phenotypes: Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGA | Achchuthan Shanmugasundram reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22305531; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OMIM:300868; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIEZO2 | Achchuthan Shanmugasundram reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27974811, 27653382, 27912047, 24726473; Phenotypes: Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception, ARTHROGRYPOSIS, DISTAL, TYPE 3, OMIM:114300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIEZO1 | Achchuthan Shanmugasundram reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387913; Phenotypes: Congenital lymphatic dysplasia with hydrops and/or lymphoedema; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIDD1 | Achchuthan Shanmugasundram reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33414379; Phenotypes: PIDD1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIBF1 | Achchuthan Shanmugasundram reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29695797, 26167768; Phenotypes: JOUBERT SYNDROME 33, OMIM:617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PI4KA | Achchuthan Shanmugasundram reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 34415310, 34415322, 25855803; Phenotypes: PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHOX2B | Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16691592, 16888290, 12640453, 12438263, 15024693; Phenotypes: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, OMIM:209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHIP | Achchuthan Shanmugasundram reviewed gene: PHIP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 29209020; Phenotypes: Developmental delay, ID, obesity and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHGDH | Achchuthan Shanmugasundram reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 11055895, 11034457, 24836451, 19235232; Phenotypes: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, OMIM:601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHF8 | Achchuthan Shanmugasundram reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 10398231, 17594395, 16199551, 17661819; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED SIDERIUS TYPE, OMIM:300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHF6 | Achchuthan Shanmugasundram reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: ; Publications: 35662002, 15466013, 12415272, 15994862; Phenotypes: BOERJESON-FORSSMAN-LEHMANN SYNDROME, OMIM:301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHF21A | Achchuthan Shanmugasundram reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36843358, 36876344; Phenotypes: POTOCKI-SHAFFER SYNDROME, OMIM:601224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHC1 | Achchuthan Shanmugasundram reviewed gene: PHC1: Rating: RED; Mode of pathogenicity: Other; Publications: 23418308; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHACTR1 | Achchuthan Shanmugasundram reviewed gene: PHACTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23033978, 30256902; Phenotypes: PHACTR1-associated neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGM3 | Achchuthan Shanmugasundram reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24931394; Phenotypes: IMMUNODEFICIENCY 23, OMIM:615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGM2L1 | Achchuthan Shanmugasundram reviewed gene: PGM2L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33979636; Phenotypes: PGM2L1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGM1 | Achchuthan Shanmugasundram reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19625727; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, OMIM:614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGK1 | Achchuthan Shanmugasundram reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16567715, 9512313, 1586722, 8673469, 1547346, 6933565, 16740138, 19157875, 9744480, 6941312; Phenotypes: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OMIM:300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGAP3 | Achchuthan Shanmugasundram reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24439110; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 4, OMIM:615716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGAP2 | Achchuthan Shanmugasundram reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGAP1 | Achchuthan Shanmugasundram reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25804403, 26050939, 24784135; Phenotypes: Intellectual disability, encephalopathy, impaired GPI-anchor maturation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX7 | Achchuthan Shanmugasundram reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9090381, 9090382, 10083738, 12325024, 9090383; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11, OMIM:601757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX6 | Achchuthan Shanmugasundram reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4, OMIM:601498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX5 | Achchuthan Shanmugasundram reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 7719337; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX3 | Achchuthan Shanmugasundram reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12, OMIM:603164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX26 | Achchuthan Shanmugasundram reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: 12851857; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX2 | Achchuthan Shanmugasundram reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14630978, 10528859; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5, OMIM:170993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX19 | Achchuthan Shanmugasundram reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX16 | Achchuthan Shanmugasundram reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9, OMIM:603360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX14 | Achchuthan Shanmugasundram reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX13 | Achchuthan Shanmugasundram reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13, OMIM:601789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX12 | Achchuthan Shanmugasundram reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3, OMIM:601758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX11B | Achchuthan Shanmugasundram reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28129423, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B, OMIM:614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX10 | Achchuthan Shanmugasundram reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7, OMIM:602859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX1 | Achchuthan Shanmugasundram reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398847; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1, OMIM:602136; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PET100 | Achchuthan Shanmugasundram reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEPD | Achchuthan Shanmugasundram reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 8900231, 1972707, 19308961, 17142620, 16470701, 2365824, 6637477, 15309682; Phenotypes: PROLIDASE DEFICIENCY, OMIM:170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PECR | Achchuthan Shanmugasundram reviewed gene: PECR: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDSS2 | Achchuthan Shanmugasundram reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186472; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 3, OMIM:614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDSS1 | Achchuthan Shanmugasundram reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17332895; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 2, OMIM:614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDIA6 | Achchuthan Shanmugasundram reviewed gene: PDIA6: Rating: RED; Mode of pathogenicity: ; Publications: 33495992, 35856135; Phenotypes: PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDHX | Achchuthan Shanmugasundram reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 17152059, 16566017, 11935326, 9399911, 8584393, 12557299, 8229524, 9467010; Phenotypes: LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, OMIM:245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDHA1 | Achchuthan Shanmugasundram reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8199595, 1909778, 1909401, 3137520, 10486093, 1293379, 12379317, 9686362, 7573035, 1907799, 2378353, 2537010, 8771169, 8032855; Phenotypes: INTELLECTUAL DISABILTIY, OMIM:312170, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, OMIM:312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDGFRB | Achchuthan Shanmugasundram reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30941910, 32291752, 29226947, 26279204, 28639748, 23731542, 25454926; Phenotypes: FAMILIAL INFANTILE MYOFIBROMATOSIS, OMIM:228550, KOSAKI OVERGROWTH SYNDROME, OMIM:616592, PREMATURE AGING SYNDROME, PENTTINEN TYPE, OMIM:601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE6H | Achchuthan Shanmugasundram reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: 27472364, 22901948, 15629837; Phenotypes: ACHROMATOPSIA, RETINAL CONE DYSTROPHY 3 PDE6H, OMIM:610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE6G | Achchuthan Shanmugasundram reviewed gene: PDE6G: Rating: GREEN; Mode of pathogenicity: ; Publications: 20655036; Phenotypes: RETINITIS PIGMENTOSA 57, OMIM:613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE4D | Achchuthan Shanmugasundram reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22464250, 22464252, 23033274; Phenotypes: ACRODYSOSTOSIS, OMIM:101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE10A | Achchuthan Shanmugasundram reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058447; Phenotypes: Childhood-Onset Chorea with Bilateral Striatal Lesions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDCD10 | Achchuthan Shanmugasundram reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380626, 15543491; Phenotypes: CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3, OMIM:603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCYT2 | Achchuthan Shanmugasundram reviewed gene: PCYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32889549, 31637422; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCYT1A | Achchuthan Shanmugasundram reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28272537, 24387990, 24387991; Phenotypes: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, OMIM:608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCNT | Achchuthan Shanmugasundram reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: 18174396, 15372530, 19839044; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, OMIM:210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCGF2 | Achchuthan Shanmugasundram reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30526864; Phenotypes: Craniofacial Neurological Cardiovascular and Skeletal Features, INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCDHGC4 | Achchuthan Shanmugasundram reviewed gene: PCDHGC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 34244665; Phenotypes: PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCDH19 | Achchuthan Shanmugasundram reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469813, 19752159, 5116697, 19214208; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCDH12 | Achchuthan Shanmugasundram reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28804758, 27164683, 30178464, 29556033, 30459466; Phenotypes: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCCB | Achchuthan Shanmugasundram reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROPIONIC ACIDEMIA, OMIM:606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCCA | Achchuthan Shanmugasundram reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12189489, 8225321, 10101253, 8411997, 9683601, 9385377, 10820128, 9887338, 17966092, 8295402; Phenotypes: PROPIONIC ACIDEMIA, OMIM:606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCBP2 | Achchuthan Shanmugasundram reviewed gene: PCBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PCBP2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCBD1 | Achchuthan Shanmugasundram reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9585615, 8352282; Phenotypes: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, OMIM:264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PC | Achchuthan Shanmugasundram reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: 9585002, 9585612, 19306334, 12112657; Phenotypes: PYRUVATE CARBOXYLASE DEFICIENCY, OMIM:266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PBX1 | Achchuthan Shanmugasundram reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35451537; Phenotypes: PBX1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX9 | Achchuthan Shanmugasundram reviewed gene: PAX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TOOTH AGENESIS, SELECTIVE, 3, OMIM:604625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX8 | Achchuthan Shanmugasundram reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: ; Publications: 11232006, 15356023, 11502839, 15718293, 9590296; Phenotypes: CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2, OMIM:218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX6 | Achchuthan Shanmugasundram reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 17595013, 7668281, 12721955, 9931324, 15629294, 17148041; Phenotypes: ANIRIDIA, OMIM:106210, PETERS ANOMALY, OMIM:604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX3 | Achchuthan Shanmugasundram reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20478267, 8490648, 7726174, 8664898, 1347148, 35607853, 26443304, 12949970, 14556253, 1303193, 1308353, 8447316, 1887852; Phenotypes: Waardenburg syndrome type 3, WAARDENBURG SYNDROME, TYPE 1, OMIM:193500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX2 | Achchuthan Shanmugasundram reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 3377002, 9106533, 9760197, 2644560, 7795640, 11461952, 11093271; Phenotypes: RENAL-COLOBOMA SYNDROME, OMIM:120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX1 | Achchuthan Shanmugasundram reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23851939, 28657137, 29681087; Phenotypes: OTOFACIOCERVICAL SYNDROME, OMIM:166780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PARP1 | Achchuthan Shanmugasundram reviewed gene: PARP1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PARN | Achchuthan Shanmugasundram reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25893599; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, OMIM:616353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAPSS2 | Achchuthan Shanmugasundram reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9714015, 22791835, 19474428; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE, OMIM:612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAN2 | Achchuthan Shanmugasundram reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35304602; Phenotypes: PAN2-related neurodevelopmental disorder with multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PALB2 | Achchuthan Shanmugasundram reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17200672, 17200671; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP N, OMIM:610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAK3 | Achchuthan Shanmugasundram reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12884430, 18523455, 8826460, 17853471, 24556213, 9332663; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 30, OMIM:300558, AGENESIS OF THE CORPUS CALLOSUM; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAK1 | Achchuthan Shanmugasundram reviewed gene: PAK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290153; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAH | Achchuthan Shanmugasundram reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 1671810, 2816939, 8098245, 1975559, 1301200, 1301947, 8829656, 1301201, 2840952, 2014802, 1709636, 2044609, 2564729, 8097261, 11935335, 2035532, 2573272, 2071149, 2309142, 9950317, 1769645, 1671881, 1360590, 1997387, 1363838, 3008810, 1301193, 1363837, 1312992, 7981714, 1358789, 8364546, 1349576, 2606484, 2574002, 1682235, 2884570, 1679030, 8088845; Phenotypes: NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA, OMIM:261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAFAH1B1 | Achchuthan Shanmugasundram reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15007136, 10441340, 11502906, 14581661; Phenotypes: LISSENCEPHALY TYPE 1, OMIM:607432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PACS2 | Achchuthan Shanmugasundram reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28867141, 30290155; Phenotypes: Unspecified Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PACS1 | Achchuthan Shanmugasundram reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23159249; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | P4HTM | Achchuthan Shanmugasundram reviewed gene: P4HTM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35908151, 34285383, 30940925, 32965080; Phenotypes: Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | P4HB | Achchuthan Shanmugasundram reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25683117; Phenotypes: COLE-CARPENTER SYNDROME, OMIM:112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | P3H1 | Achchuthan Shanmugasundram reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19088120, 17277775; Phenotypes: OSTEOGENESIS IMPERFECTA, TYPE VIII, OMIM:610915; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OXR1 | Achchuthan Shanmugasundram reviewed gene: OXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31785787; Phenotypes: Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OXCT1 | Achchuthan Shanmugasundram reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10964512, 23281106, 1405472, 9671268; Phenotypes: SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY, OMIM:245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTX2 | Achchuthan Shanmugasundram reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15846561, 26974134, 28388256, 27299576, 20396904, 18628516, 19956411, 19965921, 18854396; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 5, OMIM:610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTULIN | Achchuthan Shanmugasundram reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523608, 27686184, 27559085; Phenotypes: Otulin-related auto inflammatory syndrome, OMIM:617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTUD7A | Achchuthan Shanmugasundram reviewed gene: OTUD7A: Rating: RED; Mode of pathogenicity: ; Publications: 29395074; Phenotypes: 15q13.3 deletions phenocopy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTUD6B | Achchuthan Shanmugasundram reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28343629; Phenotypes: Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTUD5 | Achchuthan Shanmugasundram reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33748114, 33131077, 33523931; Phenotypes: OTUD5-associated neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTOGL | Achchuthan Shanmugasundram reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122586; Phenotypes: MODERATE SENSORINEURAL HEARING LOSS, OMIM:614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTC | Achchuthan Shanmugasundram reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 1480464, 7860064, 2347583, 3170748, 2037279, 9056557, 2035531, 11260212, 10405441, 1721894, 1353535, 2843770; Phenotypes: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OMIM:311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OSGEP | Achchuthan Shanmugasundram reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: Nephrotic syndrome with primary microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ORC6 | Achchuthan Shanmugasundram reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 7710253; Phenotypes: MEIER-GORLIN SYNDROME 3, OMIM:613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ORC4 | Achchuthan Shanmugasundram reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11477602; Phenotypes: MEIER-GORLIN SYNDROME 2, OMIM:613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ORC1 | Achchuthan Shanmugasundram reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21358633; Phenotypes: MEIER-GORLIN SYNDROME 1, OMIM:224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OPHN1 | Achchuthan Shanmugasundram reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20528889, 12805098, 12807966, 9582072, 16158428; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED OPHN1-RELATED, OMIM:300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ONECUT1 | Achchuthan Shanmugasundram reviewed gene: ONECUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34663987; Phenotypes: ONECUT1-associated neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OGT | Achchuthan Shanmugasundram reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OGT-related developmental disorder (hemizygous), OGT-related developmental disorder (X-linked dominant); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OGDHL | Achchuthan Shanmugasundram reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 34800363; Phenotypes: OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OGDH | Achchuthan Shanmugasundram reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36520152, 32383294; Phenotypes: OGDH-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OFD1 | Achchuthan Shanmugasundram reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11950863, 15221448, 19800048, 9482645, 22353940, 16783569, 11179005, 9198060; Phenotypes: ORAL-FACIAL-DIGITAL SYNDROME TYPE 1, OMIM:311200, JOUBERT SYNDROME TYPE 10, OMIM:300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ODC1 | Achchuthan Shanmugasundram reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ODC1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OCRL | Achchuthan Shanmugasundram reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: 15627218, 9632163, 9199559; Phenotypes: DENT DISEASE TYPE 2, OMIM:300555, LOWE OCULOCEREBRORENAL SYNDROME, OMIM:309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OCLN | Achchuthan Shanmugasundram reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: ; Publications: 32240828, 26689621, 20727516, 28179633; Phenotypes: OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OBSL1 | Achchuthan Shanmugasundram reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19481195; Phenotypes: 3-M SYNDROME 2, OMIM:612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NYX | Achchuthan Shanmugasundram reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062471, 11062472, 16670814; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A, OMIM:310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUS1 | Achchuthan Shanmugasundram reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP62 | Achchuthan Shanmugasundram reviewed gene: NUP62: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16786527; Phenotypes: INFANTILE STRIATONIGRAL DEGENERATION, OMIM:271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP54 | Achchuthan Shanmugasundram reviewed gene: NUP54: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333996; Phenotypes: NUP54-related early-onset dystonia with striatal lesions; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP214 | Achchuthan Shanmugasundram reviewed gene: NUP214: Rating: GREEN; Mode of pathogenicity: ; Publications: 31178128; Phenotypes: Acute Febrile Encephalopathy, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP133 | Achchuthan Shanmugasundram reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: 30427554; Phenotypes: GALLOWAY-MOWAT SYNDROME 8, OMIM:618349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP107 | Achchuthan Shanmugasundram reviewed gene: NUP107: Rating: RED; Mode of pathogenicity: ; Publications: 28280135, 26411495; Phenotypes: GALLOWAY-MOWAT SYNDROME 7, OMIM:618348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUDT2 | Achchuthan Shanmugasundram reviewed gene: NUDT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30059600, 27431290, 33058507; Phenotypes: NUDT2-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUBPL | Achchuthan Shanmugasundram reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NTRK2 | Achchuthan Shanmugasundram reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NTRK1 | Achchuthan Shanmugasundram reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10233776, 19250380, 10330344, 8145823, 10982191, 8696348, 10090906, 10861667; Phenotypes: CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS, OMIM:256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NTNG2 | Achchuthan Shanmugasundram reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31372774, 31668703; Phenotypes: Developmental delay, hypotonia, and autistic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NT5C3A | Achchuthan Shanmugasundram reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY, OMIM:266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSUN2 | Achchuthan Shanmugasundram reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22541559, 22577224, 21063731, 22541562; Phenotypes: AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5, OMIM:611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSRP1 | Achchuthan Shanmugasundram reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34385670; Phenotypes: NSRP1-associated developmental delay, epilepsy and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSMCE3 | Achchuthan Shanmugasundram reviewed gene: NSMCE3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: DISTINCT DNA BREAKAGE SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSDHL | Achchuthan Shanmugasundram reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476, 11907515, 19842190, 10710235; Phenotypes: CK SYNDROME, OMIM:300831, CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS, OMIM:308050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSD2 | Achchuthan Shanmugasundram reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NSD2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NSD1 | Achchuthan Shanmugasundram reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222665, 12525543, 11896389; Phenotypes: SOTOS SYNDROME, OMIM:117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRXN3 | Achchuthan Shanmugasundram reviewed gene: NRXN3: Rating: RED; Mode of pathogenicity: ; Publications: 22209245; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRXN2 | Achchuthan Shanmugasundram reviewed gene: NRXN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRXN1 | Achchuthan Shanmugasundram reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22405623, 30031152, 30873608, 28289584, 27195815, 23495017; Phenotypes: PITT HOPKINS 2, AUTISM, OMIM:209850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRROS | Achchuthan Shanmugasundram reviewed gene: NRROS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32197075; Phenotypes: NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRCAM | Achchuthan Shanmugasundram reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35108495; Phenotypes: NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NRAS | Achchuthan Shanmugasundram reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19966803; Phenotypes: NOONAN SYNDROME TYPE 6, OMIM:613224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NR4A2 | Achchuthan Shanmugasundram reviewed gene: NR4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NR4A2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NR2F2 | Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24702954; Phenotypes: CONGENITAL HEART DEFECTS and XX sex reversal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NR2F1 | Achchuthan Shanmugasundram reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24462372, 26986877; Phenotypes: BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME, OMIM:615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NR1I3 | Achchuthan Shanmugasundram reviewed gene: NR1I3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: EHMT1-LIKE INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPR3 | Achchuthan Shanmugasundram reviewed gene: NPR3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30032985; Phenotypes: Enhanced Growth and Connective Tissue Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPR2 | Achchuthan Shanmugasundram reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15146390; Phenotypes: ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE, OMIM:602875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPM1 | Achchuthan Shanmugasundram reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31570891; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHS2 | Achchuthan Shanmugasundram reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8589695, 8606597, 12464671, 10742096; Phenotypes: NEPHROTIC SYNDROME, TYPE 2, OMIM:600995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHS1 | Achchuthan Shanmugasundram reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9660941, 10652016, 10577936, 17290294, 11854170; Phenotypes: NEPHROTIC SYNDROME TYPE 1, OMIM:256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHP4 | Achchuthan Shanmugasundram reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12244321; Phenotypes: NEPHRONOPHTHISIS TYPE 4, OMIM:606966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHP3 | Achchuthan Shanmugasundram reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19303681, 12872122; Phenotypes: NEPHRONOPHTHISIS TYPE 3, OMIM:604387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPHP1 | Achchuthan Shanmugasundram reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326933, 9382140, 8852662, 10839884; Phenotypes: NEPHRONOPHTHISIS TYPE 1, OMIM:256100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPC2 | Achchuthan Shanmugasundram reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12447927, 17470133, 11125141, 11567215; Phenotypes: NIEMANN-PICK DISEASE, TYPE C2, OMIM:607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPC1 | Achchuthan Shanmugasundram reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11333381, 9211849, 12554680, 10521297, 10480349, 11479732, 11349231, 9245994; Phenotypes: NIEMANN-PICK DISEASE, TYPE C1, OMIM:257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOVA2 | Achchuthan Shanmugasundram reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32197073; Phenotypes: Intellectual disability with ataxia/spasticity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOTCH3 | Achchuthan Shanmugasundram reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: Other; Publications: 23731542; Phenotypes: INFANTILE MYOFIBROMATOSIS, OMIM:615293; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOTCH2 | Achchuthan Shanmugasundram reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21378985, 21378989, 21712856; Phenotypes: HAJDU-CHENEY SYNDROME, OMIM:102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOTCH1 | Achchuthan Shanmugasundram reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25132448, 16025100; Phenotypes: LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION, OMIM:109730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOP10 | Achchuthan Shanmugasundram reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: Other; Publications: 17507419; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, OMIM:224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NONO | Achchuthan Shanmugasundram reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: 36426740, 26571461, 27329731; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOG | Achchuthan Shanmugasundram reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: ; Publications: 12089654, 15770128, 17668388, 11846737, 10069712, 11545688, 20503332; Phenotypes: NOG-related-symphalangism spectrum disorder , OMIM:186500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NODAL | Achchuthan Shanmugasundram reviewed gene: NODAL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NMNAT1 | Achchuthan Shanmugasundram reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22842229, 24830548, 26464178, 22842227, 26316326, 24940029, 12734549, 22842230; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NLGN4X | Achchuthan Shanmugasundram reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NLGN3 | Achchuthan Shanmugasundram reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12669065; Phenotypes: AUTISM SPECTRUM DISORDERS, OMIM:198890; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKX6-2 | Achchuthan Shanmugasundram reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28575651; Phenotypes: Progressive Spastic Ataxia and Hypomyelination; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKX3-2 | Achchuthan Shanmugasundram reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, OMIM:613330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKX2-5 | Achchuthan Shanmugasundram reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19948535, 16418214, 11714651, 20807224; Phenotypes: ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, OMIM:108900, TETRALOGY OF FALLOT, OMIM:187500, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5, OMIM:225250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKX2-1 | Achchuthan Shanmugasundram reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15289765; Phenotypes: CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, OMIM:610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKAP | Achchuthan Shanmugasundram reviewed gene: NKAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31587868; Phenotypes: Marfanoid Habitus and Cognitive Impairment; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NIPBL | Achchuthan Shanmugasundram reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 15318302, 15146185, 11391654, 15146186, 16799922, 35446447; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 1, OMIM:122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NHS | Achchuthan Shanmugasundram reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 15623749, 14564667, 458526, 2246772, 19414485, 11836358; Phenotypes: NANCE-HORAN SYNDROME, OMIM:302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NHP2 | Achchuthan Shanmugasundram reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18523010; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, OMIM:613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NHLRC2 | Achchuthan Shanmugasundram reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34165204, 32435055, 29423877; Phenotypes: NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NGLY1 | Achchuthan Shanmugasundram reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24651605; Phenotypes: CONGENITAL DISORDER OF DEGLYCOSYLATION, OMIM:615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFU1 | Achchuthan Shanmugasundram reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11156534, 22077971; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, OMIM:605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFIX | Achchuthan Shanmugasundram reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: ; Publications: 22301465, 20673863, 29897170; Phenotypes: MARSHALL-SMITH SYNDROME, OMIM:602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFIB | Achchuthan Shanmugasundram reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388402; Phenotypes: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFIA | Achchuthan Shanmugasundram reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17530927; Phenotypes: Macrocephaly with intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFE2L2 | Achchuthan Shanmugasundram reviewed gene: NFE2L2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29018201; Phenotypes: NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NF1 | Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11258625, 1745350, 9529361, 12483293, 10712197, 1937470, 12438263, 9003501, 1302608, 1783401, 12707950, 15523642, 15520408, 7655472, 9668168, 11704931, 10677298, 30308447, 7633431, 13680360, 8317503, 8664912, 1719426, 1568247, 19449407, 19845691, 15948193; Phenotypes: NEUROFIBROMATOSIS TYPE 1, OMIM:162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEXMIF | Achchuthan Shanmugasundram reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: ; Publications: 33144681, 23615299, 26576034, 15466006, 27568816, 27358180; Phenotypes: NEXMIF-related Intellectual disability and epilepsy (XLR), OMIM:300912, NEXMIF-related Intellectual disability and epilepsy (XLD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEU1 | Achchuthan Shanmugasundram reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11829139, 11702224, 10944856, 14695530, 10767332, 8985184, 11470272, 9054950; Phenotypes: SIALIDOSIS, OMIM:256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEK8 | Achchuthan Shanmugasundram reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: ; Publications: 18199800, 23418306; Phenotypes: NEPHRONOPHTHISIS 9, OMIM:613824, RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, OMIM:615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEK1 | Achchuthan Shanmugasundram reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT RIB-POLYDACTYLY SYNDORME, TYPE II, OMIM:263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEDD4L | Achchuthan Shanmugasundram reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27694961, 23934111, 28515470; Phenotypes: Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NECTIN4 | Achchuthan Shanmugasundram reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20691405, 21346770, 1646587; Phenotypes: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, OMIM:613573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NECTIN1 | Achchuthan Shanmugasundram reviewed gene: NECTIN1: Rating: RED; Mode of pathogenicity: ; Publications: 10932188; Phenotypes: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OMIM:225060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEB | Achchuthan Shanmugasundram reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27105866, 10051637, 27933661; Phenotypes: AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY, OMIM:256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFV2 | Achchuthan Shanmugasundram reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26008862, 33811136; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFV1 | Achchuthan Shanmugasundram reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFS8 | Achchuthan Shanmugasundram reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFS7 | Achchuthan Shanmugasundram reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFS4 | Achchuthan Shanmugasundram reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFS1 | Achchuthan Shanmugasundram reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010, LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFB8 | Achchuthan Shanmugasundram reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29429571; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFB7 | Achchuthan Shanmugasundram reviewed gene: NDUFB7: Rating: RED; Mode of pathogenicity: ; Publications: 33502047; Phenotypes: NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFB3 | Achchuthan Shanmugasundram reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27091925, 22499348, 22277967; Phenotypes: NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFB11 | Achchuthan Shanmugasundram reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFAF8 | Achchuthan Shanmugasundram reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 31866046; Phenotypes: NDUFAF8-related Leigh Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFAF2 | Achchuthan Shanmugasundram reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA9 | Achchuthan Shanmugasundram reviewed gene: NDUFA9: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA8 | Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 32385911; Phenotypes: NDUFA8-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA6 | Achchuthan Shanmugasundram reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Early Onset Isolated Mitochondrial Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA12 | Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33715266, 21617257; Phenotypes: NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA10 | Achchuthan Shanmugasundram reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME DUP, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA1 | Achchuthan Shanmugasundram reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDST1 | Achchuthan Shanmugasundram reviewed gene: NDST1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDP | Achchuthan Shanmugasundram reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: ; Publications: 7627181, 1307245, 8790105, 7814011, 24801666, 9382152, 17334993, 8069314, 8268931, 16163268, 17296899, 9143918, 1303264, 8240113, 8990009; Phenotypes: NORRIE DISEASE, OMIM:310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDNF | Achchuthan Shanmugasundram reviewed gene: NDNF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883645; Phenotypes: NDNF-related Congenital Hypogonadotrophic Hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDE1 | Achchuthan Shanmugasundram reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21529752, 21529751; Phenotypes: LISSENCEPHALY 4, OMIM:614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCOR1 | Achchuthan Shanmugasundram reviewed gene: NCOR1: Rating: RED; Mode of pathogenicity: ; Publications: 30289594, 27824329; Phenotypes: NCOR1-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCKAP1 | Achchuthan Shanmugasundram reviewed gene: NCKAP1: Rating: RED; Mode of pathogenicity: ; Publications: 33157009; Phenotypes: NCKAP1-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCDN | Achchuthan Shanmugasundram reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33711248; Phenotypes: NCDN-associated neurodevelopmental disorder with seizures (monoallelic), NCDN-associated neurodevelopmental disorder with seizures (biallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCAPH | Achchuthan Shanmugasundram reviewed gene: NCAPH: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCAPG2 | Achchuthan Shanmugasundram reviewed gene: NCAPG2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30609410; Phenotypes: Severe Neurodevelopmental Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCAPD3 | Achchuthan Shanmugasundram reviewed gene: NCAPD3: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: Microcephaly with short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NCAPD2 | Achchuthan Shanmugasundram reviewed gene: NCAPD2: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: Microcephaly with short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NBN | Achchuthan Shanmugasundram reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590180, 3802554; Phenotypes: NIJMEGEN BREAKAGE SYNDROME, OMIM:251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NBEA | Achchuthan Shanmugasundram reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269351; Phenotypes: NBEA Neurodevelopment disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NBAS | Achchuthan Shanmugasundram reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26073778; Phenotypes: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, OMIM:616483, ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAXE | Achchuthan Shanmugasundram reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616477; Phenotypes: Lethal Neurometabolic Disorder of Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAXD | Achchuthan Shanmugasundram reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: ; Publications: 30576410; Phenotypes: Neurodegenerative disorder exacerbated by febrile illnesses; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NARS2 | Achchuthan Shanmugasundram reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32020600, 25807530, 28716262, 28077841, 25385316, 30327238, 35703918, 34415467, 25629079; Phenotypes: NARS2-associated oxidative phosphorylation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NARS | Achchuthan Shanmugasundram reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32738225, 32788587; Phenotypes: NARS1 Neurodevelopmental Disorder (monoallelic), NARS1 Neurodevelopmental Disorder (biallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAPB | Achchuthan Shanmugasundram reviewed gene: NAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28097321, 26235277, 33189936; Phenotypes: NAPB-related Neurodevelopmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NANS | Achchuthan Shanmugasundram reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27213289; Phenotypes: infantile-onset severe developmental delay and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NALCN | Achchuthan Shanmugasundram reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683120, 24075186, 23749988; Phenotypes: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAGS | Achchuthan Shanmugasundram reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: ; Publications: 12594532, 12754705; Phenotypes: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, OMIM:237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAGLU | Achchuthan Shanmugasundram reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: 11068184, 21937992, 12202988, 10094189, 8650226, 9832037; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3B, OMIM:252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAGA | Achchuthan Shanmugasundram reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 2564952, 2243144, 8071745, 11251574, 8782044; Phenotypes: KANZAKI DISEASE, OMIM:609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAE1 | Achchuthan Shanmugasundram reviewed gene: NAE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36608681; Phenotypes: NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NADSYN1 | Achchuthan Shanmugasundram reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883644, 35491967; Phenotypes: NADSYN1-related Congenital NAD Deficiency Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NADK2 | Achchuthan Shanmugasundram reviewed gene: NADK2: Rating: RED; Mode of pathogenicity: ; Publications: 24847004; Phenotypes: Dienoyl-CoA reductase deficiency with hyperlysinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NACC1 | Achchuthan Shanmugasundram reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28132692; Phenotypes: Infantile Epilepsy, Cataracts, and Profound Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAA20 | Achchuthan Shanmugasundram reviewed gene: NAA20: Rating: RED; Mode of pathogenicity: Other; Publications: 34230638; Phenotypes: NAA20-associated developmental delay and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAA15 | Achchuthan Shanmugasundram reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: ; Publications: 23665959, 29656860, 28191889; Phenotypes: CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAA10 | Achchuthan Shanmugasundram reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: ; Publications: 24431331, 30842225, 21700266, 25099252; Phenotypes: X-linked anophthalmia syndrome, OGDEN SYNDROME, OMIM:300855, NONPECIFIC SEVERE ID; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYT1L | Achchuthan Shanmugasundram reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 28859103; Phenotypes: MYT1L syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYT1 | Achchuthan Shanmugasundram reviewed gene: MYT1: Rating: RED; Mode of pathogenicity: ; Publications: 27358179; Phenotypes: OAVS/Goldenhar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYSM1 | Achchuthan Shanmugasundram reviewed gene: MYSM1: Rating: RED; Mode of pathogenicity: ; Publications: 26220525, 32640305, 28115216, 33618624, 24288411; Phenotypes: MYSM1-related congenital bone marrow failure, OMIM:618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYRF | Achchuthan Shanmugasundram reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31069960, 29446546, 30532227, 30070761; Phenotypes: Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYPN | Achchuthan Shanmugasundram reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017374; Phenotypes: Childhood-Onset, Slowly Progressive Nemaline Myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYOCD | Achchuthan Shanmugasundram reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 31513549; Phenotypes: Congenital megabladder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYOC | Achchuthan Shanmugasundram reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYO7A | Achchuthan Shanmugasundram reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 7870171, 9171833; Phenotypes: DEAFNESS AUTOSOMAL RECESSIVE TYPE 2, OMIM:600060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYO5B | Achchuthan Shanmugasundram reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19006234, 18724368; Phenotypes: MICROVILLUS INCLUSION DISEASE, OMIM:251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYO5A | Achchuthan Shanmugasundram reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22711375, 9207796, 12148598; Phenotypes: GRISCELLI SYNDROME TYPE 3, OMIM:609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYO18B | Achchuthan Shanmugasundram reviewed gene: MYO18B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25748484, 31195167, 27858739, 32184166, 32637634; Phenotypes: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM, OMIM:616549; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYLPF | Achchuthan Shanmugasundram reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32707087; Phenotypes: MYLPF arthrogryposis (monoallelic), MYLPF arthrogryposis (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYLK | Achchuthan Shanmugasundram reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: ; Publications: 28602422; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYL1 | Achchuthan Shanmugasundram reviewed gene: MYL1: Rating: RED; Mode of pathogenicity: ; Publications: 30215711; Phenotypes: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH9 | Achchuthan Shanmugasundram reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10973259, 25077172; Phenotypes: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS, OMIM:155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH8 | Achchuthan Shanmugasundram reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: ; Publications: 28377322, 15282353; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, CARNEY COMPLEX VARIANT, OMIM:608837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH6 | Achchuthan Shanmugasundram reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: 29536580, 15735645, 31638415, 20656787, 29969989, 29505555, 34481090; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 3, OMIM:614089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH3 | Achchuthan Shanmugasundram reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29805041, 18695058, 16642020; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700, Recessive Spondylocarpotarsal Synostosis Syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH11 | Achchuthan Shanmugasundram reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: ; Publications: 25407000, 29575632; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH10 | Achchuthan Shanmugasundram reviewed gene: MYH10: Rating: RED; Mode of pathogenicity: ; Publications: 25003005, 25356899; Phenotypes: MYH10-related Multiple congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYF5 | Achchuthan Shanmugasundram reviewed gene: MYF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 29887215; Phenotypes: External Ophthalmoplegia, Rib, and Vertebral Anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYCN | Achchuthan Shanmugasundram reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15821734, 16906565, 18671284, 18470948; Phenotypes: FEINGOLD SYNDROME TYPE 1, OMIM:164280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYCBP2 | Achchuthan Shanmugasundram reviewed gene: MYCBP2: Rating: RED; Mode of pathogenicity: ; Publications: 36200388; Phenotypes: MYCBP2-related developmental delay with corpus callosum defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYBPC1 | Achchuthan Shanmugasundram reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31264822, 31966463, 22610851, 26661508, 25679999, 20045868; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915, MYBPC1-related arthrogryposis and myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MUT | Achchuthan Shanmugasundram reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1670635, 11528502, 1977311, 7909321, 7951229, 2881300, 16451139, 16281286, 1968706, 17966092; Phenotypes: METHYLMALONIC ACIDURIA TYPE MUT, OMIM:251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTSS1L | Achchuthan Shanmugasundram reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36067766; Phenotypes: MTSS2-associated syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTRR | Achchuthan Shanmugasundram reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: 15714522, 9501215, 12555939; Phenotypes: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, OMIM:236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTR | Achchuthan Shanmugasundram reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8968737, 12068375, 8968736, 9683607; Phenotypes: METHYLCOBALAMIN DEFICIENCY TYPE G, OMIM:250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTOR | Achchuthan Shanmugasundram reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23934111, 28892148; Phenotypes: Smith-Kingsmore syndrome, OMIM:616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTO1 | Achchuthan Shanmugasundram reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22608499; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS, OMIM:614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTM1 | Achchuthan Shanmugasundram reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9285787, 8640223, 12707446, 7611280, 9450905, 12859411, 11552027, 10790201; Phenotypes: MYOTUBULAR MYOPATHY, X-LINKED, OMIM:310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTHFR | Achchuthan Shanmugasundram reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, OMIM:236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTF1 | Achchuthan Shanmugasundram reviewed gene: MTF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MT-TP | Achchuthan Shanmugasundram reviewed gene: MT-TP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MERRF, OMIM:545000; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MT-TL1 | Achchuthan Shanmugasundram reviewed gene: MT-TL1: Rating: RED; Mode of pathogenicity: Other; Publications: 34075211; Phenotypes: MT-TL1-associated mitochondrial disorder; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSX2 | Achchuthan Shanmugasundram reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14571277; Phenotypes: ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM, OMIM:168550, CRANIOSYNOSTOSIS, TYPE 2, OMIM:604757; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSX1 | Achchuthan Shanmugasundram reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11369996, 12807959, 15354328; Phenotypes: CLEFT LIP +/- CLEFT PALATE, OMIM:608874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSL3 | Achchuthan Shanmugasundram reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30224647; Phenotypes: MSL3 syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSL2 | Achchuthan Shanmugasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 31332282; Phenotypes: MSL2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSI1 | Achchuthan Shanmugasundram reviewed gene: MSI1: Rating: RED; Mode of pathogenicity: Other; Publications: 28572454; Phenotypes: MSI1-associated Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRPS34 | Achchuthan Shanmugasundram reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777931; Phenotypes: Leigh Syndrome with Instability of the Small Mitoribosomal Subunit; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRPS22 | Achchuthan Shanmugasundram reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17873122; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, OMIM:611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRPS2 | Achchuthan Shanmugasundram reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576219; Phenotypes: Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRE11 | Achchuthan Shanmugasundram reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: ; Publications: 11371508, 24332946, 15269180, 10612394; Phenotypes: ATAXIA TELANGIECTASIA-LIKE DISORDER, OMIM:604391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRAS | Achchuthan Shanmugasundram reviewed gene: MRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28289718, 31173466, 31108500; Phenotypes: NOONAN SYNDROME 11, OMIM:618499; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPZ | Achchuthan Shanmugasundram reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15184631, 8816708, 12953275, 26310628; Phenotypes: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPV17 | Achchuthan Shanmugasundram reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: 16582910, 18695062; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 6, OMIM:256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPLKIP | Achchuthan Shanmugasundram reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1, OMIM:234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPI | Achchuthan Shanmugasundram reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: ; Publications: 9525984, 9585601, 3080572; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPDZ | Achchuthan Shanmugasundram reviewed gene: MPDZ: Rating: RED; Mode of pathogenicity: ; Publications: 23240096; Phenotypes: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPDU1 | Achchuthan Shanmugasundram reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11733556, 11733564; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPC2 | Achchuthan Shanmugasundram reviewed gene: MPC2: Rating: RED; Mode of pathogenicity: Other; Publications: 36417180; Phenotypes: MPC2-related metabolic disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MORC2 | Achchuthan Shanmugasundram reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32693025, 30624633, 28771897, 26497905; Phenotypes: MORC2 - axonal neuropathy and neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MOGS | Achchuthan Shanmugasundram reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MOCS2 | Achchuthan Shanmugasundram reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOLYBDENUM COFACTOR DEFICIENCY, OMIM:603707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MOCS1 | Achchuthan Shanmugasundram reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOLYBDENUM COFACTOR DEFICIENCY, OMIM:603707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MNX1 | Achchuthan Shanmugasundram reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15216552, 16906559, 10631160, 7550324, 9843207; Phenotypes: CURRARINO SYNDROME, OMIM:176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MN1 | Achchuthan Shanmugasundram reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31839203, 31834374; Phenotypes: MN1 C-terminal truncation syndrome , OMIM:618774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMP21 | Achchuthan Shanmugasundram reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437028, 26437029, 26429889; Phenotypes: MMP21-associated heterotaxy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMP15 | Achchuthan Shanmugasundram reviewed gene: MMP15: Rating: RED; Mode of pathogenicity: ; Publications: 34988996, 33875846; Phenotypes: MMP15-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMP14 | Achchuthan Shanmugasundram reviewed gene: MMP14: Rating: RED; Mode of pathogenicity: Other; Publications: 22922033; Phenotypes: WINCHESTER SYNDROME, OMIM:277950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMP13 | Achchuthan Shanmugasundram reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19615667, 8412645; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE, OMIM:602111, METAPHYSEAL ANADYSPLASIA TYPE 1, OMIM:602111; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMGT1 | Achchuthan Shanmugasundram reviewed gene: MMGT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: MMGT1-related developmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMADHC | Achchuthan Shanmugasundram reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD, OMIM:277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMACHC | Achchuthan Shanmugasundram reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631720, 16311595, 16714133, 25687216, 11320193; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, OMIM:277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMAB | Achchuthan Shanmugasundram reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 12471062; Phenotypes: METHYLMALONIC ACIDURIA TYPE CBLB, OMIM:251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MMAA | Achchuthan Shanmugasundram reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12438653; Phenotypes: METHYLMALONIC ACIDURIA TYPE CBLA, OMIM:251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MLYCD | Achchuthan Shanmugasundram reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MALONYL-COA DECARBOXYLASE DEFICIENCY, OMIM:248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MLC1 | Achchuthan Shanmugasundram reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11935341, 11254442, 12189496, 21624973, 14615938; Phenotypes: LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS, OMIM:604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MKS1 | Achchuthan Shanmugasundram reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17377820, 16415886; Phenotypes: BARDET-BIEDL SYNDROME TYPE 13, OMIM:615990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MKKS | Achchuthan Shanmugasundram reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10802661; Phenotypes: MCKUSICK-KAUFMAN SYNDROME, OMIM:236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MITF | Achchuthan Shanmugasundram reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 8490648, 9158138, 10851256, 7874167, 9856573, 8589691, 27889061; Phenotypes: TIETZ SYNDROME, OMIM:103500, WAARDENBURG SYNDROME TYPE 2A, OMIM:193510, Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MIR184 | Achchuthan Shanmugasundram reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: Other; Publications: 24138095, 23833072, 27195078, 25373792, 21996275; Phenotypes: EDICT SYNDROME, OMIM:614303, KERATOCONUS WITH CATARACT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MIR17HG | Achchuthan Shanmugasundram reviewed gene: MIR17HG: Rating: GREEN; Mode of pathogenicity: ; Publications: 21892160; Phenotypes: FEINGOLD SYNDROME, OMIM:614326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MID1 | Achchuthan Shanmugasundram reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17221865, 12545276, 15558842; Phenotypes: OPITZ G/BBB SYNDROME, X-LINKED, OMIM:300000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MICU1 | Achchuthan Shanmugasundram reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24336167; Phenotypes: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, OMIM:615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MIB1 | Achchuthan Shanmugasundram reviewed gene: MIB1: Rating: RED; Mode of pathogenicity: ; Publications: 33057194, 30322850; Phenotypes: MIB1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MGP | Achchuthan Shanmugasundram reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: ; Publications: 9916809, 15810001; Phenotypes: KEUTEL SYNDROME, OMIM:245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MGAT2 | Achchuthan Shanmugasundram reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8808595, 11228641, 20684000; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A, OMIM:212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFSD8 | Achchuthan Shanmugasundram reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS, OMIM:610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFSD2A | Achchuthan Shanmugasundram reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26005865; Phenotypes: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, OMIM:616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFRP | Achchuthan Shanmugasundram reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 15976030, 17167404, 1258954; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 5, OMIM:611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFN2 | Achchuthan Shanmugasundram reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: MFN2-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFF | Achchuthan Shanmugasundram reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: ; Publications: 26783368, 30581454, 22499341, 32181496; Phenotypes: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2, OMIM:617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | METTL5 | Achchuthan Shanmugasundram reviewed gene: METTL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 31564433; Phenotypes: Autosomal-Recessive Intellectual Disability and Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | METTL23 | Achchuthan Shanmugasundram reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: ; Publications: 32067349, 24626631, 24501276; Phenotypes: METTL23-related Intellectual Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MESP2 | Achchuthan Shanmugasundram reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15122512, 18485326; Phenotypes: SPONDYLOCOSTAL DYSOSTOSIS TYPE 2, OMIM:608681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MESD | Achchuthan Shanmugasundram reviewed gene: MESD: Rating: GREEN; Mode of pathogenicity: ; Publications: 31564437; Phenotypes: OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEOX1 | Achchuthan Shanmugasundram reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: KLIPPEL-FEIL ANOMALY, OMIM:118100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEIS2 | Achchuthan Shanmugasundram reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MEIS2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEGF8 | Achchuthan Shanmugasundram reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CARPENTER SYNDROME, OMIM:201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEGF10 | Achchuthan Shanmugasundram reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 17236770, 22101682, 22371254; Phenotypes: MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, OMIM:614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEF2C | Achchuthan Shanmugasundram reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 19592390, 34022131, 35719119, 20513142, 23001426; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS, OMIM:613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED27 | Achchuthan Shanmugasundram reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: ; Publications: 33443317; Phenotypes: MED27-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED25 | Achchuthan Shanmugasundram reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31602195, 25792360, 25527630, 32324310; Phenotypes: Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED23 | Achchuthan Shanmugasundram reviewed gene: MED23: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 18, OMIM:614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED17 | Achchuthan Shanmugasundram reviewed gene: MED17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20950787; Phenotypes: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, OMIM:613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED13L | Achchuthan Shanmugasundram reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: ; Publications: 25712080, 29511999, 29959045, 25758992, 25137640, 24781760, 28371282, 28645799, 29159987, 23403903; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED13 | Achchuthan Shanmugasundram reviewed gene: MED13: Rating: GREEN; Mode of pathogenicity: ; Publications: 29740699; Phenotypes: MED13 - Neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED12 | Achchuthan Shanmugasundram reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33244166, 31536828, 6711603, 17369503, 24123922, 17334363, 24715367, 28544239, 27980443, 27312080, 33244165, 30006928, 27286923, 27500536, 35385210; Phenotypes: LUJAN-FRYNS SYNDROME, OMIM:309520, OPITZ-KAVEGGIA SYNDROME, OMIM:305450, MED12-related developmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED11 | Achchuthan Shanmugasundram reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36001086; Phenotypes: MED11-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MECR | Achchuthan Shanmugasundram reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27817865; Phenotypes: Childhood-Onset Dystonia and Optic Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MECP2 | Achchuthan Shanmugasundram reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689435, 10232754, 11313756, 11402105, 19034540, 11007980, 9377804, 10814718, 15034579, 10854091, 29618507, 11238684, 16966553, 12481990, 10508514, 10767337, 11022934, 16630165, 12615169, 15857422, 18989701, 10577905, 11930274, 11807877, 11214906; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED LUBS TYPE, OMIM:300260, CHROMOSOME XQ28 DUPLICATION SYNDROME, OMIM:300815, RETT SYNDROME (RTT), OMIM:312750, ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS, OMIM:300673; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MECOM | Achchuthan Shanmugasundram reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MDH2 | Achchuthan Shanmugasundram reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27989324; Phenotypes: Early-Onset Severe Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCPH1 | Achchuthan Shanmugasundram reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20978018, 7693575, 16311745, 12046007, 11857108; Phenotypes: MICROCEPHALY PRIMARY TYPE 1, OMIM:251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCOLN1 | Achchuthan Shanmugasundram reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11030752, 10441585, 10973263, 15523648, 17239335; Phenotypes: MUCOLIPIDOSIS IV, OMIM:252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCEE | Achchuthan Shanmugasundram reviewed gene: MCEE: Rating: GREEN; Mode of pathogenicity: ; Publications: 16752391; Phenotypes: METHYLMALONYL-COA EPIMERASE DEFICIENCY, OMIM:251120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCCC2 | Achchuthan Shanmugasundram reviewed gene: MCCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OMIM:210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCCC1 | Achchuthan Shanmugasundram reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY, OMIM:210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MC2R | Achchuthan Shanmugasundram reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: ; Publications: 18407210, 18492762, 8636348, 8094489, 8227361, 12213892; Phenotypes: GLUCOCORTICOID DEFICIENCY 1, OMIM:202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MBOAT7 | Achchuthan Shanmugasundram reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616480; Phenotypes: Intellectual Disability Accompanied by Epilepsy and Autistic Features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MBD5 | Achchuthan Shanmugasundram reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23422940; Phenotypes: EHMT1-LIKE INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAU2 | Achchuthan Shanmugasundram reviewed gene: MAU2: Rating: RED; Mode of pathogenicity: ; Publications: 32433956; Phenotypes: MAU2 neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MATN3 | Achchuthan Shanmugasundram reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 14729835, 13849708, 11479597, 15948199; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5, OMIM:607078; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAT1A | Achchuthan Shanmugasundram reviewed gene: MAT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 7560086, 4421454, 3812486, 8770875, 1527987, 7229751, 1683972, 10677294; Phenotypes: METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, OMIM:250850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAST1 | Achchuthan Shanmugasundram reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MAST1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MASP1 | Achchuthan Shanmugasundram reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21258343, 21035106, 17937425; Phenotypes: 3MC SYNDROME 1, OMIM:257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPRE2 | Achchuthan Shanmugasundram reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637975; Phenotypes: Circumferential Skin Creases Kunze Type, OMIM:156610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPKAPK5 | Achchuthan Shanmugasundram reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575217, 33442026; Phenotypes: MAPKAPK5-associated syndrome with synpolydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPK8IP3 | Achchuthan Shanmugasundram reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30612693; Phenotypes: Intellectual Disability with Variable Brain Anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPK10 | Achchuthan Shanmugasundram reviewed gene: MAPK10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, OMIM:606369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPK1 | Achchuthan Shanmugasundram reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32721402; Phenotypes: MAPK1-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP3K7 | Achchuthan Shanmugasundram reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27426733, 27426734; Phenotypes: FRONTOMETAPHYSEAL DYSPLASIA, OMIM:617137; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP3K1 | Achchuthan Shanmugasundram reviewed gene: MAP3K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21129722, 5419329, 12476449; Phenotypes: 46XY SEX REVERSAL 6, OMIM:613762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP2K2 | Achchuthan Shanmugasundram reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP2K1 | Achchuthan Shanmugasundram reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAOA | Achchuthan Shanmugasundram reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24169519; Phenotypes: BRUNNER SYNDROME, OMIM:300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MANBA | Achchuthan Shanmugasundram reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1499588, 16401745, 3762648, 2079835, 12890191, 1623631; Phenotypes: LYSOSOMAL BETA-MANNOSIDOSIS, OMIM:248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAN2C1 | Achchuthan Shanmugasundram reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35045343; Phenotypes: MAN2C1-associated neurodevelopmental disorder with cerebral malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAN2B1 | Achchuthan Shanmugasundram reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9758606, 9158146, 4358183, 22161967; Phenotypes: LYSOSOMAL ALPHA-MANNOSIDOSIS, OMIM:248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAN2A2 | Achchuthan Shanmugasundram reviewed gene: MAN2A2: Rating: RED; Mode of pathogenicity: Other; Publications: 36357165; Phenotypes: MAN2A2-related disorder of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAN1B1 | Achchuthan Shanmugasundram reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992, 26279649, 24566669, 26577042, 21763484, 24348268; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAMLD1 | Achchuthan Shanmugasundram reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17086185; Phenotypes: X-LINKED HYPOSPADIAS TYPE 2, OMIM:300758; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAGT1 | Achchuthan Shanmugasundram reviewed gene: MAGT1: Rating: RED; Mode of pathogenicity: ; Publications: 18455129; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 95, OMIM:300716; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAGI2 | Achchuthan Shanmugasundram reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: ; Publications: 18565486; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAGEL2 | Achchuthan Shanmugasundram reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27195816, 26365340, 24076603; Phenotypes: Schaaf-Yang syndrome, OMIM:615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAFB | Achchuthan Shanmugasundram reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27181683, 22387013; Phenotypes: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300, Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAF | Achchuthan Shanmugasundram reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11772997, 24664492, 16470690; Phenotypes: CATARACT 21, MULTIPLE TYPES, OMIM:610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MADD | Achchuthan Shanmugasundram reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: ; Publications: 32761064; Phenotypes: MADD-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MACF1 | Achchuthan Shanmugasundram reviewed gene: MACF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30471716; Phenotypes: Defects in Neuronal Migration and Axon Guidance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAB21L2 | Achchuthan Shanmugasundram reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25719200, 24906020, 26116559; Phenotypes: MICROPHTHALMIA, SYNDROMIC 14, OMIM:615877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAB21L1 | Achchuthan Shanmugasundram reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30487245, 27103078; Phenotypes: Cerebello-Oculo-Facio-Genital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LZTR1 | Achchuthan Shanmugasundram reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29959388, 31825158, 25795793, 30859559, 30664951, 30368668, 31533111; Phenotypes: NOONAN SYNDROME 10, OMIM:616564, Noonan syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LYST | Achchuthan Shanmugasundram reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 9215680, 11857544, 8896560, 8751863, 10482950, 9215679, 8751864; Phenotypes: CHEDIAK-HIGASHI SYNDROME, OMIM:214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LTBP3 | Achchuthan Shanmugasundram reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25669657; Phenotypes: PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA, OMIM:601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LTBP2 | Achchuthan Shanmugasundram reviewed gene: LTBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20617341, 19361779, 22025892, 19656777, 20179738; Phenotypes: MICROSPHEROPHAKIA, OMIM:251750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LTBP1 | Achchuthan Shanmugasundram reviewed gene: LTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33991472; Phenotypes: LTBP1-related cutis laxa and craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRRC6 | Achchuthan Shanmugasundram reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122589; Phenotypes: PRIMARY CILIARY DYSKINESIA, OMIM:614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRRC56 | Achchuthan Shanmugasundram reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388400; Phenotypes: Mucociliary Clearance and Laterality Defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRPPRC | Achchuthan Shanmugasundram reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: ; Publications: 12529507; Phenotypes: LEIGH SYNDROME, FRENCH-CANADIAN TYPE, OMIM:220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRPAP1 | Achchuthan Shanmugasundram reviewed gene: LRPAP1: Rating: RED; Mode of pathogenicity: ; Publications: 23830514; Phenotypes: EXTREME MYOPIA, MYOPIA 23, AUTOSOMAL RECESSIVE, OMIM:615431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRP6 | Achchuthan Shanmugasundram reviewed gene: LRP6: Rating: RED; Mode of pathogenicity: ; Publications: 26963285; Phenotypes: Tooth Agenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRP5 | Achchuthan Shanmugasundram reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 15981244, 14727154, 11719191, 9056564, 15024691, 20034086, 12579474, 11741193, 9831343; Phenotypes: VITREORETINOPATHY EXUDATIVE TYPE 4, OMIM:601813, ENDOSTEAL HYPEROSTOSIS WORTH TYPE, OMIM:144750, HIGH BONE MASS TRAIT, OMIM:601884, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, OMIM:607634, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OMIM:259770; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRP4 | Achchuthan Shanmugasundram reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 18978656, 9182770, 11260233, 14577675, 10756427, 12868467, 20381006; Phenotypes: CENANI-LENZ SYNDACTYLY SYNDROME, OMIM:212780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRP2 | Achchuthan Shanmugasundram reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 29388841, 23992033, 23033978, 19577669; Phenotypes: DONNAI-BARROW SYNDROME, OMIM:222448, INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRIT3 | Achchuthan Shanmugasundram reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23246293; Phenotypes: AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS, OMIM:615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRIG2 | Achchuthan Shanmugasundram reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UROFACIAL SYNDROME, OMIM:236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRBA | Achchuthan Shanmugasundram reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22608502; Phenotypes: CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA, OMIM:614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRAT | Achchuthan Shanmugasundram reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LONP1 | Achchuthan Shanmugasundram reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34547244, 25574826; Phenotypes: CODAS SYNDROME, OMIM:600373, LONP1-associated congenital diaphragmatic hernia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LNPK | Achchuthan Shanmugasundram reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: ; Publications: 35599435, 30032983; Phenotypes: LNPK-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMX1B | Achchuthan Shanmugasundram reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 10854116, 9837817, 9590287, 9618165, 18414507; Phenotypes: NAIL-PATELLA SYNDROME, OMIM:161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMOD3 | Achchuthan Shanmugasundram reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31572445, 30642739, 28815944, 30291184, 25250574, 29331079, 32008911; Phenotypes: NEMALINE MYOPATHY 10, OMIM:616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMNB2 | Achchuthan Shanmugasundram reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33033404; Phenotypes: LMNB2-related Primary Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMNB1 | Achchuthan Shanmugasundram reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32910914, 33033404; Phenotypes: LMNB1-associated developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMNA | Achchuthan Shanmugasundram reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655060, 10587585; Phenotypes: EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588, HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMBRD2 | Achchuthan Shanmugasundram reviewed gene: LMBRD2: Rating: RED; Mode of pathogenicity: Other; Publications: 32820033; Phenotypes: LMBRD2-associated intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMBRD1 | Achchuthan Shanmugasundram reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19136951; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF, OMIM:277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIPT2 | Achchuthan Shanmugasundram reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28757203; Phenotypes: Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIPT1 | Achchuthan Shanmugasundram reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27247813, 24341803, 24256811; Phenotypes: Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIPN | Achchuthan Shanmugasundram reviewed gene: LIPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21439540; Phenotypes: ICHTHYOSIS, LAMELLAR, 4, OMIM:613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LINS1 | Achchuthan Shanmugasundram reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LINGO1 | Achchuthan Shanmugasundram reviewed gene: LINGO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28837161; Phenotypes: LINGO1 related intellectual disability with microcephaly, speech and motor delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIG4 | Achchuthan Shanmugasundram reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 16357942, 11779494; Phenotypes: LIG4 SYNDROME, OMIM:606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIFR | Achchuthan Shanmugasundram reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27194968, 14740318; Phenotypes: Stuve-Wiedeman syndrome, OMIM:601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIAS | Achchuthan Shanmugasundram reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22152680, 26108146; Phenotypes: Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LHX4 | Achchuthan Shanmugasundram reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:290135; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LHX3 | Achchuthan Shanmugasundram reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18407919, 10835633, 17327381; Phenotypes: PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3, OMIM:221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LGI4 | Achchuthan Shanmugasundram reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28318499; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LFNG | Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16385447; Phenotypes: SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LETM1 | Achchuthan Shanmugasundram reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36055214; Phenotypes: LETM1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LEMD3 | Achchuthan Shanmugasundram reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19438932, 12749062, 17223882, 15489854, 9295073; Phenotypes: BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LEMD2 | Achchuthan Shanmugasundram reviewed gene: LEMD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30905398; Phenotypes: Nuclear Envelopathy with Early Progeroid Appearance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LEFTY2 | Achchuthan Shanmugasundram reviewed gene: LEFTY2: Rating: RED; Mode of pathogenicity: ; Publications: 10053005; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LDB3 | Achchuthan Shanmugasundram reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LBR | Achchuthan Shanmugasundram reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12618959; Phenotypes: HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA, OMIM:215140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAS1L | Achchuthan Shanmugasundram reviewed gene: LAS1L: Rating: RED; Mode of pathogenicity: Other; Publications: 25644381, 34653234; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LARS2 | Achchuthan Shanmugasundram reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541342; Phenotypes: PERRAULT SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LARP7 | Achchuthan Shanmugasundram reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 26374271, 26607181; Phenotypes: ALAZAMI SYNDROME, OMIM:615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LARGE1 | Achchuthan Shanmugasundram reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436019, 19299310, 12966029, 21248746, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH INTELLECTUAL DEVELOPMENTAL DISORDER TYPE B6, OMIM:608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMP2 | Achchuthan Shanmugasundram reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15907287, 8504498, 12112061, 10972294, 15253947, 15673802, 3087571; Phenotypes: DANON DISEASE, OMIM:300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMC3 | Achchuthan Shanmugasundram reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21572413; Phenotypes: OCCIPITAL CORTICAL MALFORMATIONS, OMIM:614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMB1 | Achchuthan Shanmugasundram reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES, OMIM:615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMA2 | Achchuthan Shanmugasundram reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12601554, 11591858, 18700894, 9158149, 7550355, 11071490, 16216942, 12552556; Phenotypes: CONGENITAL MUSCULAR DYSTROPHY, OMIM:607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMA1 | Achchuthan Shanmugasundram reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 25105227; Phenotypes: CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY, OMIM:615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAGE3 | Achchuthan Shanmugasundram reviewed gene: LAGE3: Rating: RED; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: GALLOWAY-MOWAT SYNDROME 2, OMIM:301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | L2HGDH | Achchuthan Shanmugasundram reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 15385440, 19911013; Phenotypes: L-2-HYDROXYGLUTARIC ACIDURIA, OMIM:236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | L1CAM | Achchuthan Shanmugasundram reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 3460961, 15368500, 9643285, 7920660, 9279760, 8401576, 15148591, 1303258, 8929944, 18136715, 11857550, 26916325, 8401593, 7881431, 7920659; Phenotypes: HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS, OMIM:307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KRT74 | Achchuthan Shanmugasundram reviewed gene: KRT74: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21188418; Phenotypes: HYPOTRICHOSIS SIMPLEX OF THE SCALP 2, OMIM:613981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KRIT1 | Achchuthan Shanmugasundram reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KRAS | Achchuthan Shanmugasundram reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16773572, 16474405, 19396835; Phenotypes: NOONAN SYNDROME TYPE 3, OMIM:609942, CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KPTN | Achchuthan Shanmugasundram reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239382; Phenotypes: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KPNA7 | Achchuthan Shanmugasundram reviewed gene: KPNA7: Rating: RED; Mode of pathogenicity: Other; Publications: 24045845; Phenotypes: Gomez-Lopez-Fernandes syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT5B | Achchuthan Shanmugasundram reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 28135719; Phenotypes: KMT5B syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2E | Achchuthan Shanmugasundram reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079897, 34321323; Phenotypes: KMT2E-related neurodevelopmental disorder/O'Donnell-Luria-Rodan syndrome, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2D | Achchuthan Shanmugasundram reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29283410, 27573763, 31935506, 28404210, 31949313, 29482518, 25944076, 24739679, 32083401, 27302555, 25142838, 30569626, 25972376, 27530205, 35060672, 20711175, 21607748, 29914387, 28295206, 21671394; Phenotypes: KMT2D multiple malformations disorder, KABUKI SYNDROME, OMIM:147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2C | Achchuthan Shanmugasundram reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 29069077; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2B | Achchuthan Shanmugasundram reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839873, 27992417; Phenotypes: Complex early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2A | Achchuthan Shanmugasundram reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24818805, 22795537, 25929198, 30841869, 32311999, 24886118, 31250358, 27759909, 28815892, 25810209, 29203834, 31044088, 31168168, 27777327, 30549396, 27320412; Phenotypes: WIEDEMANN-STEINER SYNDROME, OMIM:605130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLHL7 | Achchuthan Shanmugasundram reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29074562, 27392078; Phenotypes: Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLHL40 | Achchuthan Shanmugasundram reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746549; Phenotypes: NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE, OMIM:615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLHL15 | Achchuthan Shanmugasundram reviewed gene: KLHL15: Rating: RED; Mode of pathogenicity: ; Publications: 25644381; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLF8 | Achchuthan Shanmugasundram reviewed gene: KLF8: Rating: RED; Mode of pathogenicity: ; Publications: 22495311; Phenotypes: NONSYNDROMIC INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLF7 | Achchuthan Shanmugasundram reviewed gene: KLF7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29251763; Phenotypes: KLF7-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLF1 | Achchuthan Shanmugasundram reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21055716; Phenotypes: ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV, OMIM:613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KITLG | Achchuthan Shanmugasundram reviewed gene: KITLG: Rating: RED; Mode of pathogenicity: Other; Publications: 26522471; Phenotypes: WAARDENBURG SYNDROME TYPE 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIT | Achchuthan Shanmugasundram reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HUMAN PIEBALDISM, OMIM:172800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIRREL3 | Achchuthan Shanmugasundram reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: Other; Publications: 19012874; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 4, OMIM:612581; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF7 | Achchuthan Shanmugasundram reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, ACROCALLOSAL SYNDROME, OMIM:200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF5C | Achchuthan Shanmugasundram reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, OMIM:615282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF5B | Achchuthan Shanmugasundram reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36018820, 35342932; Phenotypes: KIF5B-related disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF5A | Achchuthan Shanmugasundram reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27463701, 27414745; Phenotypes: KIF5A-associated severe neonatal myoclonus, OMIM:617235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF4A | Achchuthan Shanmugasundram reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: ; Publications: 24812067; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF3B | Achchuthan Shanmugasundram reviewed gene: KIF3B: Rating: RED; Mode of pathogenicity: Other; Publications: 32386558; Phenotypes: KIF3B-related ciliopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF2A | Achchuthan Shanmugasundram reviewed gene: KIF2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF22 | Achchuthan Shanmugasundram reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22152678, 19277648; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, OMIM:603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF1BP | Achchuthan Shanmugasundram reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: ; Publications: 15883926; Phenotypes: GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, OMIM:609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF1A | Achchuthan Shanmugasundram reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25253658, 25265257, 26125038, 26486474, 21820098, 30385166, 21376300, 32096284, 26354034; Phenotypes: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OMIM:614213, NESCAV SYNDROME, OMIM:614255; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF14 | Achchuthan Shanmugasundram reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: ; Publications: 28892560, 24128419; Phenotypes: Severe microcephaly and short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF11 | Achchuthan Shanmugasundram reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284827, 15930898; Phenotypes: AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY, OMIM:152950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIDINS220 | Achchuthan Shanmugasundram reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: 27005418, 28934391, 32909676; Phenotypes: KIDINS220-related Developmental Disorder, biallelic, Spastic paraplegia, intellectual disability, nystagmus, and obesity., OMIM:617296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIAA1109 | Achchuthan Shanmugasundram reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25558065, 29290337; Phenotypes: Brain atrophy, Dandy Walker and Contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIAA0586 | Achchuthan Shanmugasundram reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029, 26026149; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIAA0391 | Achchuthan Shanmugasundram reviewed gene: KIAA0391: Rating: RED; Mode of pathogenicity: ; Publications: 34715011; Phenotypes: PRORP-related mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM6B | Achchuthan Shanmugasundram reviewed gene: KDM6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, KDM6B-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM6A | Achchuthan Shanmugasundram reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23076834, 22197486; Phenotypes: KABUKI SYNDROME 2, OMIM:300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM5C | Achchuthan Shanmugasundram reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203167, 15586325, 19826449, 18697827, 21575681, 16538222; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED JARID1C-RELATED, OMIM:300534; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM5B | Achchuthan Shanmugasundram reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 24307393, 28135719, 30409806, 28720891; Phenotypes: AUTISM, OMIM:209850, Autism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM5A | Achchuthan Shanmugasundram reviewed gene: KDM5A: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM4B | Achchuthan Shanmugasundram reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 33232677; Phenotypes: KDM4B-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM3B | Achchuthan Shanmugasundram reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30929739; Phenotypes: DIETS-JONGMANS SYNDROME, OMIM:618846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM2B | Achchuthan Shanmugasundram reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 36322151; Phenotypes: KDM2B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM1A | Achchuthan Shanmugasundram reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29559475, 26656649; Phenotypes: Developmental delay and distinctive facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDELR2 | Achchuthan Shanmugasundram reviewed gene: KDELR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33053334; Phenotypes: KDELR2-related Osteogenesis Imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCTD7 | Achchuthan Shanmugasundram reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693283, 17455289, 22748208; Phenotypes: PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3, OMIM:611726, NEURONAL CEROID LIPOFUSCINOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCTD1 | Achchuthan Shanmugasundram reviewed gene: KCTD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541344; Phenotypes: SCALP-EAR-NIPPLE SYNDROME, OMIM:181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNT2 | Achchuthan Shanmugasundram reviewed gene: KCNT2: Rating: RED; Mode of pathogenicity: Other; Publications: 29740868; Phenotypes: Developmental and infantile epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNT1 | Achchuthan Shanmugasundram reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23086397, 23086396; Phenotypes: MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY, SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNQ5 | Achchuthan Shanmugasundram reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: ; Publications: 28669405; Phenotypes: Intellectual Disability with or without Epileptic Encephalopathy, Intellectual Disability with or without Epileptic Encephalopathy, activating; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNQ3 | Achchuthan Shanmugasundram reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: KCNQ3 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNQ2 | Achchuthan Shanmugasundram reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25880994, 28832002, 27602407, 15249611, 28687180, 22926866, 25566516, 17872363, 27861786, 28728838, 25092550, 9430594, 23774309, 30107960, 11175290, 24107868, 11572947, 28631195, 31199083, 10323247, 23692823, 23621294, 31152295, 29687029, 31951342, 9425895, 16235065, 24371303, 22169383, 31418850, 30530441, 22275249, 12742592; Phenotypes: BENIGN NEONATAL EPILEPSY TYPE 1, OMIM:121200, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7, OMIM:613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNQ1 | Achchuthan Shanmugasundram reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1, OMIM:220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNN3 | Achchuthan Shanmugasundram reviewed gene: KCNN3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31155282; Phenotypes: ZIMMERMANN-LABAND SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNMA1 | Achchuthan Shanmugasundram reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34224328, 31152168, 27567911, 15937479, 33178487, 29545233, 32132200, 29330545; Phenotypes: KCNMA1-related developmental delay, seizures and cerebellar atrophy, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, OMIM:609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNK9 | Achchuthan Shanmugasundram reviewed gene: KCNK9: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: BIRK-BAREL SYNDROME, OMIM:612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNK4 | Achchuthan Shanmugasundram reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290154; Phenotypes: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth, FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNK3 | Achchuthan Shanmugasundram reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: KCNK3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNJ8 | Achchuthan Shanmugasundram reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24700710, 24176758, 25275207; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNJ6 | Achchuthan Shanmugasundram reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25620207, 36071510; Phenotypes: KEPPEN-LUBINSKY SYNDROME, OMIM:614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNJ11 | Achchuthan Shanmugasundram reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: 8923010, 9356020; Phenotypes: DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL, OMIM:261090, FAMILIAL HYPERINSULINISM, OMIM:3272; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNJ10 | Achchuthan Shanmugasundram reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: 19420365, 19289823, 21849804, 20651251; Phenotypes: SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-INTELLECTUAL DEVELOPMENTAL DISORDER-ELECTROLYTE IMBALANCE, OMIM:612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNH5 | Achchuthan Shanmugasundram reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36307226, 23647072; Phenotypes: KCNH5-related epilepsy and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNH1 | Achchuthan Shanmugasundram reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25420144; Phenotypes: TEMPLE BARRAISTER SYNDROME, OMIM:611816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNE1 | Achchuthan Shanmugasundram reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30461122; Phenotypes: LONG QT SYNDROME-5, OMIM:613695, JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCND3 | Achchuthan Shanmugasundram reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: KCND3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNC3 | Achchuthan Shanmugasundram reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA TYPE 13, OMIM:605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNC1 | Achchuthan Shanmugasundram reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25401298; Phenotypes: EPILEPSY, PROGRESSIVE MYOCLONIC 7, OMIM:616187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNB1 | Achchuthan Shanmugasundram reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25164438; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, OMIM:616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNA4 | Achchuthan Shanmugasundram reviewed gene: KCNA4: Rating: RED; Mode of pathogenicity: Other; Publications: 27582084; Phenotypes: KCN4 related abnormal striatum, congenital cataract and intellectual disability.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNA2 | Achchuthan Shanmugasundram reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25751627; Phenotypes: EPILEPTIC ENCEPHALOPATHY Gain-of-function, EPILEPTIC ENCEPHALOPATHY Loss-of-function; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNA1 | Achchuthan Shanmugasundram reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: Other; Publications: 30055040, 33355533, 31586945; Phenotypes: KCNA1-related epileptic encephalopathy, biallelic, KCNA1-related epileptic encephalopathy, monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KBTBD13 | Achchuthan Shanmugasundram reviewed gene: KBTBD13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21109227, 21104864, 12805120; Phenotypes: NEMALINE MYOPATHY 6, OMIM:609273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KATNB1 | Achchuthan Shanmugasundram reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25521378, 25521379; Phenotypes: KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KAT6B | Achchuthan Shanmugasundram reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24458743, 29226580, 31871732, 30353918, 26370006, 28426343, 26334766, 28758091, 25424711, 23436491, 30569622, 22265017, 27696664, 30900427, 22077973, 22265014, 28696035, 28232779; Phenotypes: GENITOPATELLAR SYNDROME, OMIM:606170, SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME, OMIM:603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KAT6A | Achchuthan Shanmugasundram reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29899504, 25728777, 30775047, 27133397, 30245513, 25728775, 35892268, 32041641, 31754438; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 32, OMIM:616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KAT5 | Achchuthan Shanmugasundram reviewed gene: KAT5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32822602; Phenotypes: KAT5-related Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KARS | Achchuthan Shanmugasundram reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 20920668, 23768514; Phenotypes: DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916, KARS1-related leukoencephalopathy with or without deafness, OMIM:619147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KANSL1 | Achchuthan Shanmugasundram reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22544363, 22544367; Phenotypes: CHROMOSOME 17Q21.31 MICRODELETION SYNDROME, OMIM:610443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KANK1 | Achchuthan Shanmugasundram reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: ; Publications: 16301218; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2, OMIM:612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JMJD1C | Achchuthan Shanmugasundram reviewed gene: JMJD1C: Rating: RED; Mode of pathogenicity: ; Publications: 26181491, 31954878; Phenotypes: JMJD1C-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JARID2 | Achchuthan Shanmugasundram reviewed gene: JARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33077894, 35533077; Phenotypes: JARID2-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAM3 | Achchuthan Shanmugasundram reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAK3 | Achchuthan Shanmugasundram reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7659163, 10982185, 7481768, 11741532; Phenotypes: SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED, OMIM:600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAGN1 | Achchuthan Shanmugasundram reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25129144; Phenotypes: SEVERE CONGENITAL NEUTROPENIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAG2 | Achchuthan Shanmugasundram reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33861953; Phenotypes: JAG2-related muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAG1 | Achchuthan Shanmugasundram reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35761784; Phenotypes: ALAGILLE SYNDROME, OMIM:118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IVD | Achchuthan Shanmugasundram reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: ; Publications: 1310317, 2063866, 10677295, 15486829; Phenotypes: ISOVALERIC ACIDEMIA, OMIM:243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITPR1 | Achchuthan Shanmugasundram reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27062503, 22986007, 27108798, 27108797; Phenotypes: Gillespie Syndrome, OMIM:206700, Gillespie Syndrome, monoallelic, OMIM:206700, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITGA8 | Achchuthan Shanmugasundram reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RENAL HYPODYSPLASIA/APLASIA 1, OMIM:191830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITGA7 | Achchuthan Shanmugasundram reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590299; Phenotypes: CONGENITAL MUSCULAR DYSTROPHY, OMIM:607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITGA6 | Achchuthan Shanmugasundram reviewed gene: ITGA6: Rating: RED; Mode of pathogenicity: ; Publications: 9185503; Phenotypes: EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA, OMIM:226730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITGA3 | Achchuthan Shanmugasundram reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22512483; Phenotypes: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, OMIM:614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITCH | Achchuthan Shanmugasundram reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20170897; Phenotypes: AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM, OMIM:613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ISPD | Achchuthan Shanmugasundram reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 22522420, 7604843, 22522421, 9492098, 23217329; Phenotypes: WALKER WARBURG SYNDROME, OMIM:614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IRX5 | Achchuthan Shanmugasundram reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND BONE FRAGILITY, OMIM:611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IRF6 | Achchuthan Shanmugasundram reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12920575, 19842205, 14757865, 12219090, 18478600, 14618417, 20803643; Phenotypes: POPLITEAL PTERYGIUM SYNDROME, OMIM:119500, VAN DER WOUDE SYNDROME, OMIM:119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IRF2BPL | Achchuthan Shanmugasundram reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 30193138; Phenotypes: Neurological Phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IREB2 | Achchuthan Shanmugasundram reviewed gene: IREB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35602653, 31243445, 30915432; Phenotypes: IREB2-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IQSEC2 | Achchuthan Shanmugasundram reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24306141, 26793055, 29026562, 26733290, 27665735, 30206421, 23674175, 31415821, 31490346, 31829726, 28295038, 20473311, 28815955, 30666632; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 1, OMIM:309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IQSEC1 | Achchuthan Shanmugasundram reviewed gene: IQSEC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31607425; Phenotypes: Intellectual Disability, Developmental Delay, and Short Stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IPO8 | Achchuthan Shanmugasundram reviewed gene: IPO8: Rating: GREEN; Mode of pathogenicity: ; Publications: 34010604, 34010605; Phenotypes: IPO8-related syndromic thoracic aortic aneurysm; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | INPPL1 | Achchuthan Shanmugasundram reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23273569; Phenotypes: OPSISMODYSPLASIA, OMIM:258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | INPP5K | Achchuthan Shanmugasundram reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28190459, 28190456, 28940338; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | INPP5E | Achchuthan Shanmugasundram reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: 19668215, 19668216; Phenotypes: JOUBERT SYNDROME TYPE 1, OMIM:213300, INTELLECTUAL DEVELOPMENTAL DISORDER-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS, OMIM:610156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | INPP4A | Achchuthan Shanmugasundram reviewed gene: INPP4A: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IMPAD1 | Achchuthan Shanmugasundram reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21549340; Phenotypes: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE, OMIM:614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IL1RAPL1 | Achchuthan Shanmugasundram reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10471494, 18801879, 16470793, 19012350; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 21, OMIM:300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IL11RA | Achchuthan Shanmugasundram reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24498618; Phenotypes: Autosomal Recessive Craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IL11 | Achchuthan Shanmugasundram reviewed gene: IL11: Rating: RED; Mode of pathogenicity: Other; Publications: 21741611; Phenotypes: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, OMIM:614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IKBKG | Achchuthan Shanmugasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: 10839543, 16228229, 11242109, 11224521, 9450877, 15356572, 12045264, 14726382, 15577852, 117248, 16818673, 11047757; Phenotypes: ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED, OMIM:300291, INCONTINENTIA PIGMENTI, OMIM:308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IHH | Achchuthan Shanmugasundram reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12384778, 12525541, 16871364, 19277064, 18629882, 12632327, 11455389; Phenotypes: BRACHYDACTYLY, TYPE A1, OMIM:112500, ACROCAPITOFEMORAL DYSPLASIA, OMIM:607778; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGSF1 | Achchuthan Shanmugasundram reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143598; Phenotypes: CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT, OMIM:300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGHMBP2 | Achchuthan Shanmugasundram reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15290238, 11528396; Phenotypes: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1, OMIM:604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGFBP7 | Achchuthan Shanmugasundram reviewed gene: IGFBP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 12441727; Phenotypes: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, OMIM:614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGF2 | Achchuthan Shanmugasundram reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26154720; Phenotypes: CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME, OMIM:180860, BECKWITH-WIEDEMANN SYNDROME, OMIM:130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGF1R | Achchuthan Shanmugasundram reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 15928254, 14657428, 22130793, 17264177; Phenotypes: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, biallelic, OMIM:270450, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OMIM:270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGF1 | Achchuthan Shanmugasundram reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15769976, 14684690, 8857020; Phenotypes: INSULIN-LIKE GROWTH FACTOR I DEFICIENCY, OMIM:608747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGBP1 | Achchuthan Shanmugasundram reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: Other; Publications: 23871722; Phenotypes: AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT80 | Achchuthan Shanmugasundram reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17468754; Phenotypes: ASPHYXIATING THORACIC DYSTROPHY 2, OMIM:611263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT74 | Achchuthan Shanmugasundram reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: ; Publications: 27486776, 33748949, 32144365, 33531668; Phenotypes: IFT74-associated ciliopathy, OMIM:617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT43 | Achchuthan Shanmugasundram reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21378380; Phenotypes: CRANIOECTODERMAL DYSPLASIA TYPE 3, OMIM:614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT172 | Achchuthan Shanmugasundram reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: ; Publications: 24140113; Phenotypes: MAINZER-SALDINO SYNDROME, OMIM:266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT140 | Achchuthan Shanmugasundram reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: 22503633; Phenotypes: MAINZER-SALDINO SYNDROME, OMIM:266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT122 | Achchuthan Shanmugasundram reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17022080, 19760620, 20493458; Phenotypes: CRANIOECTODERMAL DYSPLASIA, OMIM:218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFITM5 | Achchuthan Shanmugasundram reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22863190, 22863195; Phenotypes: OSTEOGENESIS IMPERFECTA TYPE V, OMIM:610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFIH1 | Achchuthan Shanmugasundram reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24995871, 25620204; Phenotypes: AICARDI-GOUTIERES SYNDROME 7, OMIM:615846, SINGLETON-MERTEN SYNDROME, OMIM:182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IDUA | Achchuthan Shanmugasundram reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8328452, 7951228, 10466419, 4221470, 10735634, 6821579, 7550232, 9391892, 8664897; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 1S, OMIM:607016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IDS | Achchuthan Shanmugasundram reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1284597, 1303211, 1550586, 7581397, 8364592, 1355630, 8940265, 12794697, 1639384; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 2, OMIM:309900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IARS2 | Achchuthan Shanmugasundram reviewed gene: IARS2: Rating: RED; Mode of pathogenicity: ; Publications: 25130867, 28328135; Phenotypes: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, OMIM:616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IARS | Achchuthan Shanmugasundram reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27426735; Phenotypes: Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYLS1 | Achchuthan Shanmugasundram reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15843405; Phenotypes: HYDROLETHALUS SYNDROME TYPE 1, OMIM:236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYDIN | Achchuthan Shanmugasundram reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 23022101, 14985390; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 5, OMIM:608647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYAL2 | Achchuthan Shanmugasundram reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28081210, 34906488; Phenotypes: HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYAL1 | Achchuthan Shanmugasundram reviewed gene: HYAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8793927; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 9, OMIM:601492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HUWE1 | Achchuthan Shanmugasundram reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29180823, 18252223, 23721686; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TURNER TYPE, OMIM:300706; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HTRA2 | Achchuthan Shanmugasundram reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: 27696117; Phenotypes: Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSPG2 | Achchuthan Shanmugasundram reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11101850, 11279527, 11941538; Phenotypes: DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE, OMIM:224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSPD1 | Achchuthan Shanmugasundram reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSF4 | Achchuthan Shanmugasundram reviewed gene: HSF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16876512, 12089525, 29243736, 24637349; Phenotypes: CATARACT 5, MULTIPLE TYPES, OMIM:116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSD3B7 | Achchuthan Shanmugasundram reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, OMIM:607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSD17B4 | Achchuthan Shanmugasundram reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9345094, 10400999, 11992265, 11743515, 9482850, 4061497, 2921319; Phenotypes: D-BIFUNCTIONAL PROTEIN DEFICIENCY, OMIM:261515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSD17B10 | Achchuthan Shanmugasundram reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521307, 12555940, 16148061, 12696021; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TYPE 10, OMIM:300220, 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY, OMIM:300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HS2ST1 | Achchuthan Shanmugasundram reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33159882; Phenotypes: HS2ST1-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HRAS | Achchuthan Shanmugasundram reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17054105, 16835863, 18039947, 18247425, 17412879, 17468812, 16170316, 19995790, 16443854, 17056636; Phenotypes: CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OMIM:218040, COSTELLO SYNDROME, OMIM:218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HR | Achchuthan Shanmugasundram reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: ; Publications: 19897589, 17680008, 9856480, 9758627, 9445480, 10051399, 10777357, 10205263, 10469319, 12271294, 9463324; Phenotypes: ATRICHIA WITH PAPULAR LESIONS, OMIM:209500, ALOPECIA UNIVERSALIS, OMIM:146550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPSE2 | Achchuthan Shanmugasundram reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19839856, 19669792, 11446407, 20560210; Phenotypes: UROFACIAL SYNDROME, OMIM:236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPS1 | Achchuthan Shanmugasundram reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9705234, 9497254, 8274781, 10971344, 8896559; Phenotypes: HERMANSKY-PUDLAK SYNDROME, OMIM:203300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPRT1 | Achchuthan Shanmugasundram reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23975452; Phenotypes: LESCH-NYHAN SYNDROME, OMIM:300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPGD | Achchuthan Shanmugasundram reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CRANIOOSTEOARTHROPATHY, OMIM:259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPDL | Achchuthan Shanmugasundram reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: ; Publications: 32707086; Phenotypes: HPDL Neurodegenerative Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPD | Achchuthan Shanmugasundram reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 10942115; Phenotypes: TYROSINEMIA TYPE 3, OMIM:276710, HAWKINSINURIA, OMIM:140350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXD13 | Achchuthan Shanmugasundram reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12900906, 12414828, 17236141, 9758628, 12649808, 8817328, 19060004; Phenotypes: BRACHYDACTYLY-SYNDACTYLY SYNDROME, OMIM:610713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXC13 | Achchuthan Shanmugasundram reviewed gene: HOXC13: Rating: GREEN; Mode of pathogenicity: ; Publications: 23315978, 23063621; Phenotypes: PURE HAIR AND NAIL ECTODERMAL DYSPLASIA, OMIM:614931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXB1 | Achchuthan Shanmugasundram reviewed gene: HOXB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22770981; Phenotypes: FACIAL PARESIS, HEREDITARY CONGENITAL, 3, OMIM:614744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXA13 | Achchuthan Shanmugasundram reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: ; Publications: 10839976; Phenotypes: HAND-FOOT-GENITAL SYNDROME, OMIM:140000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXA11 | Achchuthan Shanmugasundram reviewed gene: HOXA11: Rating: RED; Mode of pathogenicity: ; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXA1 | Achchuthan Shanmugasundram reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16155570, 18412118; Phenotypes: BOSLEY-SALIH-ALORAINY SYNDROME, OMIM:601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPU | Achchuthan Shanmugasundram reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: 23934111, 35138025; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPR | Achchuthan Shanmugasundram reviewed gene: HNRNPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079900; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPK | Achchuthan Shanmugasundram reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30998304, 29904177; Phenotypes: Au-Kline Syndrome, OMIM:616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPH2 | Achchuthan Shanmugasundram reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27545675; Phenotypes: Neurodevelopmental Disorder in Females; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPH1 | Achchuthan Shanmugasundram reviewed gene: HNRNPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29938792, 32335897; Phenotypes: HNRNPH1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPD | Achchuthan Shanmugasundram reviewed gene: HNRNPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: HNRNPD-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPA2B1 | Achchuthan Shanmugasundram reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35484142; Phenotypes: Early-onset oculopharyngeal muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNF4A | Achchuthan Shanmugasundram reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 8945471, 24285859; Phenotypes: HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1, OMIM:125850, ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY, OMIM:315353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNF1B | Achchuthan Shanmugasundram reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 11085914, 9398836, 11562418, 17440011, 15181075, 10484768, 10720943, 15068978, 12675839, 11317673; Phenotypes: RENAL CYSTS AND DIABETES SYNDROME, OMIM:137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMX1 | Achchuthan Shanmugasundram reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423520, 25574057, 29140751; Phenotypes: OCULOAURICULAR SYNDROME, OMIM:612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGCS2 | Achchuthan Shanmugasundram reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9337379, 12647205, 11228257, 9727719, 11479731; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY, OMIM:605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGCL | Achchuthan Shanmugasundram reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11129331, 9463337, 8617516; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY, OMIM:246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGB3 | Achchuthan Shanmugasundram reviewed gene: HMGB3: Rating: RED; Mode of pathogenicity: ; Publications: 24993872; Phenotypes: Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGB1 | Achchuthan Shanmugasundram reviewed gene: HMGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36755093, 34164801; Phenotypes: HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome, HMGB1-related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HLCS | Achchuthan Shanmugasundram reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, OMIM:253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HK1 | Achchuthan Shanmugasundram reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HK1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIVEP2 | Achchuthan Shanmugasundram reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27003583, 26153216; Phenotypes: HIVEP2 associated syndromic developmental delay with intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST3H3 | Achchuthan Shanmugasundram reviewed gene: HIST3H3: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H4J | Achchuthan Shanmugasundram reviewed gene: HIST1H4J: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Intellectual disability with facial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H4C | Achchuthan Shanmugasundram reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28920961; Phenotypes: HIST1H4C; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H4B | Achchuthan Shanmugasundram reviewed gene: HIST1H4B: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H2AC | Achchuthan Shanmugasundram reviewed gene: HIST1H2AC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HIST1H2AC-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIST1H1E | Achchuthan Shanmugasundram reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: ; Publications: 28475857, 31400068; Phenotypes: Rahman syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIRA | Achchuthan Shanmugasundram reviewed gene: HIRA: Rating: RED; Mode of pathogenicity: ; Publications: 33417013; Phenotypes: HIRA-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HINT1 | Achchuthan Shanmugasundram reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22961002; Phenotypes: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, OMIM:137200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HIBCH | Achchuthan Shanmugasundram reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: ; Publications: 7122152; Phenotypes: HIBCH DEFICIENCY, OMIM:250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HGSNAT | Achchuthan Shanmugasundram reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 18518886, 16960811, 20825431, 17033958, 18024218; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3C, OMIM:252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HEXB | Achchuthan Shanmugasundram reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9888387, 8045559, 3014997, 571983, 2973515, 18758829, 1531140, 2921040, 7633435, 10724; Phenotypes: GM2-GANGLIOSIDOSIS TYPE 2, OMIM:268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HEXA | Achchuthan Shanmugasundram reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: 2140574, 14648242, 9401004, 2848800, 6959123, 1483696, 21937992, 2934978, 1532289, 9272736, 1301190, 8757036, 2522679, 1322637, 2976595, 1384323, 15108204, 1301958, 1827945, 2961848, 1833974, 1837283, 3362213, 9603435, 8490625, 2954459, 1825014, 1302612, 3754980; Phenotypes: GM2-GANGLIOSIDOSIS TYPE 1, OMIM:272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HESX1 | Achchuthan Shanmugasundram reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:319358, SEPTOOPTIC DYSPLASIA, OMIM:182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HERC2 | Achchuthan Shanmugasundram reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32571899, 23243086, 30902390, 23065719; Phenotypes: HERC2-related neurodevelopmental disorder, OMIM:615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HERC1 | Achchuthan Shanmugasundram reviewed gene: HERC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28323226, 27108999, 26153217, 26138117; Phenotypes: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HECW2 | Achchuthan Shanmugasundram reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35753050, 34321324, 27334371, 27389779; Phenotypes: HECW2-associated neurodevelopmental disorder, HECW2-related neurodevelopmental disorder, OMIM:617268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HDAC8 | Achchuthan Shanmugasundram reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29279609, 25102094, 29991052, 22885700, 29519750, 26671848, 24403048; Phenotypes: CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR, Cornelia de Lange Syndrome HDAC8 X-linked dominant; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HDAC4 | Achchuthan Shanmugasundram reviewed gene: HDAC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33537682, 20691407, 30848064; Phenotypes: BRACHYDACTYLY-INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:600430, HDAC4-related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HCN1 | Achchuthan Shanmugasundram reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24747641; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, OMIM:615871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HCFC1 | Achchuthan Shanmugasundram reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23000143, 1870093, 24011988; Phenotypes: COBALAMIN DISORDER, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3, OMIM:309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HCCS | Achchuthan Shanmugasundram reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033964; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 7, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HAX1 | Achchuthan Shanmugasundram reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18611981, 18337561, 19036076, 17187068; Phenotypes: NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, OMIM:610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HARS | Achchuthan Shanmugasundram reviewed gene: HARS: Rating: RED; Mode of pathogenicity: Other; Publications: 22279524; Phenotypes: USHER SYNDROME, OMIM:614504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HADHA | Achchuthan Shanmugasundram reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 7811722; Phenotypes: LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, OMIM:609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HADH | Achchuthan Shanmugasundram reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY, OMIM:231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HACE1 | Achchuthan Shanmugasundram reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029, 26424145; Phenotypes: HACE1 related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HACD1 | Achchuthan Shanmugasundram reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32426512, 33354762, 23933735; Phenotypes: HACD1-related congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HAAO | Achchuthan Shanmugasundram reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: ; Publications: 33942433, 28792876; Phenotypes: NAD deficiency disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | H3F3B | Achchuthan Shanmugasundram reviewed gene: H3F3B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33268356; Phenotypes: H3F3B associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | H3F3A | Achchuthan Shanmugasundram reviewed gene: H3F3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33268356, 33057194, 31942419; Phenotypes: Craniofacial with neurodevelopment disorders, H3F3A associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GZF1 | Achchuthan Shanmugasundram reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28475863; Phenotypes: JOINT LAXITY, SHORT STATURE, AND MYOPIA, OMIM:617662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GUSB | Achchuthan Shanmugasundram reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7633414, 6811712, 12522561, 9490302, 1702266, 7573038, 1833732, 4265197; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 7, OMIM:253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GUCY2C | Achchuthan Shanmugasundram reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 22436048; Phenotypes: FAMILIAL DIARRHEA DIARRHEA 6, OMIM:614616, MECONIUM ILEUS, OMIM:614665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTPBP3 | Achchuthan Shanmugasundram reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434004; Phenotypes: MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTPBP2 | Achchuthan Shanmugasundram reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26675814, 30790272, 29449720; Phenotypes: JABERI-ELAHI SYNDROME, OMIM:617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTF2IRD1 | Achchuthan Shanmugasundram reviewed gene: GTF2IRD1: Rating: RED; Mode of pathogenicity: Other; Publications: 36308390; Phenotypes: GTF2IRD1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTF2H5 | Achchuthan Shanmugasundram reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY PHOTOSENSITIVE, OMIM:601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTF2E2 | Achchuthan Shanmugasundram reviewed gene: GTF2E2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26996949; Phenotypes: DNA Repair-Proficient Trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GSPT2 | Achchuthan Shanmugasundram reviewed gene: GSPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: XL INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRM7 | Achchuthan Shanmugasundram reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32286009, 28097321, 27435318; Phenotypes: GRM7-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRM6 | Achchuthan Shanmugasundram reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16249515, 15781871, 17405131; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, OMIM:257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRM1 | Achchuthan Shanmugasundram reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22901947; Phenotypes: CONGENITAL CEREBELLAR ATAXIA, OMIM:614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN2D | Achchuthan Shanmugasundram reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27616483; Phenotypes: Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN2B | Achchuthan Shanmugasundram reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24272827, 31085877, 23934111, 28377535, 23033978, 20890276, 23160955, 27605359, 23718928, 35393335, 30151416; Phenotypes: EPILEPTIC ENCEPHALOPATHY, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, OMIM:613970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN2A | Achchuthan Shanmugasundram reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 35983985, 20890276, 23933818; Phenotypes: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:245570, Autosomal recessive GRIN2A-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIN1 | Achchuthan Shanmugasundram reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27164704, 34611970, 28051072, 23934111, 26350515, 35393335; Phenotypes: GRIN1-associated Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, OMIM:617820, EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIK2 | Achchuthan Shanmugasundram reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17847003, 34375587; Phenotypes: GRIK2-related intellectual disability and hypomyelination, INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 6, OMIM:611092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRID2 | Achchuthan Shanmugasundram reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31183084, 25841024, 24078737, 23611888, 28856174; Phenotypes: GRID2-related cerebellar ataxia, biallelic, GRID2-related cerebellar ataxia, monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIA4 | Achchuthan Shanmugasundram reviewed gene: GRIA4: Rating: RED; Mode of pathogenicity: Other; Publications: 29220673; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, OMIM:617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIA3 | Achchuthan Shanmugasundram reviewed gene: GRIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17989220; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 94, OMIM:300699; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIA2 | Achchuthan Shanmugasundram reviewed gene: GRIA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GRIA2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIA1 | Achchuthan Shanmugasundram reviewed gene: GRIA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 35675825; Phenotypes: GRIA1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRHL3 | Achchuthan Shanmugasundram reviewed gene: GRHL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24360809; Phenotypes: VAN DER WOUDE SYNDROME, OMIM:119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRHL2 | Achchuthan Shanmugasundram reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, OMIM:616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GREB1L | Achchuthan Shanmugasundram reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 29261186, 32378186, 32598191, 29220675, 29100090, 31424080, 29100091; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM:617805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPX4 | Achchuthan Shanmugasundram reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24706940; Phenotypes: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, OMIM:250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPSM2 | Achchuthan Shanmugasundram reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22578326; Phenotypes: CHUDLEY-MCCULLOUGH SYNDROME, OMIM:604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPHN | Achchuthan Shanmugasundram reviewed gene: GPHN: Rating: RED; Mode of pathogenicity: ; Publications: 11095995, 22040219; Phenotypes: GPHN-related molybdenum cofactor deficiency, OMIM:615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPC6 | Achchuthan Shanmugasundram reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 19481194; Phenotypes: OMODYSPLASIA TYPE 1 (OMOD1), OMIM:258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPC4 | Achchuthan Shanmugasundram reviewed gene: GPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30982611; Phenotypes: KEIPERT SYNDROME, OMIM:301026; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPC3 | Achchuthan Shanmugasundram reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8589713, 18203194, 9950367, 17850639, 16158429, 10814714; Phenotypes: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, OMIM:312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPAA1 | Achchuthan Shanmugasundram reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100095; Phenotypes: Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia, OMIM:617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GOT2 | Achchuthan Shanmugasundram reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31422819; Phenotypes: Malate-Aspartate Shuttle-Related Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GORAB | Achchuthan Shanmugasundram reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18997784; Phenotypes: Geroderma osteodysplasticum, OMIM:231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GON4L | Achchuthan Shanmugasundram reviewed gene: GON4L: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GOLGA2 | Achchuthan Shanmugasundram reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26742501, 34424553; Phenotypes: GOLGA2-related myopathy, seizures and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNS | Achchuthan Shanmugasundram reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19650410, 12624138, 17998446, 6450420, 3100754; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3D, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNPTG | Achchuthan Shanmugasundram reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: 10712439, 20034096, 19659762, 19370764, 34341521; Phenotypes: MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C, OMIM:252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNPTAB | Achchuthan Shanmugasundram reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 19197337, 16116615, 16465621, 16200072, 16094673, 15633164, 34341521; Phenotypes: MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A, OMIM:252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNPAT | Achchuthan Shanmugasundram reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9536089, 1405476, 9843043, 21990100; Phenotypes: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2, OMIM:222765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNE | Achchuthan Shanmugasundram reviewed gene: GNE: Rating: RED; Mode of pathogenicity: Other; Publications: 11486897, 35121750, 11326336, 10356312, 29923088, 27142465, 10330343, 32053088; Phenotypes: GNE-associated congenital myopathy, GNE-associated sialuria, OMIM:269921; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB5 | Achchuthan Shanmugasundram reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523599; Phenotypes: Sinus Bradycardia and Cognitive Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB3 | Achchuthan Shanmugasundram reviewed gene: GNB3: Rating: RED; Mode of pathogenicity: ; Publications: 27063057; Phenotypes: GNB3 Autosomal-Recessive Congenital Stationary Night Blindness.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB2 | Achchuthan Shanmugasundram reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28219978, 33057194, 34183358, 31698099; Phenotypes: GNB2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB1 | Achchuthan Shanmugasundram reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30194818, 27108799; Phenotypes: Severe Neurodevelopmental Disability, Hypotonia, and Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAS | Achchuthan Shanmugasundram reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1944469, 18182455, 1505964, 11095461, 10487696, 17299070, 2122458, 15592469, 9328353, 8702665, 11029463, 11073544, 15126527, 8072545, 1594625; Phenotypes: ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580, MCCUNE-ALBRIGHT SYNDROME, OMIM:174800, PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAQ | Achchuthan Shanmugasundram reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058448; Phenotypes: Congenital Hemangioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAO1 | Achchuthan Shanmugasundram reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993195; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAI3 | Achchuthan Shanmugasundram reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11102934; Phenotypes: AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAI1 | Achchuthan Shanmugasundram reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33473207; Phenotypes: GNAI1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNA14 | Achchuthan Shanmugasundram reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476652; Phenotypes: Congenital vascular tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNA11 | Achchuthan Shanmugasundram reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058448; Phenotypes: Congenital Hemangioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GMPPB | Achchuthan Shanmugasundram reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23768512; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OMIM:615350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GMPPA | Achchuthan Shanmugasundram reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24035193, 35665995; Phenotypes: GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GMNN | Achchuthan Shanmugasundram reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637980; Phenotypes: Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GM2A | Achchuthan Shanmugasundram reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10364519, 8900233, 1915858, 8244332; Phenotypes: GM2-GANGLIOSIDOSIS TYPE AB, OMIM:272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLUL | Achchuthan Shanmugasundram reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21353613, 16267323; Phenotypes: CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY, OMIM:610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLUD1 | Achchuthan Shanmugasundram reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9571255, 11214910, 10636977; Phenotypes: HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OMIM:606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLRB | Achchuthan Shanmugasundram reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24030948, 32911248, 23182654, 23184146, 21391991, 23238346, 11929858, 33323420; Phenotypes: GLRB-related hyperexplexia, biallelic, OMIM:614619, GLRB-related hyperexplexia, monoallelic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLRA1 | Achchuthan Shanmugasundram reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24030948, 20631190, 9920650, 32319239, 30109271, 24970905, 28985719, 25036534, 32332682; Phenotypes: GLRA1-related hyperexplexia, biallelic, OMIM:149400, GLRA1-related hyperexplexia, monoallelic, OMIM:149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLMN | Achchuthan Shanmugasundram reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11845407, 11175297; Phenotypes: GLOMUVENOUS MALFORMATIONS, OMIM:138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLIS3 | Achchuthan Shanmugasundram reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12966531; Phenotypes: DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM, OMIM:610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLIS2 | Achchuthan Shanmugasundram reviewed gene: GLIS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17618285; Phenotypes: NEPHRONOPHTHISIS 7, OMIM:611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLI3 | Achchuthan Shanmugasundram reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10441570, 9054938, 10945658; Phenotypes: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, OMIM:175700, PALLISTER-HALL SYNDROME, OMIM:146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLI2 | Achchuthan Shanmugasundram reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLI2-RELATED HOLOPROSENCEPHALY, OMIM:261768; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLE1 | Achchuthan Shanmugasundram reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18204449; Phenotypes: ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, OMIM:611890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLDN | Achchuthan Shanmugasundram reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616481; Phenotypes: Lethal arthroogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLDC | Achchuthan Shanmugasundram reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10873393, 15864413, 15851735, 15824356, 1634607, 9621520, 10798358, 11592811, 15236413, 9600239, 445864, 8005589; Phenotypes: GLDC-RELATED GLYCINE ENCEPHALOPATHY, OMIM:605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLB1 | Achchuthan Shanmugasundram reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1907800, 12644936, 1606711, 10841810, 1928092, 7586649, 1909089, 8199591, 8213816, 10737981, 8198123, 11511921; Phenotypes: GM1-GANGLIOSIDOSIS TYPE 3, OMIM:230650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GK | Achchuthan Shanmugasundram reviewed gene: GK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLYCEROL KINASE DEFICIENCY, OMIM:307030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJC2 | Achchuthan Shanmugasundram reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20537300, 8733901, 18094336, 16969684, 15192806, 19056803; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804, LYMPHEDEMA, HEREDITARY, IC, OMIM:613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJB3 | Achchuthan Shanmugasundram reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200, DEAFNESS, AUTOSOMAL RECESSIVE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA8 | Achchuthan Shanmugasundram reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16604058, 18006672, 14627691, 9497259, 10480374, 11846744; Phenotypes: CATARACT-MICROCORNEA SYNDROME, OMIM:116150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA3 | Achchuthan Shanmugasundram reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15448617, 21681855, 22312188, 10746562, 22550389, 22876138, 10205266; Phenotypes: CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, OMIM:601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA1 | Achchuthan Shanmugasundram reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15108203, 2157843, 16816024, 14974090, 4209752, 2309863, 12457340, 15551259, 7815444, 21670345, 16709485, 17256797, 14981729, 11470490; Phenotypes: HALLERMANN-STREIFF SYNDROME, OMIM:234100, SYNDACTYLY TYPE 3, OMIM:186100, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200, HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GIGYF1 | Achchuthan Shanmugasundram reviewed gene: GIGYF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: GIGYF1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GHR | Achchuthan Shanmugasundram reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 11468686, 15001620, 8626815, 12679461, 15536163, 2779634, 9661642, 8488849, 2813379, 17405847, 9851797, 9360529, 9467570, 2233903; Phenotypes: PITUITARY DWARFISM II, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GFM1 | Achchuthan Shanmugasundram reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17160893; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, OMIM:609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GFER | Achchuthan Shanmugasundram reviewed gene: GFER: Rating: RED; Mode of pathogenicity: ; Publications: 19409522; Phenotypes: MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD, OMIM:613076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GFAP | Achchuthan Shanmugasundram reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11138011, 12447932, 11567214, 12975300, 14557587, 12034796; Phenotypes: ALEXANDER DISEASE, OMIM:203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GEMIN5 | Achchuthan Shanmugasundram reviewed gene: GEMIN5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33963192; Phenotypes: GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GEMIN4 | Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30237576, 35861185, 27878435, 25558065; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDI1 | Achchuthan Shanmugasundram reviewed gene: GDI1: Rating: RED; Mode of pathogenicity: ; Publications: 28863211, 22002931, 9620768, 21736009; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 41, OMIM:300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF6 | Achchuthan Shanmugasundram reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18425797, 21070663, 32737436, 25457163, 19129173; Phenotypes: GDF6 Oculo-Skeletal Syndrome, OMIM:118100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF5 | Achchuthan Shanmugasundram reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222676, 11857750, 12124730, 16532400, 11846737, 10080184, 18283415, 16127465, 2703235, 12121354, 16892395, 9288098, 12900894, 18629880; Phenotypes: ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, OMIM:200700, GDF5-related Symphalangism Spectrum Disorder, OMIM:185800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF3 | Achchuthan Shanmugasundram reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: Other; Publications: 19864492, 29260090; Phenotypes: GDF3 multiple malformations, OMIM:613702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF11 | Achchuthan Shanmugasundram reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31215115, 34113007; Phenotypes: GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF1 | Achchuthan Shanmugasundram reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144877, 17924340, 20413652, 28991257, 33131162; Phenotypes: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6, OMIM:613854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GCSH | Achchuthan Shanmugasundram reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: 36190515; Phenotypes: GLYCINE ENCEPHALOPATHY, OMIM:605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GCH1 | Achchuthan Shanmugasundram reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12552057, 9667588, 7874165, 10208576, 17111153, 9576537, 7730309, 11359069, 10732814, 11486899, 10987649; Phenotypes: GTP CYCLOHYDROLASE 1 DEFICIENCY, OMIM:233910, DYSTONIA TYPE 5, OMIM:128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GCDH | Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11174631, 8900228, 10699052, 7795610, 8900227; Phenotypes: GLUTARICACIDEMIA TYPE 1, OMIM:231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GBE1 | Achchuthan Shanmugasundram reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33897756, 32455116, 27546458, 30345254, 31747834, 32374048, 33782433, 30228975, 30311141, 30303820; Phenotypes: GBE1-associated Glycogen storage disease IV, OMIM:232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GBA2 | Achchuthan Shanmugasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23332917; Phenotypes: AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GBA | Achchuthan Shanmugasundram reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATM | Achchuthan Shanmugasundram reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 10762163; Phenotypes: ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY, OMIM:612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATAD2B | Achchuthan Shanmugasundram reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23644463, 31949314; Phenotypes: NONSPECIFIC SEVERE ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA6 | Achchuthan Shanmugasundram reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631719, 20581743, 8071961, 22158542; Phenotypes: PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS, OMIM:600001, ATRIOVENTRICULAR SEPTAL DEFECT 5, OMIM:614474, ATRIAL SEPTAL DEFECT 9, OMIM:614475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA4 | Achchuthan Shanmugasundram reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17643447, 18055909, 20659440, 12845333, 15810002, 20347099; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 2, OMIM:607941; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA3 | Achchuthan Shanmugasundram reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25510779, 15830275, 30396722, 29026277, 26268891, 23291697, 26316437, 21834031, 27387476, 19723756, 23203342, 29593425, 29073906, 29025137, 25771973, 21242646, 21157112, 21120445, 11389161, 23186964, 23052618, 16509533, 25124981, 31885872, 19952462, 26777049, 19248180, 24434941, 15705923, 26514990, 26800885, 28566604, 19253381, 30534854, 10935639, 21399899, 28303854, 17309062; Phenotypes: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA2 | Achchuthan Shanmugasundram reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21670465, 2543925, 21892158, 24227816, 22996659, 20803646, 21242295; Phenotypes: EMBERGER SYNDROME, OMIM:614038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAS8 | Achchuthan Shanmugasundram reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387594; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAS2L2 | Achchuthan Shanmugasundram reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30665704; Phenotypes: Impaired Cilia Orientation and Mucociliary Clearance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAN | Achchuthan Shanmugasundram reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062483, 29876741, 20949505, 30246730, 19231187, 30532362; Phenotypes: Giant axonal neuropathy 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAMT | Achchuthan Shanmugasundram reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 8651275, 15651030, 17101918; Phenotypes: GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY, OMIM:612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALT | Achchuthan Shanmugasundram reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012409, 1610789, 2233247, 1897530, 10439960, 2011574, 8869397, 9222760; Phenotypes: GALACTOSEMIA, OMIM:230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALNS | Achchuthan Shanmugasundram reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 4A, OMIM:253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALK1 | Achchuthan Shanmugasundram reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521295, 10790206, 7670469, 11231902; Phenotypes: GALACTOSEMIA II, OMIM:230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALE | Achchuthan Shanmugasundram reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326324, 9538513, 9973283; Phenotypes: EPIMERASE-DEFICIENCY GALACTOSEMIA, OMIM:230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALC | Achchuthan Shanmugasundram reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: 8297359, 20886637, 8786069, 21070211; Phenotypes: KRABBE DISEASE, OMIM:245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAD1 | Achchuthan Shanmugasundram reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: Other; Publications: 15571623; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1, OMIM:603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRG2 | Achchuthan Shanmugasundram reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11326274; Phenotypes: EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, OMIM:611277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRG1 | Achchuthan Shanmugasundram reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: Other; Publications: 36121006; Phenotypes: GABRG1-associated epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRB3 | Achchuthan Shanmugasundram reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18514161, 27476654, 23934111; Phenotypes: CHILDHOOD ABSENCE EPILEPSY TYPE 5, OMIM:612269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRB2 | Achchuthan Shanmugasundram reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABRA1 | Achchuthan Shanmugasundram reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992121, 23934111; Phenotypes: EPILEPTIC ENCEPHALOPATHY, JUVENILE MYOCLONIC EPILEPSY, OMIM:611136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABBR2 | Achchuthan Shanmugasundram reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083, 29369404, 26740508, 25262651, 28856709; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GABBR1 | Achchuthan Shanmugasundram reviewed gene: GABBR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36103875; Phenotypes: GABBR1-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAA | Achchuthan Shanmugasundram reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 9529346, 7881425, 15668445, 7945303, 7881422, 3865697, 1652892, 17616415, 1898413, 8834250; Phenotypes: GLYCOGEN STORAGE DISEASE TYPE II, OMIM:232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FZR1 | Achchuthan Shanmugasundram reviewed gene: FZR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31318984, 34788397; Phenotypes: FZR1-related intellectual disability and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FZD6 | Achchuthan Shanmugasundram reviewed gene: FZD6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21665003; Phenotypes: NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10, OMIM:614157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FZD5 | Achchuthan Shanmugasundram reviewed gene: FZD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26908622; Phenotypes: Autosomal Dominant Coloboma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FYCO1 | Achchuthan Shanmugasundram reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21636066, 11519376; Phenotypes: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2, OMIM:610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FXR1 | Achchuthan Shanmugasundram reviewed gene: FXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35393337, 30770808; Phenotypes: FXR1-related congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FUT8 | Achchuthan Shanmugasundram reviewed gene: FUT8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29304374; Phenotypes: Congenital Disorder of Glycosylation with Defective Fucosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FUK | Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30503518; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FUCA1 | Achchuthan Shanmugasundram reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9762612, 2642067, 8401503, 2012122, 8097260, 1281988; Phenotypes: FUCOSIDOSIS, OMIM:230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTSJ1 | Achchuthan Shanmugasundram reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10398246, 15162322, 8288232; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 44, OMIM:309549; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTO | Achchuthan Shanmugasundram reviewed gene: FTO: Rating: RED; Mode of pathogenicity: Other; Publications: 19559399; Phenotypes: GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH, OMIM:612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTL | Achchuthan Shanmugasundram reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11849230, 9414313, 9414300, 19176363, 7493028, 9226182, 7669675, 12200611, 9292547, 10759702; Phenotypes: HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME, OMIM:600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTCD | Achchuthan Shanmugasundram reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 12815595; Phenotypes: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, OMIM:229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRY | Achchuthan Shanmugasundram reviewed gene: FRY: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRRS1L | Achchuthan Shanmugasundram reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 27236917, 27239025; Phenotypes: Epileptic encephalopathy with continuous spike-and-wave during sleep; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRMPD4 | Achchuthan Shanmugasundram reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381; Phenotypes: Intellectual Disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRMD7 | Achchuthan Shanmugasundram reviewed gene: FRMD7: Rating: RED; Mode of pathogenicity: ; Publications: 17397053, 16240070, 17962394, 18087240, 19072571, 21746984, 17013395, 25678693; Phenotypes: NYSTAGMUS 1, CONGENITAL, X-LINKED, OMIM:310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRMD5 | Achchuthan Shanmugasundram reviewed gene: FRMD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36206744; Phenotypes: FRMD5-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FREM2 | Achchuthan Shanmugasundram reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRASER SYNDROME, OMIM:219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FREM1 | Achchuthan Shanmugasundram reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11332973, 17352387; Phenotypes: MANITOBA OCULOTRICHOANAL SYNDROME, OMIM:248450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRAS1 | Achchuthan Shanmugasundram reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15838507, 12766769, 18671281, 17163535, 18203166, 16894541; Phenotypes: FRASER SYNDROME, OMIM:219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRA10AC1 | Achchuthan Shanmugasundram reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35871492, 35821753, 34694367; Phenotypes: FRA10AC1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXRED1 | Achchuthan Shanmugasundram reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20818383, 11181577, 17262856, 15824269, 9463323, 19185523, 11349233, 10944442, 12616398, 20858599, 20382551, 15159508, 21203893, 10080174, 16200211, 22499348, 10330338, 9837812, 23553477; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXP4 | Achchuthan Shanmugasundram reviewed gene: FOXP4: Rating: RED; Mode of pathogenicity: ; Publications: 33110267; Phenotypes: FOXP4-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXP3 | Achchuthan Shanmugasundram reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 14671208, 11120765, 17635943, 11137993, 11137992; Phenotypes: IPEX SYNDROME, OMIM:304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXP2 | Achchuthan Shanmugasundram reviewed gene: FOXP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 2332125, 15877281; Phenotypes: SPEECH-LANGUAGE DISORDER 1, OMIM:602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXP1 | Achchuthan Shanmugasundram reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24214399, 28884888, 30092897, 20950788, 28735298, 25853299, 29090079, 29330474; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES, OMIM:613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXN1 | Achchuthan Shanmugasundram reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8911612; Phenotypes: ALOPECIA AND T-CELL IMMUNODEFICIENCY, OMIM:601705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXL2 | Achchuthan Shanmugasundram reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12400065, 12938087, 11175783, 17089161, 12630957, 11468277, 11776388, 12567411, 12529855, 21325395; Phenotypes: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME, OMIM:110100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXJ1 | Achchuthan Shanmugasundram reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630787; Phenotypes: Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXI3 | Achchuthan Shanmugasundram reviewed gene: FOXI3: Rating: RED; Mode of pathogenicity: Other; Publications: 36260083; Phenotypes: FOXI3-related microtia and craniofacial microsomia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXG1 | Achchuthan Shanmugasundram reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18571142, 21441262, 19564653, 19578037; Phenotypes: CONGENITAL VARIANT OF RETT SYNDROME, OMIM:613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXF1 | Achchuthan Shanmugasundram reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXE3 | Achchuthan Shanmugasundram reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29136273, 20361012, 20140963, 6801987, 22204637, 3550563, 11159941, 16826526; Phenotypes: CONGENITAL PRIMARY APHAKIA, OMIM:610256, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, OMIM:107250; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXE1 | Achchuthan Shanmugasundram reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: BAMFORTH-LAZARUS SYNDROME, OMIM:241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXC2 | Achchuthan Shanmugasundram reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11078474, 18197197, 15523639, 14269895, 11499682, 10417285, 12114478, 12485195, 11371511; Phenotypes: LYMPHEDEMA-DISTICHIASIS SYNDROME, OMIM:153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXC1 | Achchuthan Shanmugasundram reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792859, 18498376, 9326342, 11170889, 9620769, 17210863, 10713890, 19793056, 11007653; Phenotypes: AXENFELD-RIEGER SYNDROME TYPE 3, OMIM:602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOLR1 | Achchuthan Shanmugasundram reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19732866; Phenotypes: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, OMIM:613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FN1 | Achchuthan Shanmugasundram reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100092; Phenotypes: Spondylometaphyseal Dysplasia with Corner Fractures, OMIM:184255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FMR1 | Achchuthan Shanmugasundram reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623, PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360, FRAGILE X SYNDROME, OMIM:300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FMN2 | Achchuthan Shanmugasundram reviewed gene: FMN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25480035; Phenotypes: NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLVCR2 | Achchuthan Shanmugasundram reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19635601, 20518025, 25677735, 20206334; Phenotypes: PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, OMIM:225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLVCR1 | Achchuthan Shanmugasundram reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21070897, 21267618, 9409377, 30656474; Phenotypes: ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, OMIM:609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLT4 | Achchuthan Shanmugasundram reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33067626, 10835628, 12960217, 16924388, 19289394, 16965327, 10856194; Phenotypes: CONGENITAL HEART DISEASE, MILROY DISEASE, OMIM:153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLNB | Achchuthan Shanmugasundram reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18257094, 16801345, 14991055, 18386804; Phenotypes: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, OMIM:272460, ATELOSTEOGENESIS TYPE 1, OMIM:108720, AUTOSOMAL DOMINANT LARSEN SYNDROME, OMIM:150250, ATELOSTEOGENESIS TYPE 3, OMIM:108721; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLNA | Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23934111, 16596676, 8644737, 20301567, 11914408, 16299064, 11532987, 8290091, 9883725, 28498505, 10982965, 23032111, 17632775, 17431908, 23037936, 18854860, 15654694, 14988809, 15940695, 12612583, 20014127; Phenotypes: X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, OMIM:300048, MELNICK-NEEDLES SYNDROME, OMIM:309350, Otopalatodigital Syndrome, PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1, OMIM:300049, TERMINAL OSSEOUS DYSPLASIA, OMIM:300244, FRONTOMETAPHYSEAL DYSPLASIA, OMIM:305620, EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLG | Achchuthan Shanmugasundram reviewed gene: FLG: Rating: RED; Mode of pathogenicity: ; Publications: 17291859, 16444271; Phenotypes: ICHTHYOSIS VULGARIS, OMIM:146700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLAD1 | Achchuthan Shanmugasundram reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27259049; Phenotypes: Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKTN | Achchuthan Shanmugasundram reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21228398, 17044012, 17878207, 19179078, 12601708, 9690476, 17036286, 10545611, 19342235, 14627679; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4, OMIM:611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKRP | Achchuthan Shanmugasundram reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053680, 12654965, 15121789, 11592034, 14523375, 17336067, 11741828, 14647208, 14652796, 11071142, 12707439; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5, OMIM:613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKBP14 | Achchuthan Shanmugasundram reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OMIM:614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKBP10 | Achchuthan Shanmugasundram reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20362275, 21567934, 35278031, 20839288; Phenotypes: BRUCK SYNDROME TYPE 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FIG4 | Achchuthan Shanmugasundram reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17572665, 23623387, 7496176, 34899148, 30740813, 2319578; Phenotypes: CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME, OMIM:216340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FHL1 | Achchuthan Shanmugasundram reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607917, 19716112, 19687455, 18179888; Phenotypes: EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, OMIM:300696; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FH | Achchuthan Shanmugasundram reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: 8200987, 22069215; Phenotypes: FUMARASE DEFICIENCY, OMIM:606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGFR3 | Achchuthan Shanmugasundram reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28483234, 8845844, 7493034, 7913883, 17033969, 16912704, 16501574, 7758520, 11055896, 19449430, 9452043, 7670477, 7773297, 10215410, 7647778, 16411219, 8078586, 8589686, 27139183; Phenotypes: THANATOPHORIC DYSPLASIA TYPE 2, OMIM:187601, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, OMIM:610474, MUENKE SYNDROME, OMIM:602849, HYPOCHONDROPLASIA, OMIM:146000, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OMIM:612247, THANATOPHORIC DYSPLASIA TYPE 1, OMIM:187600, ACHONDROPLASIA, OMIM:100800, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGFR2 | Achchuthan Shanmugasundram reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7719344, 9677057, 7987400, 7874170, 9973282, 8696350, 19610084, 15523492, 22038757, 7607643, 8528214, 7581378, 7655462, 17621648, 9002682, 9152842; Phenotypes: APERT SYNDROME, OMIM:101200, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, JACKSON-WEISS SYNDROME, OMIM:123150, ANTLEY-BIXLER SYNDROME, OMIM:207410, CROUZON SYNDROME, OMIM:123500, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGFR1 | Achchuthan Shanmugasundram reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11807866, 15523615, 10394936, 7874169, 15625620, 26942290, 10690855, 7719345, 17235395, 8434615, 7422392, 16606836, 8841188, 23643382, 16882753, 17360555, 18596921, 23812909, 9150725, 16418210, 9002682, 12627230, 10945669, 9586546; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Encephalocraniocutaneous lipomatosis, OMIM:613001, PFEIFFER SYNDROME, OMIM:101600, OSTEOGLOPHONIC DYSPLASIA, OMIM:166250, Hartsfield syndrome, OMIM:615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF9 | Achchuthan Shanmugasundram reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: ; Publications: 19589401; Phenotypes: MULTIPLE SYNOSTOSES SYNDROME TYPE 3, OMIM:612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF3 | Achchuthan Shanmugasundram reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18435799, 21480479, 17236138, 18701883; Phenotypes: DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA, OMIM:610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF14 | Achchuthan Shanmugasundram reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: ; Publications: 30607796, 25566820, 21600715; Phenotypes: FGF14-related episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF13 | Achchuthan Shanmugasundram reviewed gene: FGF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33245860; Phenotypes: FGF13-related neurodevelopmental disorder (X-linked dominant), FGF13-related neurodevelopmental disorder (hemizygous); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF12 | Achchuthan Shanmugasundram reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27164707, 27872899, 27830185; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF10 | Achchuthan Shanmugasundram reviewed gene: FGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 16501574, 16630169; Phenotypes: LADD SYNDROME, OMIM:149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGD1 | Achchuthan Shanmugasundram reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11093277, 14560308, 16688726, 20082460, 16353258, 7954831, 17152066, 17847065, 10930571, 15809997, 11940089; Phenotypes: AARSKOG-SCOTT SYNDROME, OMIM:305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FEZF1 | Achchuthan Shanmugasundram reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25192046; Phenotypes: HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA, OMIM:616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FEM1C | Achchuthan Shanmugasundram reviewed gene: FEM1C: Rating: RED; Mode of pathogenicity: Other; Publications: 36336956; Phenotypes: FEM1C-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FDFT1 | Achchuthan Shanmugasundram reviewed gene: FDFT1: Rating: RED; Mode of pathogenicity: ; Publications: 29909962; Phenotypes: Defect in Cholesterol Biosynthesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXW7 | Achchuthan Shanmugasundram reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: FBXW7-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXW4 | Achchuthan Shanmugasundram reviewed gene: FBXW4: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPLIT-HAND/FOOT MALFORMATION TYPE 3, OMIM:246560; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXW11 | Achchuthan Shanmugasundram reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31402090; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXO28 | Achchuthan Shanmugasundram reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30160831, 33280099; Phenotypes: FBX028-related developmental and epileptic encephalopathy with profound intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXO11 | Achchuthan Shanmugasundram reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: ; Publications: 27620904, 30057029, 30679813; Phenotypes: Variable Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXL4 | Achchuthan Shanmugasundram reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993194; Phenotypes: FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBP1 | Achchuthan Shanmugasundram reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7763253, 12126934; Phenotypes: FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY, OMIM:229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBN2 | Achchuthan Shanmugasundram reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9737771, 11281275, 20799338, 9106527, 9199560, 8900230, 10797416; Phenotypes: CONGENITAL CONTRACTURAL ARACHNODACTYLY, OMIM:121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBN1 | Achchuthan Shanmugasundram reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1852208, 1631074, 31950671, 17366579, 9241263, 7611299, 1569206, 1301946, 9101298, 11175294, 9837823, 15032979, 17492313, 7762551, 23103230, 23897642, 21594992, 8136837, 7633409, 15287423, 12525539, 8504310, 20979188, 10766875, 16333834, 8281141, 23023332, 11702223, 17568394, 20082464, 27582083, 8101042, 8071963, 7911051, 8040326, 21594993, 10441597, 18412115, 8428751, 8406497, 8430317; Phenotypes: WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, MARFAN SYNDROME, OMIM:154700, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212, Marfan Syndrome, biallelic, OMIM:154700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBLN1 | Achchuthan Shanmugasundram reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, OMIM:608180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAT4 | Achchuthan Shanmugasundram reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24056717; Phenotypes: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, OMIM:616006, VAN MALDERGEM SYNDROME, OMIM:615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FASN | Achchuthan Shanmugasundram reviewed gene: FASN: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FARS2 | Achchuthan Shanmugasundram reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29326872, 27549011, 29126765, 28043061, 27095821; Phenotypes: Neurometabolic disorder due to FARS2 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAR1 | Achchuthan Shanmugasundram reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25439727; Phenotypes: SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCM | Achchuthan Shanmugasundram reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FANCM-RELATED FANCONI ANEMIA, OMIM:287713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCL | Achchuthan Shanmugasundram reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FANCONI ANEMIA, OMIM:229154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCI | Achchuthan Shanmugasundram reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FANCONI ANEMIA, OMIM:229154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCG | Achchuthan Shanmugasundram reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: 15657175, 10807541, 9806548, 12552564; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP G, OMIM:614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCF | Achchuthan Shanmugasundram reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: 26033879, 10615118, 9382107; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP F, OMIM:603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCE | Achchuthan Shanmugasundram reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 10205272, 9382107, 11001585; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP E, OMIM:600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCD2 | Achchuthan Shanmugasundram reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11239453; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP D2, OMIM:227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCC | Achchuthan Shanmugasundram reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20869034, 8348157, 10431244; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP C, OMIM:227645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCB | Achchuthan Shanmugasundram reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 16679491; Phenotypes: FANCB-RELATED FANCONI ANEMIA, OMIM:229139; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FANCA | Achchuthan Shanmugasundram reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12447395, 11344308, 12827451, 10431244, 8896564, 15523645; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP A, OMIM:227650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM58A | Achchuthan Shanmugasundram reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18297069, 28322501, 8818947; Phenotypes: STAR SYNDROME, OMIM:300707; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM20C | Achchuthan Shanmugasundram reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: ; Publications: 20825432, 17924334, 19250384; Phenotypes: RAINE SYNDROME, OMIM:259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM20A | Achchuthan Shanmugasundram reviewed gene: FAM20A: Rating: GREEN; Mode of pathogenicity: ; Publications: 21549343; Phenotypes: AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME, OMIM:204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM161A | Achchuthan Shanmugasundram reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10507729, 26574802, 20705279, 20705278; Phenotypes: RETINITIS PIGMENTOSA 28, OMIM:606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM149B1 | Achchuthan Shanmugasundram reviewed gene: FAM149B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30905400; Phenotypes: Ciliopathy-related syndromic intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM126A | Achchuthan Shanmugasundram reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: 17928815, 16951682; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 5, OMIM:610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM111A | Achchuthan Shanmugasundram reviewed gene: FAM111A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23684011; Phenotypes: KENNY-CAFFEY SYNDROME, OMIM:127000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAH | Achchuthan Shanmugasundram reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 7977370, 8829657, 7757089, 1401056, 8364576, 8162054, 11196105, 8318997; Phenotypes: TYROSINEMIA TYPE 1, OMIM:276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EZH2 | Achchuthan Shanmugasundram reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: WEAVER SYNDROME 2, OMIM:614421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EYA1 | Achchuthan Shanmugasundram reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9361030, 5365063, 16441263, 9020840, 10655545, 19206155; Phenotypes: BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXTL3 | Achchuthan Shanmugasundram reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28132690; Phenotypes: Neuro immuno skeletal Dysplasia Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXT2 | Achchuthan Shanmugasundram reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326317; Phenotypes: EXOSTOSES, MULTIPLE, TYPE 2, OMIM:133701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXT1 | Achchuthan Shanmugasundram reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326317, 7550340, 8981950, 15253765; Phenotypes: HEREDITARY MULTIPLE EXOSTOSES TYPE 1, OMIM:133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXPH5 | Achchuthan Shanmugasundram reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176819; Phenotypes: INHERITED SKIN FRAGILITY, OMIM:615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXOSC9 | Achchuthan Shanmugasundram reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727687; Phenotypes: Cerebellar Atrophy with Spinal Motor Neuronopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXOSC3 | Achchuthan Shanmugasundram reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXOSC2 | Achchuthan Shanmugasundram reviewed gene: EXOSC2: Rating: RED; Mode of pathogenicity: ; Publications: 36069504, 26843489; Phenotypes: EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EVC2 | Achchuthan Shanmugasundram reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16404586; Phenotypes: ACROFACIAL DYSOSTOSIS WEYERS TYPE, OMIM:193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EVC | Achchuthan Shanmugasundram reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: ; Publications: 7628126, 21815252, 10700184, 14217223, 12468274, 7218275, 12571802; Phenotypes: ACROFACIAL DYSOSTOSIS WEYERS TYPE, OMIM:193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETHE1 | Achchuthan Shanmugasundram reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18593870, 14732903, 20528888; Phenotypes: ETHYLMALONIC ENCEPHALOPATHY, OMIM:602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETFDH | Achchuthan Shanmugasundram reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUTARIC ACIDURIA TYPE 2C, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETFB | Achchuthan Shanmugasundram reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUTARIC ACIDURIA TYPE 2B, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETFA | Achchuthan Shanmugasundram reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17412732, 7912128, 12815589, 1882842, 1430199, 19249206; Phenotypes: GLUTARIC ACIDURIA TYPE 2A, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ESCO2 | Achchuthan Shanmugasundram reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 3740099, 15821733, 495649; Phenotypes: ROBERTS SYNDROME, OMIM:268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERMARD | Achchuthan Shanmugasundram reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: ; Publications: 24056535; Phenotypes: PERIVENTRICULAR HETEROTOPIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERLIN2 | Achchuthan Shanmugasundram reviewed gene: ERLIN2: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERF | Achchuthan Shanmugasundram reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354439, 35852485, 27738187; Phenotypes: COMPLEX CRANIOSYNOSTOSIS, Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC8 | Achchuthan Shanmugasundram reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 14661080, 15744458, 7664335; Phenotypes: COCKAYNE SYNDROME TYPE A, OMIM:216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC6L2 | Achchuthan Shanmugasundram reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24507776; Phenotypes: BONE MARROW FAILURE SYNDROME 2, OMIM:615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC6 | Achchuthan Shanmugasundram reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20456449, 9443879, 7264357, 10739753, 18628313, 18446857, 10196384; Phenotypes: UV-SENSITIVE SYNDROME, OMIM:609413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC5 | Achchuthan Shanmugasundram reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11228268, 12060391, 7951246, 9096355, 23255472, 11841555, 11219864, 8818951; Phenotypes: XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G, OMIM:278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC4 | Achchuthan Shanmugasundram reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 3372781, 23623389, 17183314, 23623386, 8797827; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP Q, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC3 | Achchuthan Shanmugasundram reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 4811796, 8408834; Phenotypes: XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B, OMIM:610651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC2 | Achchuthan Shanmugasundram reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012405, 11709541, 15220921, 9101292, 7849702, 7920640, 9195225, 8571952, 11443545, 7585650, 9758621; Phenotypes: CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2, OMIM:610756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC1 | Achchuthan Shanmugasundram reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23623389, 17273966; Phenotypes: CEREBROOCULOFACIOSKELETAL SYNDROME 4, OMIM:610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERBB3 | Achchuthan Shanmugasundram reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17701904; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2, OMIM:607598, Hirschprung disease with intestinal pseudo-obstruction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPRS | Achchuthan Shanmugasundram reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576217; Phenotypes: Hypomyelinating Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPHB4 | Achchuthan Shanmugasundram reviewed gene: EPHB4: Rating: RED; Mode of pathogenicity: ; Publications: 28687708, 29444212; Phenotypes: Capillary malformation-arteriovenous malformation 2, OMIM:618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPG5 | Achchuthan Shanmugasundram reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222957, 3344762; Phenotypes: IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM, OMIM:242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPCAM | Achchuthan Shanmugasundram reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 21315192, 24048167, 24142340, 18572020, 20034091, 26684320, 27875355, 19820410; Phenotypes: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPB41L1 | Achchuthan Shanmugasundram reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: Other; Publications: 21376300; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EP300 | Achchuthan Shanmugasundram reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: ; Publications: 19353645, 17299436, 20014264, 15706485; Phenotypes: RUBINSTEIN-TAYBI SYNDROME TYPE 2, OMIM:613684; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EOMES | Achchuthan Shanmugasundram reviewed gene: EOMES: Rating: RED; Mode of pathogenicity: ; Publications: 17353897; Phenotypes: POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EOGT | Achchuthan Shanmugasundram reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 23522784; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ENTPD1 | Achchuthan Shanmugasundram reviewed gene: ENTPD1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ENPP1 | Achchuthan Shanmugasundram reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137773, 12881724, 15940697, 20137772, 11159191, 19206175, 22209248, 15605415; Phenotypes: Generalized Arterial Calcification of Infancy and Hypophosphataemic Rickets, OMIM:208000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EMX2 | Achchuthan Shanmugasundram reviewed gene: EMX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: FAMILIAL SCHIZENCEPHALY, EMX2-RELATED, OMIM:269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EMG1 | Achchuthan Shanmugasundram reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26676230, 27798105, 19463982, 25708872; Phenotypes: Bowen-Conradi syndrome, OMIM:211180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EMC10 | Achchuthan Shanmugasundram reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: ; Publications: 33531666; Phenotypes: EMC10-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EMC1 | Achchuthan Shanmugasundram reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29271071, 26942288; Phenotypes: Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic, Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELP2 | Achchuthan Shanmugasundram reviewed gene: ELP2: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELOVL4 | Achchuthan Shanmugasundram reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22100072; Phenotypes: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELN | Achchuthan Shanmugasundram reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: 8132745, 9215671, 8541862, 9215670, 21309044, 11735026, 10190324, 19844261, 11175284, 23442826, 10190538; Phenotypes: ELN-RELATED CUTIS LAXA, OMIM:314088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELMO2 | Achchuthan Shanmugasundram reviewed gene: ELMO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476657; Phenotypes: Intraosseous Vascular Malformation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELFN1 | Achchuthan Shanmugasundram reviewed gene: ELFN1: Rating: RED; Mode of pathogenicity: ; Publications: 34509675; Phenotypes: ELFN1-related intellectual disability and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELAC2 | Achchuthan Shanmugasundram reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849775, 27769300; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF5A | Achchuthan Shanmugasundram reviewed gene: EIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33547280; Phenotypes: EIF5A-related craniofacial-neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF4A3 | Achchuthan Shanmugasundram reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24360810; Phenotypes: RICHIERI-COSTA-PEREIRA SYNDROME, OMIM:268305; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF3F | Achchuthan Shanmugasundram reviewed gene: EIF3F: Rating: GREEN; Mode of pathogenicity: ; Publications: 30409806; Phenotypes: EIF3F related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2S3 | Achchuthan Shanmugasundram reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23063529, 27333055; Phenotypes: Syndromic ID with severe microcephaly; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2B5 | Achchuthan Shanmugasundram reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: 28939701, 25457085, 25230711, 25089094, 25758335, 14572143, 15776425; Phenotypes: EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2B4 | Achchuthan Shanmugasundram reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30073106, 26043506, 25089094, 31385086, 18539998, 14572143; Phenotypes: EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2AK3 | Achchuthan Shanmugasundram reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7551159, 12960215, 16813601, 10932183; Phenotypes: WOLCOTT-RALLISON SYNDROME, OMIM:226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2AK2 | Achchuthan Shanmugasundram reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32197074; Phenotypes: EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EIF2AK1 | Achchuthan Shanmugasundram reviewed gene: EIF2AK1: Rating: RED; Mode of pathogenicity: Other; Publications: 32197074; Phenotypes: EIF2AK1-associated Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EHMT1 | Achchuthan Shanmugasundram reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27123477, 23232695, 16826528, 28361100, 19264732, 28498556; Phenotypes: Kleefstra syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EGR2 | Achchuthan Shanmugasundram reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, OMIM:605253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EFTUD2 | Achchuthan Shanmugasundram reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27670155, 23879989, 28643921, 23188108, 25387991, 25735261, 31413053, 30343593, 22305528, 23239648, 26507355, 24470203; Phenotypes: MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY, OMIM:610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EFNB1 | Achchuthan Shanmugasundram reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15124102, 15166289, 16685650; Phenotypes: CRANIOFRONTONASAL SYNDROME, OMIM:304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EFEMP2 | Achchuthan Shanmugasundram reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29362193, 17937443, 30140196, 19664000, 28673110, 16685658, 22440127, 24276535, 23212998; Phenotypes: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EEF2 | Achchuthan Shanmugasundram reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EEF2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EEF1B2 | Achchuthan Shanmugasundram reviewed gene: EEF1B2: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EEF1A2 | Achchuthan Shanmugasundram reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32196822, 23647072; Phenotypes: INFANTILE EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EED | Achchuthan Shanmugasundram reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27868325, 27193220, 25787343, 28475857; Phenotypes: Weaver-like overgrowth syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDNRB | Achchuthan Shanmugasundram reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7778600; Phenotypes: ABCD SYNDROME, OMIM:600501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDNRA | Achchuthan Shanmugasundram reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25772936; Phenotypes: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, OMIM:616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDN1 | Achchuthan Shanmugasundram reviewed gene: EDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268655; Phenotypes: QUESTION MARK EARS, ISOLATED, OMIM:612798, AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDEM3 | Achchuthan Shanmugasundram reviewed gene: EDEM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34143952; Phenotypes: EDEM3-related congenital disorder of glycosylation, OMIM:619493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDAR | Achchuthan Shanmugasundram reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 10431241, 16435307, 20979233; Phenotypes: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDA | Achchuthan Shanmugasundram reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: ; Publications: 9683615, 17066260, 16583127, 19921643, 12949972, 17256800, 19264582, 8696334, 18657636, 9507389, 9856856; Phenotypes: TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1, OMIM:313500, ECTODERMAL DYSPLASIA TYPE 1, OMIM:305100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ECM1 | Achchuthan Shanmugasundram reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25529926, 25465029, 28434238; Phenotypes: LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ECHS1 | Achchuthan Shanmugasundram reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25125611, 29575569, 26000322, 35856138, 25393721; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ECEL1 | Achchuthan Shanmugasundram reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261301; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 5D, OMIM:615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EBP | Achchuthan Shanmugasundram reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10942423, 10391218, 11038443, 10391219, 12503101; Phenotypes: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED, OMIM:302960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EBF3 | Achchuthan Shanmugasundram reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017372, 28017370, 28017373; Phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYRK1A | Achchuthan Shanmugasundram reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25641759, 28053047, 21294719, 31263215, 25707398, 25920557, 25944381, 23160955, 31803247, 26922654, 29034068, 23099646; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 7, OMIM:614104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYNC2LI1 | Achchuthan Shanmugasundram reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26077881, 33030252, 26130459, 28857138; Phenotypes: DYNC2LI1-related short-rib polydactyly, OMIM:617088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYNC2H1 | Achchuthan Shanmugasundram reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19442771, 19361615; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYNC1I2 | Achchuthan Shanmugasundram reviewed gene: DYNC1I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079899; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES, OMIM:618492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYNC1H1 | Achchuthan Shanmugasundram reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28193117, 27066557, 28554554, 27331017, 30122514, 22459677, 25609763, 25484024, 29306600, 24307404, 22368300; Phenotypes: SEVERE ID WITH NEURONAL MIGRATION DISORDER, OMIM:600112, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD, OMIM:158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYM | Achchuthan Shanmugasundram reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: ; Publications: 16097008, 19005420, 12554689, 12491225; Phenotypes: DYGGVE-MELCHIOR-CLAUSEN SYNDROME/SMITH-MCCORT DYSPLASIA, OMIM:223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DVL3 | Achchuthan Shanmugasundram reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26924530; Phenotypes: AUTOSOMAL-DOMINANT ROBINOW SYNDROME, OMIM:616331; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DVL1 | Achchuthan Shanmugasundram reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25817016; Phenotypes: AUTOSOMAL-DOMINANT ROBINOW SYNDROME, OMIM:616331; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSTYK | Achchuthan Shanmugasundram reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: 23862974, 28157540; Phenotypes: Autosomal Recessive Complicated Spastic Paraparesis SPG23, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, OMIM:610805; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSPP | Achchuthan Shanmugasundram reviewed gene: DSPP: Rating: GREEN; Mode of pathogenicity: ; Publications: 18456718, 11175779, 11175790, 14758537; Phenotypes: DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1, OMIM:605594, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, OMIM:125490; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSP | Achchuthan Shanmugasundram reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: DSP-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSG1 | Achchuthan Shanmugasundram reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23974871; Phenotypes: SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, OMIM:615508; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSE | Achchuthan Shanmugasundram reviewed gene: DSE: Rating: RED; Mode of pathogenicity: Other; Publications: 23704329; Phenotypes: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OMIM:615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DRC1 | Achchuthan Shanmugasundram reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354437; Phenotypes: PRIMARY CILARY DYSKINESIA, OMIM:244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPYSL5 | Achchuthan Shanmugasundram reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33894126; Phenotypes: DPYSL5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPM3 | Achchuthan Shanmugasundram reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19576565, 35932216; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O, OMIM:612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPM1 | Achchuthan Shanmugasundram reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10642597, 10642602; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPH5 | Achchuthan Shanmugasundram reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35482014; Phenotypes: DPH5-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPF2 | Achchuthan Shanmugasundram reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29429572, 35607970; Phenotypes: Coffin Siris like disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPAGT1 | Achchuthan Shanmugasundram reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22742743; Phenotypes: DPAGT1-CDG, OMIM:300129, MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2, OMIM:614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOLK | Achchuthan Shanmugasundram reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22242004, 17273964; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOHH | Achchuthan Shanmugasundram reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: DOHH-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOCK8 | Achchuthan Shanmugasundram reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: 19776401; Phenotypes: HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE, OMIM:243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOCK7 | Achchuthan Shanmugasundram reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24814191; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, OMIM:615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOCK6 | Achchuthan Shanmugasundram reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820096; Phenotypes: ADAMS-OLIVER SYNDROME 2, OMIM:614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNMT3B | Achchuthan Shanmugasundram reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 12239717, 10555141, 10647011; Phenotypes: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, OMIM:242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNMT3A | Achchuthan Shanmugasundram reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24614070, 29900417, 28475857; Phenotypes: Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), Microcephalic primordial dwarfism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNM1L | Achchuthan Shanmugasundram reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26604000, 26992161, 30850373, 27328748, 30939602, 29877124, 31475481, 30801875, 31587467; Phenotypes: DNM1L-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNM1 | Achchuthan Shanmugasundram reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36413998, 34172529, 25262651; Phenotypes: DNM1-associated microcephaly, developmental and epileptic encephalopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAJC12 | Achchuthan Shanmugasundram reviewed gene: DNAJC12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28132689; Phenotypes: Hyperphenylalaninemia, Dystonia, and Intellectual Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAJB4 | Achchuthan Shanmugasundram reviewed gene: DNAJB4: Rating: RED; Mode of pathogenicity: ; Publications: 36264506; Phenotypes: DNAJB4-related myopathy with early respiratory failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAJB13 | Achchuthan Shanmugasundram reviewed gene: DNAJB13: Rating: RED; Mode of pathogenicity: ; Publications: 27486783; Phenotypes: Primary Ciliary Dyskinesia and Male Infertility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAH9 | Achchuthan Shanmugasundram reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: ; Publications: 30471718, 30471717; Phenotypes: Motile Cilia Defects and Situs Inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAH5 | Achchuthan Shanmugasundram reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27637300; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 3, OMIM:608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAH14 | Achchuthan Shanmugasundram reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: ; Publications: 35438214; Phenotypes: DNAH14-related Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAAF5 | Achchuthan Shanmugasundram reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23040496; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 18, OMIM:614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAAF4 | Achchuthan Shanmugasundram reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23872636; Phenotypes: PRIMARY CILIARY DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAAF3 | Achchuthan Shanmugasundram reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22387996, 10745040; Phenotypes: PRIMARY CILIARY DYSKINEASIA, OMIM:606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNA2 | Achchuthan Shanmugasundram reviewed gene: DNA2: Rating: RED; Mode of pathogenicity: ; Publications: 24389050; Phenotypes: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DMPK | Achchuthan Shanmugasundram reviewed gene: DMPK: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DMP1 | Achchuthan Shanmugasundram reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033621, 17033625; Phenotypes: HYPOPHOSPHATEMIC RICKETS, AR, OMIM:241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DMD | Achchuthan Shanmugasundram reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: 15643612, 7581396, 10909857, 7881286, 7981590, 17024373, 8361506, 8279470, 1513469, 1757094, 8199594, 8281150, 8301652, 12673664, 8401539, 12754707, 12632325, 8499922, 1301174, 12794683, 8817332, 1549596, 12522557, 1383546, 8401582, 1601417, 8364587, 2071150, 8789442, 1632439, 9683584, 9410897, 8401537, 7951253, 9170407, 1307253; Phenotypes: DUCHENNE MUSCULAR DYSTROPHY, OMIM:310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLX5 | Achchuthan Shanmugasundram reviewed gene: DLX5: Rating: RED; Mode of pathogenicity: Other; Publications: 22121204; Phenotypes: SPLIT HAND AND FOOT MALFORMATION, OMIM:220600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLL4 | Achchuthan Shanmugasundram reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299364; Phenotypes: ADAMS-OLIVER SYNDROME 6, OMIM:616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLL3 | Achchuthan Shanmugasundram reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12791036, 2805381, 10742114; Phenotypes: SPONDYLOCOSTAL DYSOSTOSIS TYPE 1, OMIM:277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLL1 | Achchuthan Shanmugasundram reviewed gene: DLL1: Rating: RED; Mode of pathogenicity: ; Publications: 31353024; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLG5 | Achchuthan Shanmugasundram reviewed gene: DLG5: Rating: RED; Mode of pathogenicity: ; Publications: 32631816; Phenotypes: DLG5-associated developmental disorder (biallelic), DLG5-associated developmental disorder (monoallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLG4 | Achchuthan Shanmugasundram reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27479843; Phenotypes: DLG4 related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLG3 | Achchuthan Shanmugasundram reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 90, OMIM:300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLD | Achchuthan Shanmugasundram reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: ; Publications: 23290025, 8968745; Phenotypes: DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DLAT | Achchuthan Shanmugasundram reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 16049940; Phenotypes: PYRUVATE DEHYDROGENASE E2 DEFICIENCY, OMIM:245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DKC1 | Achchuthan Shanmugasundram reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DKC1-RELATED DYSKERATOSIS CONGENITA, OMIM:314912; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DISP1 | Achchuthan Shanmugasundram reviewed gene: DISP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DIS3L2 | Achchuthan Shanmugasundram reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 6093533, 10508986, 22306653; Phenotypes: PERLMAN SYNDROME, OMIM:267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DIP2B | Achchuthan Shanmugasundram reviewed gene: DIP2B: Rating: RED; Mode of pathogenicity: Other; Publications: 17236128; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE, OMIM:136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHX37 | Achchuthan Shanmugasundram reviewed gene: DHX37: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability and Central Nervous System anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHX34 | Achchuthan Shanmugasundram reviewed gene: DHX34: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHX30 | Achchuthan Shanmugasundram reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100085; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHX16 | Achchuthan Shanmugasundram reviewed gene: DHX16: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability, Central Nervous System anomalies and Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHTKD1 | Achchuthan Shanmugasundram reviewed gene: DHTKD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23141293; Phenotypes: 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA, OMIM:204750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHRS3 | Achchuthan Shanmugasundram reviewed gene: DHRS3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: DHRS3 related craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHPS | Achchuthan Shanmugasundram reviewed gene: DHPS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30661771; Phenotypes: Neurodevelopmental Disorder of Hypusination; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHODH | Achchuthan Shanmugasundram reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: ; Publications: 19915526; Phenotypes: POSTAXIAL ACROFACIAL DYSOSTOSIS, OMIM:263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHFR | Achchuthan Shanmugasundram reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21310277, 21310276; Phenotypes: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OMIM:613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHDDS | Achchuthan Shanmugasundram reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHCR7 | Achchuthan Shanmugasundram reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 20635399, 10677299, 11175299, 16044199, 15952211, 12949967, 9653161, 12794707, 11857552, 10814720, 26969503, 9634533, 9714007, 9683613; Phenotypes: SMITH-LEMLI-OPITZ SYNDROME, OMIM:270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DHCR24 | Achchuthan Shanmugasundram reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DESMOSTEROLOSIS, OMIM:602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DGAT1 | Achchuthan Shanmugasundram reviewed gene: DGAT1: Rating: RED; Mode of pathogenicity: ; Publications: 23114594; Phenotypes: CONGENITAL DIARRHEAL DISORDERS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DEPDC5 | Achchuthan Shanmugasundram reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 10577924, 23542701, 14510823, 9851433, 15329069, 10825362; Phenotypes: FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI, OMIM:604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DENND5A | Achchuthan Shanmugasundram reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27866705; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DEGS1 | Achchuthan Shanmugasundram reviewed gene: DEGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30620337, 31186544; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 18, OMIM:618404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DEAF1 | Achchuthan Shanmugasundram reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26048982, 24726472, 26834045, 21076407; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24, OMIM:615828, Autism, intellectual disability, basal ganglia dysfunction and epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX6 | Achchuthan Shanmugasundram reviewed gene: DDX6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31422817; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX59 | Achchuthan Shanmugasundram reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23972372; Phenotypes: OROFACIODIGITAL SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX58 | Achchuthan Shanmugasundram reviewed gene: DDX58: Rating: RED; Mode of pathogenicity: Other; Publications: 25620203; Phenotypes: SINGLETON-MERTEN SYNDROME, OMIM:182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX54 | Achchuthan Shanmugasundram reviewed gene: DDX54: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability and Central Nervous System anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX3X | Achchuthan Shanmugasundram reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: ; Publications: 25533962, 30734472, 28371085, 30349862, 29490693, 26235985; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 102, OMIM:300958, INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX23 | Achchuthan Shanmugasundram reviewed gene: DDX23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: DDX23-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX11 | Achchuthan Shanmugasundram reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137776, 23033317; Phenotypes: WARSAW BREAKAGE SYNDROME, OMIM:613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDR2 | Achchuthan Shanmugasundram reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19110212, 8434618; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE, OMIM:271665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDOST | Achchuthan Shanmugasundram reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: ; Publications: 22305527; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDHD2 | Achchuthan Shanmugasundram reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176823; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDHD1 | Achchuthan Shanmugasundram reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176821, 15786464; Phenotypes: HEREDITARY SPASTIC PARAPLEGIA, OMIM:615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDC | Achchuthan Shanmugasundram reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20505134; Phenotypes: AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY, OMIM:608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDB2 | Achchuthan Shanmugasundram reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10469312, 8798680, 12812979; Phenotypes: XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, OMIM:278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDB1 | Achchuthan Shanmugasundram reviewed gene: DDB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33743206; Phenotypes: DDB1-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCX | Achchuthan Shanmugasundram reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: ; Publications: 10441340, 9489700, 9489699, 12552055, 11468322; Phenotypes: SUBCORTICAL BAND HETEROTOPIA X-LINKED, OMIM:300067, LISSENCEPHALY X-LINKED TYPE 1, OMIM:300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCHS1 | Achchuthan Shanmugasundram reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24056717; Phenotypes: PERIVENTRICULAR NEURONAL HETEROTOPIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCDC2 | Achchuthan Shanmugasundram reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25557784; Phenotypes: RENAL-HEPATIC CILIOPATHY, OMIM:616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCC | Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28250456; Phenotypes: Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCAF17 | Achchuthan Shanmugasundram reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: WOODHOUSE-SAKATI SYNDROME, OMIM:241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DBT | Achchuthan Shanmugasundram reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MAPLE SYRUP URINE DISEASE, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DAW1 | Achchuthan Shanmugasundram reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074124; Phenotypes: DAW1-associated ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DARS2 | Achchuthan Shanmugasundram reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17384640; Phenotypes: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, OMIM:611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DARS | Achchuthan Shanmugasundram reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23643384; Phenotypes: HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY., OMIM:615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DAG1 | Achchuthan Shanmugasundram reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21388311; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7, OMIM:613818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DACT1 | Achchuthan Shanmugasundram reviewed gene: DACT1: Rating: RED; Mode of pathogenicity: Other; Publications: 22610794, 36066768, 28054444; Phenotypes: Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | D2HGDH | Achchuthan Shanmugasundram reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: 15609246; Phenotypes: D-2-HYDROXYGLUTARIC ACIDURIA 1, OMIM:600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP2U1 | Achchuthan Shanmugasundram reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176821; Phenotypes: HEREDITARY SPASTIC PARAPLEGIA, OMIM:615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP27A1 | Achchuthan Shanmugasundram reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 2019602, 16278884; Phenotypes: Cerebrotendinous xanthomatosis, OMIM:213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP24A1 | Achchuthan Shanmugasundram reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 27394135; Phenotypes: Hereditary 1,25-dihydroxyvitamin D-resistant rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP1B1 | Achchuthan Shanmugasundram reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9463332, 19643970, 15342693, 19807744, 9497261, 10227395, 9097971, 27777502, 12372064; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYFIP2 | Achchuthan Shanmugasundram reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29534297, 31689829, 30664714, 29667327; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYC1 | Achchuthan Shanmugasundram reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23910460; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OMIM:615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYB5R3 | Achchuthan Shanmugasundram reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE, OMIM:250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CWC27 | Achchuthan Shanmugasundram reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: ; Publications: 36718996, 28285769; Phenotypes: Retinitis pigmentosa, skeletal anomalies and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUX2 | Achchuthan Shanmugasundram reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29630738; Phenotypes: Developmental epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUX1 | Achchuthan Shanmugasundram reviewed gene: CUX1: Rating: RED; Mode of pathogenicity: ; Publications: 30014507; Phenotypes: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUL7 | Achchuthan Shanmugasundram reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19225462, 17675530, 16142236; Phenotypes: 3-M SYNDROME 1, OMIM:273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUL4B | Achchuthan Shanmugasundram reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17236139; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED CABEZAS TYPE, OMIM:300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CUL3 | Achchuthan Shanmugasundram reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 32341456, 31696658, 33097317, 27824329; Phenotypes: CUL3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTU2 | Achchuthan Shanmugasundram reviewed gene: CTU2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31301155; Phenotypes: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTSK | Achchuthan Shanmugasundram reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: 10491211, 10878663, 8703060; Phenotypes: PYCNODYSOSTOSIS, OMIM:265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTSD | Achchuthan Shanmugasundram reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: 16685649, 16670177; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 10, OMIM:610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTSA | Achchuthan Shanmugasundram reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8968752, 9603439, 10944848, 1756715, 8514852; Phenotypes: GALACTOSIALIDOSIS, OMIM:256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNS | Achchuthan Shanmugasundram reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10673275, 11565547, 10625078, 9792862, 12442267, 11505338, 10556299, 9537412, 10444339, 19863563; Phenotypes: CYSTINOSIS NEPHROPATHIC TYPE, OMIM:219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNND2 | Achchuthan Shanmugasundram reviewed gene: CTNND2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25807484, 25839933; Phenotypes: CTNND2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNND1 | Achchuthan Shanmugasundram reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32196547, 29348693, 28301459; Phenotypes: Blepharo-cheiro-dontic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNNB1 | Achchuthan Shanmugasundram reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35880249, 30929091, 28514307, 24614104, 27915094, 26968164, 25326669; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 19, OMIM:615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNNA2 | Achchuthan Shanmugasundram reviewed gene: CTNNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30013181; Phenotypes: Disordered cortical neuronal migration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTDP1 | Achchuthan Shanmugasundram reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14517542; Phenotypes: CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME, OMIM:604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTCF | Achchuthan Shanmugasundram reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746550; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTC1 | Achchuthan Shanmugasundram reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22267198, 22387016; Phenotypes: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, OMIM:612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTBP1 | Achchuthan Shanmugasundram reviewed gene: CTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CTBP1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSTB | Achchuthan Shanmugasundram reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012407, 8596935, 9342192, 15329070; Phenotypes: UNVERRICHT-LUNDBORG DISEASE, OMIM:254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSTA | Achchuthan Shanmugasundram reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: ; Publications: 21944047; Phenotypes: EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE, OMIM:607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSPP1 | Achchuthan Shanmugasundram reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24360808; Phenotypes: JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSNK2B | Achchuthan Shanmugasundram reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CSNK2B-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSNK2A1 | Achchuthan Shanmugasundram reviewed gene: CSNK2A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CSNK2A1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSNK1G1 | Achchuthan Shanmugasundram reviewed gene: CSNK1G1: Rating: RED; Mode of pathogenicity: Other; Publications: 24463883; Phenotypes: EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSF1R | Achchuthan Shanmugasundram reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 30982609, 30982608; Phenotypes: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS, OMIM:618476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSDE1 | Achchuthan Shanmugasundram reviewed gene: CSDE1: Rating: RED; Mode of pathogenicity: ; Publications: 33867523, 31579823; Phenotypes: CSDE1-associated intellectual disability and autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYGD | Achchuthan Shanmugasundram reviewed gene: CRYGD: Rating: RED; Mode of pathogenicity: ; Publications: 9927684, 17564961, 12011157, 10915766, 10521291; Phenotypes: Cataract 2, multiple types, OMIM:115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYGC | Achchuthan Shanmugasundram reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521291, 10914683, 12011157; Phenotypes: Cataract 2, multiple types, OMIM:604219; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB3 | Achchuthan Shanmugasundram reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15914629; Phenotypes: CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2, OMIM:609741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB2 | Achchuthan Shanmugasundram reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8812489, 11424921; Phenotypes: CATARACT, CONGENITAL, CERULEAN TYPE, 2, OMIM:601547, CATARACT, COPPOCK-LIKE, OMIM:604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB1 | Achchuthan Shanmugasundram reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17460281, 12360425; Phenotypes: CATARACT 17, MULTIPLE TYPES, OMIM:611544, CATARACT 17, MULTIPLE TYPES, MONOALLELIC, OMIM:611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBA4 | Achchuthan Shanmugasundram reviewed gene: CRYBA4: Rating: RED; Mode of pathogenicity: Other; Publications: 16960806, 15452067, 20577656; Phenotypes: MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBA1 | Achchuthan Shanmugasundram reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14598164; Phenotypes: CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES, OMIM:600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYAB | Achchuthan Shanmugasundram reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: 11577372, 21337604; Phenotypes: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED, OMIM:613869, CATARACT POSTERIOR POLAR TYPE 2, OMIM:613763; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYAA | Achchuthan Shanmugasundram reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 11006246, 19182255; Phenotypes: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1, OMIM:604219, CATARACT, NUCLEAR, OMIM:123580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRX | Achchuthan Shanmugasundram reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792858, 9390563, 15531334, 17320181, 25270190, 9537410, 9427255, 9931337, 12208271; Phenotypes: CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7, OMIM:613829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRLS1 | Achchuthan Shanmugasundram reviewed gene: CRLS1: Rating: RED; Mode of pathogenicity: Other; Publications: 35147173; Phenotypes: CRLS1-related mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRKL | Achchuthan Shanmugasundram reviewed gene: CRKL: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: Bladder exstrophy plus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRIPT | Achchuthan Shanmugasundram reviewed gene: CRIPT: Rating: RED; Mode of pathogenicity: ; Publications: 24389050; Phenotypes: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRIM1 | Achchuthan Shanmugasundram reviewed gene: CRIM1: Rating: RED; Mode of pathogenicity: ; Publications: 25561690; Phenotypes: Colobomatous macrophthalmia with microcornea syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRELD1 | Achchuthan Shanmugasundram reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CREBBP | Achchuthan Shanmugasundram reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 12114483, 12566391, 30737887, 20684013, 29460469, 27311832, 7630403, 11331617; Phenotypes: RUBINSTEIN-TAYBI SYNDROME TYPE 1, OMIM:180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRBN | Achchuthan Shanmugasundram reviewed gene: CRBN: Rating: RED; Mode of pathogenicity: ; Publications: 18414909; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 2A, OMIM:607417; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRB2 | Achchuthan Shanmugasundram reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25557780; Phenotypes: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, OMIM:219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRB1 | Achchuthan Shanmugasundram reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16543197, 19140180, 11231775, 11389483, 10508521; Phenotypes: CRB1-related Leber Congenital Amaurosis and Retinitis Pigmentosa, OMIM:613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRADD | Achchuthan Shanmugasundram reviewed gene: CRADD: Rating: RED; Mode of pathogenicity: Other; Publications: 27773430, 22279524; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CPSF3 | Achchuthan Shanmugasundram reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35121750; Phenotypes: CPSF3-associated neurodevelopmental disorder with seizures and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CPS1 | Achchuthan Shanmugasundram reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9711878, 19793055, 11474210, 8486760, 17310273; Phenotypes: CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, OMIM:237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CPAMD8 | Achchuthan Shanmugasundram reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839872; Phenotypes: Anterior Segment Dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX7B | Achchuthan Shanmugasundram reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 9747372, 23122588; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN LESIONS, OMIM:300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX6B1 | Achchuthan Shanmugasundram reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX16 | Achchuthan Shanmugasundram reviewed gene: COX16: Rating: GREEN; Mode of pathogenicity: ; Publications: 33169484; Phenotypes: COX16-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX15 | Achchuthan Shanmugasundram reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COX15-related Leigh Syndrome, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX14 | Achchuthan Shanmugasundram reviewed gene: COX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX10 | Achchuthan Shanmugasundram reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15455402, 10767350, 12928484; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ9 | Achchuthan Shanmugasundram reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: ; Publications: 19375058; Phenotypes: COENZYME Q10 DEFICIENCY, OMIM:607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ8A | Achchuthan Shanmugasundram reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COENZYME Q10 DEFICIENCY, OMIM:607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ5 | Achchuthan Shanmugasundram reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ4 | Achchuthan Shanmugasundram reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25658047; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 7, OMIM:616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ2 | Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17332895; Phenotypes: COENZYME Q10 DEFICIENCY, OMIM:607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COPB2 | Achchuthan Shanmugasundram reviewed gene: COPB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34450031, 29036432; Phenotypes: COPB2-associated developmental delay and microcephaly, OMIM:617800, COPB2-related developmental delay and osteopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COPB1 | Achchuthan Shanmugasundram reviewed gene: COPB1: Rating: RED; Mode of pathogenicity: Other; Publications: 33632302; Phenotypes: COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COMP | Achchuthan Shanmugasundram reviewed gene: COMP: Rating: RED; Mode of pathogenicity: Other; Publications: 9021009, 9463320, 12483304, 7670472, 9887340; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COLEC11 | Achchuthan Shanmugasundram reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 2569826, 21258343, 8933348; Phenotypes: 3MC SYNDROME 2, OMIM:265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COLEC10 | Achchuthan Shanmugasundram reviewed gene: COLEC10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28301481, 35943032; Phenotypes: 3MC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL9A3 | Achchuthan Shanmugasundram reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10090888, 10655510, 30450842, 24273071, 15551337, 31090205; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3, OMIM:600969, Stickler syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL9A2 | Achchuthan Shanmugasundram reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8528240, 21671392, 10364514, 31090205, 12244547; Phenotypes: STICKLER SYNDROME, TYPE V, OMIM:614284, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2, OMIM:600204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL9A1 | Achchuthan Shanmugasundram reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16909383, 11565064; Phenotypes: STICKLER SYNDROME TYPE 4, OMIM:614134, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6, OMIM:614135; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL6A3 | Achchuthan Shanmugasundram reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992252; Phenotypes: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OMIM:254090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL6A2 | Achchuthan Shanmugasundram reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34167565, 15563506, 20106987, 11381124, 16075202, 19564581, 12218063; Phenotypes: COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090, COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL6A1 | Achchuthan Shanmugasundram reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: COL6A1 associated myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL4A4 | Achchuthan Shanmugasundram reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 7987396, 9269635; Phenotypes: ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL4A3BP | Achchuthan Shanmugasundram reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25533962; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL4A3 | Achchuthan Shanmugasundram reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792860, 7633417, 7987301, 11134255, 9269635, 7987396; Phenotypes: ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780, ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL4A2 | Achchuthan Shanmugasundram reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PORENCEPHALY 2, OMIM:614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL4A1 | Achchuthan Shanmugasundram reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PORENCEPHALY 1, OMIM:175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL2A1 | Achchuthan Shanmugasundram reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14729840, 2339128, 3195588, 8723097, 1429602, 8325895, 15054848, 7849719, 7829510, 26443184, 2543071, 16088915, 8486375, 26626311, 8423604, 15671297, 26358419, 7757081, 7550321, 16752401, 1374906, 17721977, 7981752, 25060605, 7874117, 15316962; Phenotypes: ACHONDROGENESIS TYPE 2, OMIM:200610, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, OMIM:609508, KNIEST DYSPLASIA, OMIM:156550, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, OMIM:183900, SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, OMIM:184250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL27A1 | Achchuthan Shanmugasundram reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28322503, 28276056, 31903681, 24986830; Phenotypes: Steel Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL25A1 | Achchuthan Shanmugasundram reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25500261; Phenotypes: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, OMIM:616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL1A1 | Achchuthan Shanmugasundram reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8097422, 12538651, 2339700, 8950680, 15728585, 8364588, 1864604, 15024692, 2037280, 7816518, 2794057, 1770532, 3403550, 8910493, 1737847, 3108247, 3082886, 2913053, 9295084, 1988452, 8100209, 8723681, 7881420, 2500431, 8757037, 2309707, 2511192, 1874719, 9067755, 34272483, 8456809, 15864348, 8786074, 3667599, 1634225, 7789952, 11286507, 21834035, 18409203, 2298750, 2295701, 1613761, 8408653; Phenotypes: COL1A1-RELATED OSTEOGENESIS IMPERFECTA, OMIM:166200, CAFFEY DISEASE, OMIM:114000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL18A1 | Achchuthan Shanmugasundram reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19390655, 10942434, 27259167, 12415512, 25456301, 28602933; Phenotypes: KNOBLOCH SYNDROME TYPE I, OMIM:267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL13A1 | Achchuthan Shanmugasundram reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26626625; Phenotypes: Congenital Myasthenic Syndrome Type 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL11A2 | Achchuthan Shanmugasundram reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16033917, 10581026, 16189708, 15558753, 16637051, 7833911, 15372529, 10677296, 7859284, 9506662, 14234962; Phenotypes: STICKLER SYNDROME TYPE 3, OMIM:184840, DEAFNESS AUTOSOMAL DOMINANT TYPE 13, OMIM:601868, DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, OMIM:609706, AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OMIM:215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL11A1 | Achchuthan Shanmugasundram reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10573014, 17236192, 27081569, 25091507, 25073711, 8872475, 21035103, 9529347, 10486316, 22499343; Phenotypes: FIBROCHONDROGENESIS, OMIM:228520, STICKLER SYNDROME, TYPE II, OMIM:604841; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL10A1 | Achchuthan Shanmugasundram reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7607655, 17403716, 9852679, 8554571, 8012364, 9525992, 9468540, 8304336, 8986632, 9067753, 10991694, 8004099, 12554676, 7749409; Phenotypes: SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA, OMIM:156500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG8 | Achchuthan Shanmugasundram reviewed gene: COG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG8-CDG, OMIM:300204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG7 | Achchuthan Shanmugasundram reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG7-CDG, OMIM:300171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG5 | Achchuthan Shanmugasundram reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG5-CDG, OMIM:319494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG4 | Achchuthan Shanmugasundram reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30290151; Phenotypes: Saul Wilson Syndrome, OMIM:618150, COG4-CDG, OMIM:319493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COG1 | Achchuthan Shanmugasundram reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG1-CDG, OMIM:300197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COASY | Achchuthan Shanmugasundram reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: 35499143, 24360804; Phenotypes: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COA5 | Achchuthan Shanmugasundram reviewed gene: COA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNTNAP2 | Achchuthan Shanmugasundram reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11568923, 19896112, 16571880; Phenotypes: CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME, OMIM:610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNTNAP1 | Achchuthan Shanmugasundram reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24319099; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OMIM:616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNPY3 | Achchuthan Shanmugasundram reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29394991; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNOT3 | Achchuthan Shanmugasundram reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CNOT3 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNOT1 | Achchuthan Shanmugasundram reviewed gene: CNOT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31006513, 32553196, 31006510; Phenotypes: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS, OMIM:618500, CNOT1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNNM2 | Achchuthan Shanmugasundram reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21397062, 30026055, 24699222; Phenotypes: CNNM2-related neurodevelopmental disorder with hypomagnesemia, autosomal recessive form; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNKSR2 | Achchuthan Shanmugasundram reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381, 22511892; Phenotypes: INTELLECTUAL DISABILITY WITH EPILEPSY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNKSR1 | Achchuthan Shanmugasundram reviewed gene: CNKSR1: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLTC | Achchuthan Shanmugasundram reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26822784, 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLPP | Achchuthan Shanmugasundram reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541340; Phenotypes: PERRAULT SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLPB | Achchuthan Shanmugasundram reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 25597510, 28687938; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, OMIM:616271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLP1 | Achchuthan Shanmugasundram reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24766809; Phenotypes: PONTOCEREBELLAR HYPOPLASIA, TYPE 10, OMIM:615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLN8 | Achchuthan Shanmugasundram reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: 16570191, 19431184, 10508524; Phenotypes: NEURONAL CEROID LIPOFUSCINOSIS TYPE 8, OMIM:600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLN6 | Achchuthan Shanmugasundram reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11727201, 15996215, 11791207; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLN5 | Achchuthan Shanmugasundram reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9662406, 18684116, 15728307, 20157158; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 5, OMIM:256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLN3 | Achchuthan Shanmugasundram reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19489875, 7887420, 9450775, 7553855; Phenotypes: NEURONAL CEROID LIPOFUSCINOSIS TYPE 3, OMIM:204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLMP | Achchuthan Shanmugasundram reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: ; Publications: 22155368; Phenotypes: CONGENITAL SHORT BOWEL SYNDROME, OMIM:615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLIC2 | Achchuthan Shanmugasundram reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: Other; Publications: 22814392; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-linked, syndromic 32, OMIM:300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLDN5 | Achchuthan Shanmugasundram reviewed gene: CLDN5: Rating: RED; Mode of pathogenicity: Other; Publications: 35714222; Phenotypes: CLDN5-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLDN19 | Achchuthan Shanmugasundram reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17033971; Phenotypes: HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCNKB | Achchuthan Shanmugasundram reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15044642, 18310267; Phenotypes: BARTTER SYNDROME TYPE 4B, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCNKA | Achchuthan Shanmugasundram reviewed gene: CLCNKA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: BARTTER SYNDROME TYPE 4B, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCN7 | Achchuthan Shanmugasundram reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033731, 11741829, 11207362; Phenotypes: CLCN7-RELATED OSTEOPETROSIS, OMIM:611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCN6 | Achchuthan Shanmugasundram reviewed gene: CLCN6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33217309, 28074849, 29667327; Phenotypes: CLCN6-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCN4 | Achchuthan Shanmugasundram reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25644381, 27550844, 23647072; Phenotypes: INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCN3 | Achchuthan Shanmugasundram reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34186028; Phenotypes: CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512, CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CKAP2L | Achchuthan Shanmugasundram reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CIT | Achchuthan Shanmugasundram reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27453578; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CISD2 | Achchuthan Shanmugasundram reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28335035, 25056293, 17846994, 10739754; Phenotypes: WOLFRAM SYNDROME TYPE 2, OMIM:604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CIC | Achchuthan Shanmugasundram reviewed gene: CIC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35165976, 28288114, 21076407; Phenotypes: CIC-related neurodevelopmental disorder, OMIM:612082; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CIB2 | Achchuthan Shanmugasundram reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023331, 18505454; Phenotypes: USHER SYNDROME TYPE 1J, OMIM:614869, NONSYNDROMIC DEAFNESS DFNB48, OMIM:609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHUK | Achchuthan Shanmugasundram reviewed gene: CHUK: Rating: GREEN; Mode of pathogenicity: ; Publications: 20961246; Phenotypes: COCOON SYNDROME, OMIM:613630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHSY1 | Achchuthan Shanmugasundram reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21129727, 19952732, 21129728, 9823490; Phenotypes: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, OMIM:605282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHST3 | Achchuthan Shanmugasundram reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19320654, 20830804, 112567, 15098240, 18513679, 18698629; Phenotypes: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OMIM:143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHST14 | Achchuthan Shanmugasundram reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: 20533528, 20004762; Phenotypes: EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE, OMIM:601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNG | Achchuthan Shanmugasundram reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: ; Publications: 16826520; Phenotypes: MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT, OMIM:265000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNB2 | Achchuthan Shanmugasundram reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062464; Phenotypes: CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNB1 | Achchuthan Shanmugasundram reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8872460, 10562302, 33296147, 27375219, 8651643; Phenotypes: CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314, CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA4 | Achchuthan Shanmugasundram reviewed gene: CHRNA4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7647781; Phenotypes: NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1, OMIM:600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA3 | Achchuthan Shanmugasundram reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31708116; Phenotypes: CHRNA3-related congenital anomalies of the kidney and urinary tract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA2 | Achchuthan Shanmugasundram reviewed gene: CHRNA2: Rating: RED; Mode of pathogenicity: Other; Publications: 25770198, 25847220, 16826524, 30809122; Phenotypes: CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA1 | Achchuthan Shanmugasundram reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE, OMIM:253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRM1 | Achchuthan Shanmugasundram reviewed gene: CHRM1: Rating: RED; Mode of pathogenicity: Other; Publications: 34212451; Phenotypes: CHRM1-associated intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRDL1 | Achchuthan Shanmugasundram reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284829, 26020825, 25712132; Phenotypes: MEGALOCORNEA, X-LINKED, OMIM:309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHMP1A | Achchuthan Shanmugasundram reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023333; Phenotypes: PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY, OMIM:614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHM | Achchuthan Shanmugasundram reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: ; Publications: 21905166, 1302003, 28271586, 27070432, 7981670, 27820636, 12827496, 8477262, 1598901; Phenotypes: CHOROIDEREMIA, OMIM:303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHKA | Achchuthan Shanmugasundram reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: ; Publications: 35202461; Phenotypes: CHKA-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD8 | Achchuthan Shanmugasundram reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 23160955; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD7 | Achchuthan Shanmugasundram reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 16400610, 17661815, 18978652, 17334995, 26590800, 17937444, 15300250, 18074359; Phenotypes: CHARGE SYNDROME, OMIM:214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD5 | Achchuthan Shanmugasundram reviewed gene: CHD5: Rating: RED; Mode of pathogenicity: ; Publications: 33944996; Phenotypes: CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD4 | Achchuthan Shanmugasundram reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616479, 27479907; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD3 | Achchuthan Shanmugasundram reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30397230; Phenotypes: Macrocephaly and impaired speech and language; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD2 | Achchuthan Shanmugasundram reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23708187; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD1 | Achchuthan Shanmugasundram reviewed gene: CHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28866611; Phenotypes: CHD1-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHAMP1 | Achchuthan Shanmugasundram reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27148580, 26340335, 26751395, 35271727, 36106092; Phenotypes: CHAMP1-related neurodevelopmental disorder, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CFL2 | Achchuthan Shanmugasundram reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17160903; Phenotypes: NEMALINE MYOPATHY 7, OMIM:610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CFC1 | Achchuthan Shanmugasundram reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS, OMIM:319372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP85L | Achchuthan Shanmugasundram reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32097630; Phenotypes: CEP85L-associated posterior-predominant lissencephaly, OMIM:618873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP83 | Achchuthan Shanmugasundram reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: ; Publications: 24882706; Phenotypes: INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP63 | Achchuthan Shanmugasundram reviewed gene: CEP63: Rating: GREEN; Mode of pathogenicity: ; Publications: 21983783; Phenotypes: SECKEL SYNDROME 6, OMIM:614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP57 | Achchuthan Shanmugasundram reviewed gene: CEP57: Rating: GREEN; Mode of pathogenicity: ; Publications: 21552266, 12116237; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, OMIM:614114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP41 | Achchuthan Shanmugasundram reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: ; Publications: 22246503; Phenotypes: JOUBERT SYNDROME 15, OMIM:614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP290 | Achchuthan Shanmugasundram reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: 17705300, 16682970, 17554762, 22355252, 17564967, 17564974, 18327255, 16682973, 20690115, 16909394; Phenotypes: JOUBERT SYNDROME TYPE 5, OMIM:610188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP152 | Achchuthan Shanmugasundram reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131973; Phenotypes: CEP152-related Developmental Disorder, OMIM:604321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP135 | Achchuthan Shanmugasundram reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: ; Publications: 22521416; Phenotypes: PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION, OMIM:614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP104 | Achchuthan Shanmugasundram reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: ; Publications: 26477546; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CENPJ | Achchuthan Shanmugasundram reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: ; Publications: 20522431, 20978018, 16900296, 12843329, 15793586; Phenotypes: CENPJ-related developmental disorder, OMIM:613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CENPF | Achchuthan Shanmugasundram reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27300082, 26820108, 28407396; Phenotypes: Stromme syndrome, OMIM:243605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CELF2 | Achchuthan Shanmugasundram reviewed gene: CELF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33131106; Phenotypes: CELF2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDT1 | Achchuthan Shanmugasundram reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21358632, 11992493; Phenotypes: MEIER-GORLIN SYNDROME 4, OMIM:613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDON | Achchuthan Shanmugasundram reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21802063; Phenotypes: HOLOPROSENCEPHALY 11, OMIM:614226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDKN1C | Achchuthan Shanmugasundram reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 9341892, 8841187, 14997421, 24624461, 20503313, 22634751, 28508599; Phenotypes: IMAGe Syndrome, OMIM:614732, BECKWITH-WIEDEMANN SYNDROME, OMIM:130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDKL5 | Achchuthan Shanmugasundram reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19241098, 35934918, 17993579, 18809835, 15499549, 15689447, 19793311, 15492925, 16611748, 16813600, 19396824; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2, OMIM:300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK8 | Achchuthan Shanmugasundram reviewed gene: CDK8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30905399; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK5RAP2 | Achchuthan Shanmugasundram reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32015000; Phenotypes: PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY, OMIM:279936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK19 | Achchuthan Shanmugasundram reviewed gene: CDK19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32330417; Phenotypes: CDK19-associated Intellectual Disability and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK16 | Achchuthan Shanmugasundram reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: 25644381, 36323681; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK13 | Achchuthan Shanmugasundram reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 29021403, 29222009, 28807008, 29393965; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK10 | Achchuthan Shanmugasundram reviewed gene: CDK10: Rating: RED; Mode of pathogenicity: ; Publications: 28886341, 29130579; Phenotypes: Severe Growth Retardation, Spine Malformations, and Developmental Delays; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH3 | Achchuthan Shanmugasundram reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15805154, 11544476, 22140374, 12445216; Phenotypes: EEM SYNDROME, OMIM:225280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH23 | Achchuthan Shanmugasundram reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: ; Publications: 21228398, 17850630, 12075507, 11138009, 15829536, 11090341, 15537665; Phenotypes: DEAFNESS AUTOSOMAL RECESSIVE TYPE 12, OMIM:601386, USHER SYNDROME TYPE 1D, OMIM:601067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH2 | Achchuthan Shanmugasundram reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31585109, 31650526; Phenotypes: Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH15 | Achchuthan Shanmugasundram reviewed gene: CDH15: Rating: RED; Mode of pathogenicity: ; Publications: 26506440, 19012874; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 3, OMIM:612580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH11 | Achchuthan Shanmugasundram reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: ; Publications: 30194892, 28988429, 29271567, 34278706; Phenotypes: CDH11-related, OMIM:211380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH1 | Achchuthan Shanmugasundram reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29348693; Phenotypes: Blepharo-cheiro-dontic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC6 | Achchuthan Shanmugasundram reviewed gene: CDC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11477602; Phenotypes: MEIER-GORLIN SYNDROME 5, OMIM:613805; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC45 | Achchuthan Shanmugasundram reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: ; Publications: 27374770; Phenotypes: Meier-Gorlin Syndrome and Craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC42BPB | Achchuthan Shanmugasundram reviewed gene: CDC42BPB: Rating: RED; Mode of pathogenicity: ; Publications: 32031333; Phenotypes: CDC42BPB-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC42 | Achchuthan Shanmugasundram reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26708094, 29394990, 26386261; Phenotypes: CDC42-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC40 | Achchuthan Shanmugasundram reviewed gene: CDC40: Rating: RED; Mode of pathogenicity: Other; Publications: 33220177; Phenotypes: CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CD96 | Achchuthan Shanmugasundram reviewed gene: CD96: Rating: RED; Mode of pathogenicity: ; Publications: 17847009; Phenotypes: C SYNDROME, OMIM:211750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CD151 | Achchuthan Shanmugasundram reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: ; Publications: 15265795; Phenotypes: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, OMIM:609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCNO | Achchuthan Shanmugasundram reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: 24747639; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 29, OMIM:615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCNK | Achchuthan Shanmugasundram reviewed gene: CCNK: Rating: RED; Mode of pathogenicity: ; Publications: 30122539; Phenotypes: Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCND2 | Achchuthan Shanmugasundram reviewed gene: CCND2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24705253; Phenotypes: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCNA2 | Achchuthan Shanmugasundram reviewed gene: CCNA2: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC88C | Achchuthan Shanmugasundram reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: ; Publications: 23042809; Phenotypes: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE, OMIM:236600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC88A | Achchuthan Shanmugasundram reviewed gene: CCDC88A: Rating: RED; Mode of pathogenicity: ; Publications: 26917597; Phenotypes: PEHO-like syndrome, OMIM:617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC8 | Achchuthan Shanmugasundram reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21737058; Phenotypes: THREE M SYNDROME 3, OMIM:614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC78 | Achchuthan Shanmugasundram reviewed gene: CCDC78: Rating: GREEN; Mode of pathogenicity: ; Publications: 22818856; Phenotypes: CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES, OMIM:614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC65 | Achchuthan Shanmugasundram reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC47 | Achchuthan Shanmugasundram reviewed gene: CCDC47: Rating: GREEN; Mode of pathogenicity: ; Publications: 30401460; Phenotypes: Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC40 | Achchuthan Shanmugasundram reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131974; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 15, OMIM:613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC39 | Achchuthan Shanmugasundram reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131972; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 14, OMIM:613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC32 | Achchuthan Shanmugasundram reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 35451546, 32307552; Phenotypes: CCDC32-associated neurodevelopmental syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC22 | Achchuthan Shanmugasundram reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC X-LINKED INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC151 | Achchuthan Shanmugasundram reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: 25192045; Phenotypes: PRIMARY CILLARY DYSKINEASIA, OMIM:616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC115 | Achchuthan Shanmugasundram reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: ; Publications: 26833332; Phenotypes: Disorder of Golgi homeostasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC114 | Achchuthan Shanmugasundram reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261303, 23261302; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC103 | Achchuthan Shanmugasundram reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: 22581229; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCBE1 | Achchuthan Shanmugasundram reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19935664; Phenotypes: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME, OMIM:235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CC2D2A | Achchuthan Shanmugasundram reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513680, 18950740, 18387594, 23351400, 20671153, 19777577, 2929661, 19574260, 8862632, 22246503; Phenotypes: JOUBERT SYNDROME 9, OMIM:612285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CC2D1A | Achchuthan Shanmugasundram reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16033914; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 3, OMIM:608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CBS | Achchuthan Shanmugasundram reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8353501, 8528202, 1301198, 10780316, 9361025, 7506602, 8990018, 14635102, 16479318, 10338090, 8755636; Phenotypes: CYSTATHIONINE BETA-SYNTHASE DEFICIENCY, OMIM:236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CBL | Achchuthan Shanmugasundram reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20694012, 20543203, 20619386; Phenotypes: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA, OMIM:613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAV1 | Achchuthan Shanmugasundram reviewed gene: CAV1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3, OMIM:612526; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CASP2 | Achchuthan Shanmugasundram reviewed gene: CASP2: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CASK | Achchuthan Shanmugasundram reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 19200522, 19165920, 21954287, 19377476, 20029458; Phenotypes: MRX WITH/WITHOUT NYSTAGMUS, OMIM:300749, FG SYNDROME TYPE 4, OMIM:300422, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED CASK-RELATED, OMIM:300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CARS2 | Achchuthan Shanmugasundram reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25361775, 25787132; Phenotypes: Epileptic encephalopathy with complex movement disorder and regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CARS | Achchuthan Shanmugasundram reviewed gene: CARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30824121; Phenotypes: Microcephaly Developmental Delay and Brittle Hair and Nails; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAPRIN1 | Achchuthan Shanmugasundram reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23849776, 35979925; Phenotypes: CAPRIN1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAPN10 | Achchuthan Shanmugasundram reviewed gene: CAPN10: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CANT1 | Achchuthan Shanmugasundram reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19853239; Phenotypes: Desbuquois dysplasia 1, OMIM:251450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMTA1 | Achchuthan Shanmugasundram reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693284; Phenotypes: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMSAP1 | Achchuthan Shanmugasundram reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36283405; Phenotypes: CAMSAP1-associated neuronal migration disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMK2G | Achchuthan Shanmugasundram reviewed gene: CAMK2G: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23033978, 30184290; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMK2B | Achchuthan Shanmugasundram reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100089, 29560374; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMK2A | Achchuthan Shanmugasundram reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100089, 29560374; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAD | Achchuthan Shanmugasundram reviewed gene: CAD: Rating: GREEN; Mode of pathogenicity: ; Publications: 25678555, 28007989; Phenotypes: Uridine-responsive epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNB4 | Achchuthan Shanmugasundram reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: 10762541; Phenotypes: JUVENILE MYOCLONIC EPILEPSY, OMIM:611136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA2D1 | Achchuthan Shanmugasundram reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: Other; Publications: 35293990; Phenotypes: CACNA2D1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1H | Achchuthan Shanmugasundram reviewed gene: CACNA1H: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6, OMIM:611942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1G | Achchuthan Shanmugasundram reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, CACNA1G-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1E | Achchuthan Shanmugasundram reviewed gene: CACNA1E: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30343943; Phenotypes: Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1D | Achchuthan Shanmugasundram reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131953, 23913001; Phenotypes: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OMIM:615474, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, OMIM:614896; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1C | Achchuthan Shanmugasundram reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15454078; Phenotypes: TIMOTHY SYNDROME, OMIM:601005; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1B | Achchuthan Shanmugasundram reviewed gene: CACNA1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30982612; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS, OMIM:618497; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1A | Achchuthan Shanmugasundram reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28927557, 27476654, 23934111, 29366381, 28742085; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CA8 | Achchuthan Shanmugasundram reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19461874; Phenotypes: CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 3, OMIM:613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CA5A | Achchuthan Shanmugasundram reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24530203; Phenotypes: HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, OMIM:615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CA2 | Achchuthan Shanmugasundram reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8127074, 12566520, 5041390, 1301935; Phenotypes: OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3, OMIM:259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C8orf37 | Achchuthan Shanmugasundram reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: ; Publications: 27008867, 26854863, 25802487, 22177090, 26865426, 25113443; Phenotypes: CONE-ROD DYSTROPHY 16, OMIM:614500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C5orf42 | Achchuthan Shanmugasundram reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C4orf26 | Achchuthan Shanmugasundram reviewed gene: C4orf26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22901946; Phenotypes: AMYELOGENESIS, OMIM:614832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C2orf71 | Achchuthan Shanmugasundram reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: ; Publications: 27029556, 20398886, 24780881, 20398884; Phenotypes: RETINITIS PIGMENTOSA 54, OMIM:613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C2CD3 | Achchuthan Shanmugasundram reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24997988; Phenotypes: OROFACIODIGITAL SYNDROME XIV, OMIM:615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C21orf59 | Achchuthan Shanmugasundram reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C21orf2 | Achchuthan Shanmugasundram reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26974433; Phenotypes: Axial Spondylometaphyseal Dysplasia, OMIM:602271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C1QBP | Achchuthan Shanmugasundram reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942965; Phenotypes: Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C12orf65 | Achchuthan Shanmugasundram reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 24198383, 26380172, 24424123, 24284555, 24080142, 20598281, 23188110, 27858754; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, OMIM:613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C12orf57 | Achchuthan Shanmugasundram reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24798461, 23453666; Phenotypes: TEMTAMY SYNDROME, COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY, OMIM:218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C11orf70 | Achchuthan Shanmugasundram reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727692, 29727693; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BUB1B | Achchuthan Shanmugasundram reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21190457, 9916837, 16411201, 11169558, 15475955; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OMIM:257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BUB1 | Achchuthan Shanmugasundram reviewed gene: BUB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35044816; Phenotypes: BUB1-related microcephaly and developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BTD | Achchuthan Shanmugasundram reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: ; Publications: 7550325, 9158148, 9375914, 8894703, 10801053, 9705240, 9099842; Phenotypes: BIOTINIDASE DEFICIENCY, OMIM:253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BSND | Achchuthan Shanmugasundram reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: ; Publications: 12574213, 11687798, 19646679; Phenotypes: BARTTER SYNDROME TYPE 4A, OMIM:602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BSN | Achchuthan Shanmugasundram reviewed gene: BSN: Rating: RED; Mode of pathogenicity: Other; Publications: 36600631; Phenotypes: BSN-related epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRWD3 | Achchuthan Shanmugasundram reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17668385, 30628072, 31714006; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 93, OMIM:300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRSK2 | Achchuthan Shanmugasundram reviewed gene: BRSK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30879638; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRPF1 | Achchuthan Shanmugasundram reviewed gene: BRPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27939640, 27939639; Phenotypes: BRPF1 associated syndromic intellectual disability with ptosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRIP1 | Achchuthan Shanmugasundram reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116424; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP J, OMIM:609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRF1 | Achchuthan Shanmugasundram reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27748960, 25561519, 32896090; Phenotypes: BRF1-related cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRD4 | Achchuthan Shanmugasundram reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30302754, 29379197; Phenotypes: CORNELIA DE LANGE-LIKE SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRCA2 | Achchuthan Shanmugasundram reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15070707, 12065746, 14670928; Phenotypes: FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1, OMIM:605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRCA1 | Achchuthan Shanmugasundram reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34680915, 12624153; Phenotypes: BRCA1-related Fanconi anaemia, OMIM:227650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRAT1 | Achchuthan Shanmugasundram reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22279524; Phenotypes: LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME, OMIM:614498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRAF | Achchuthan Shanmugasundram reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16372351, 19206169, 16474404, 18042262; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BPTF | Achchuthan Shanmugasundram reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942966; Phenotypes: Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BOLA3 | Achchuthan Shanmugasundram reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11156534; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2, OMIM:614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BNC2 | Achchuthan Shanmugasundram reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31051115; Phenotypes: Congenital Lower Urinary Tract Obstruction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BMPR1B | Achchuthan Shanmugasundram reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203755, 14523231; Phenotypes: BRACHYDACTYLY TYPE A2, OMIM:112600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BMPER | Achchuthan Shanmugasundram reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: ; Publications: 20869035; Phenotypes: DIAPHANOSPONDYLODYSOSTOSIS, OMIM:608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BMP4 | Achchuthan Shanmugasundram reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252212, 19249007, 21340693; Phenotypes: BMP4-associated malformations, OMIM:607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BMP2 | Achchuthan Shanmugasundram reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BLOC1S6 | Achchuthan Shanmugasundram reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21665000, 22461475; Phenotypes: HERMANSKY-PUDLAK SYNDROME 9, OMIM:614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BLM | Achchuthan Shanmugasundram reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: 10678659, 7585968, 8875252; Phenotypes: BLOOM SYNDROME, OMIM:210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BIN1 | Achchuthan Shanmugasundram reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17676042, 20142620; Phenotypes: CENTRONUCLEAR MYOPATHY 2, OMIM:255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BICRA | Achchuthan Shanmugasundram reviewed gene: BICRA: Rating: GREEN; Mode of pathogenicity: ; Publications: 33232675; Phenotypes: BICRA-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BICD2 | Achchuthan Shanmugasundram reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23664120; Phenotypes: Proximal spinal muscular atrophy with brain anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BHLHA9 | Achchuthan Shanmugasundram reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22147889, 23790188, 25466284; Phenotypes: MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE, OMIM:69432, SPLIT HAND AND FOOT MALFORMATION, OMIM:220600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BGN | Achchuthan Shanmugasundram reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27632686, 27236923, 34807424; Phenotypes: Severe syndromic form of thoracic aortic aneurysm & dissection, X-Linked Spondyloepimetaphyseal Dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BFSP2 | Achchuthan Shanmugasundram reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10634598, 10729115; Phenotypes: CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED, OMIM:611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCS1L | Achchuthan Shanmugasundram reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 12215968; Phenotypes: GRACILE SYNDROME, OMIM:603358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCORL1 | Achchuthan Shanmugasundram reviewed gene: BCORL1: Rating: RED; Mode of pathogenicity: Other; Publications: 30941876, 33810051, 34400773, 24123876; Phenotypes: Shukla-Vernon Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCOR | Achchuthan Shanmugasundram reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 29974297, 28317252, 19367324, 15957158, 31048080, 15004558, 15770227; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 2, OMIM:300166; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCL11B | Achchuthan Shanmugasundram reviewed gene: BCL11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BCL11B-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCL11A | Achchuthan Shanmugasundram reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: ; Publications: 35856171, 25533962, 27453576; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCKDHB | Achchuthan Shanmugasundram reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MAPLE SYRUP URINE DISEASE, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCKDHA | Achchuthan Shanmugasundram reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1847055, 2010537, 1990841, 11509994, 9582350, 2703538, 18378174, 14742428, 9621512, 8430702, 7883996, 14508502, 2022752; Phenotypes: MAPLE SYRUP URINE DISEASE, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCAS3 | Achchuthan Shanmugasundram reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34022130; Phenotypes: BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCAP31 | Achchuthan Shanmugasundram reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 28332767, 24011989; Phenotypes: DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS9 | Achchuthan Shanmugasundram reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380913, 22353939; Phenotypes: BARDET-BIEDL SYNDROME TYPE 9, OMIM:615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS7 | Achchuthan Shanmugasundram reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: 12567324; Phenotypes: BARDET-BIEDL SYNDROME TYPE 7, OMIM:615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS5 | Achchuthan Shanmugasundram reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203199, 15137946; Phenotypes: BARDET-BIEDL SYNDROME TYPE 5, OMIM:615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS4 | Achchuthan Shanmugasundram reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11381270, 12016587; Phenotypes: BARDET-BIEDL SYNDROME TYPE 4, OMIM:615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS2 | Achchuthan Shanmugasundram reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20618352, 11567139, 16823392, 11285252; Phenotypes: BARDET-BIEDL SYNDROME TYPE 2, OMIM:615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS12 | Achchuthan Shanmugasundram reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: 19797195, 26082521, 17160889, 20827784; Phenotypes: BARDET-BIEDL SYNDROME TYPE 12, OMIM:615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS10 | Achchuthan Shanmugasundram reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: 26762677, 20805367, 16582908; Phenotypes: BARDET-BIEDL SYNDROME TYPE 10, OMIM:615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS1 | Achchuthan Shanmugasundram reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143442, 12524598, 10577922, 10577921, 20177705, 12118255, 12837689; Phenotypes: BARDET-BIEDL SYNDROME TYPE 1, OMIM:209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BAZ2B | Achchuthan Shanmugasundram reviewed gene: BAZ2B: Rating: RED; Mode of pathogenicity: ; Publications: 31999386; Phenotypes: BAZ2B-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BAP1 | Achchuthan Shanmugasundram reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35051358; Phenotypes: BAP1-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BANF1 | Achchuthan Shanmugasundram reviewed gene: BANF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21549337; Phenotypes: NESTOR-GUILLERMO PROGERIA SYNDROME, OMIM:614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B9D1 | Achchuthan Shanmugasundram reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21493627; Phenotypes: MECKEL SYNDROME 9, OMIM:614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B4GALT7 | Achchuthan Shanmugasundram reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 3631078, 15211654; Phenotypes: EHLERS-DANLOS SYNDROME PROGEROID TYPE, OMIM:130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B4GALT1 | Achchuthan Shanmugasundram reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32157688, 21920538, 11901181; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B3GAT3 | Achchuthan Shanmugasundram reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: Other; Publications: 31438591; Phenotypes: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS, OMIM:245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B3GALT6 | Achchuthan Shanmugasundram reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23664117; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1, OMIM:271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B3GALNT2 | Achchuthan Shanmugasundram reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29791932, 23453667; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11, OMIM:615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AXIN1 | Achchuthan Shanmugasundram reviewed gene: AXIN1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: CAUDAL DUPLICATION ANOMALY, OMIM:607864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AUTS2 | Achchuthan Shanmugasundram reviewed gene: AUTS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26545289, 23650183, 25205402, 23332918, 31788251, 27531620, 27075013, 24459036; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AUH | Achchuthan Shanmugasundram reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: ; Publications: 6181239, 20855850, 15033206, 10070612, 12434311; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA TYPE 1, OMIM:250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATRX | Achchuthan Shanmugasundram reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222662, 10995512, 9244431, 7697714, 10632111, 15565397, 10751095, 9043863, 9598720, 8644709, 6711605, 12116232, 6682021; Phenotypes: ALPHA-THALASSEMIA INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME X-LINKED NON-DELETION TYPE, OMIM:301040; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATR | Achchuthan Shanmugasundram reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SECKEL SYNDROME TYPE 1, OMIM:210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP9A | Achchuthan Shanmugasundram reviewed gene: ATP9A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34379057, 34764295; Phenotypes: ATP9A-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP8B1 | Achchuthan Shanmugasundram reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 5762004, 11093741, 15317749, 9500542; Phenotypes: ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS, OMIM:211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP8A2 | Achchuthan Shanmugasundram reviewed gene: ATP8A2: Rating: RED; Mode of pathogenicity: Other; Publications: 16075202, 22892528; Phenotypes: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 4, OMIM:615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP7A | Achchuthan Shanmugasundram reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 8149649, 11431706, 15372525, 19194885, 9246006, 17108763, 20170900, 10739752, 14635105, 9894833, 12221109, 19153371, 7842019, 8812725; Phenotypes: MENKES DISEASE, OMIM:309400, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, OMIM:300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1E1 | Achchuthan Shanmugasundram reviewed gene: ATP6V1E1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28065471; Phenotypes: Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1B2 | Achchuthan Shanmugasundram reviewed gene: ATP6V1B2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25915598; Phenotypes: ZIMMERMANN-LABAND SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1B1 | Achchuthan Shanmugasundram reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12566520, 18798332, 9916796; Phenotypes: DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS, OMIM:267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1A | Achchuthan Shanmugasundram reviewed gene: ATP6V1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28065471, 29668857, 32045939; Phenotypes: Autosomal Recessive Cutis Laxa, EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3, OMIM:618012; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V0C | Achchuthan Shanmugasundram reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074901, 33190975, 24623842, 28135719; Phenotypes: ATP6V0C-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V0A1 | Achchuthan Shanmugasundram reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 28135719, 30842224; Phenotypes: ATP6V0A1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6AP2 | Achchuthan Shanmugasundram reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH EPILEPSY, OMIM:300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP5D | Achchuthan Shanmugasundram reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29478781; Phenotypes: ATP5F1D metabolic disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP5A1 | Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34483339, 23599390, 23596069; Phenotypes: ATP5F1A-related mitochondrial encephalopathy, OMIM:615228, ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP2B1 | Achchuthan Shanmugasundram reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35358416; Phenotypes: ATP2B1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP1A3 | Achchuthan Shanmugasundram reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33880529, 22842232; Phenotypes: ALTERNATING HEMIPLEGIA OF CHILDHOOD, OMIM:104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP1A2 | Achchuthan Shanmugasundram reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31608932, 20837964, 17435187, 30690204, 33880529, 33493807; Phenotypes: ATP1A2-related epileptic encephalopathy, MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related, Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP1A1 | Achchuthan Shanmugasundram reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30388404; Phenotypes: Renal Hypomagnesemia Refractory Seizures and Intellectual Disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP13A2 | Achchuthan Shanmugasundram reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PARKINSON DISEASE 9, OMIM:606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATOH7 | Achchuthan Shanmugasundram reviewed gene: ATOH7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC, OMIM:221900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATN1 | Achchuthan Shanmugasundram reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30827498; Phenotypes: congenital hypotonia, epilepsy, developmental delay, digit abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATM | Achchuthan Shanmugasundram reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 8755918, 9887333, 8968760, 11826028, 8808599, 9450874, 9600235, 7792600, 22345219, 11889466, 2491181, 9521587, 9443866, 9781027; Phenotypes: ATAXIA-TELANGIECTASIA, OMIM:208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATL1 | Achchuthan Shanmugasundram reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35925862; Phenotypes: ATL1-associated hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATIC | Achchuthan Shanmugasundram reviewed gene: ATIC: Rating: GREEN; Mode of pathogenicity: ; Publications: 15114530; Phenotypes: AICA-RIBOSURIA, OMIM:608688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATG7 | Achchuthan Shanmugasundram reviewed gene: ATG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 34161705; Phenotypes: ATG7-related intellectual disability and ataxia, OMIM:619422; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATG4D | Achchuthan Shanmugasundram reviewed gene: ATG4D: Rating: RED; Mode of pathogenicity: Other; Publications: 36765070; Phenotypes: ATG4D-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATAD3A | Achchuthan Shanmugasundram reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004445, 27640307; Phenotypes: ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy, ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASXL3 | Achchuthan Shanmugasundram reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29316359, 24044690, 29367179, 31180560, 27075689, 27901041, 29305346, 28955728, 23383720, 32240826, 28100473, 31638014, 29445472; Phenotypes: BAINBRIDGE-ROPERS SYNDROME, OMIM:615485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASXL2 | Achchuthan Shanmugasundram reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28061364; Phenotypes: Developmental delay, macrocephaly, and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASXL1 | Achchuthan Shanmugasundram reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22419483, 21706002; Phenotypes: BOHRING-OPITZ SYNDROME, OMIM:605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASS1 | Achchuthan Shanmugasundram reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CITRULLINEMIA TYPE I, OMIM:215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASPM | Achchuthan Shanmugasundram reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: ; Publications: 12355089; Phenotypes: PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY, OMIM:279936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASPH | Achchuthan Shanmugasundram reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 24768550; Phenotypes: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS, OMIM:601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASPA | Achchuthan Shanmugasundram reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8088831, 8659549, 12638939, 7668285, 7599639, 8252036, 10564886, 10909858, 8023850, 16437572; Phenotypes: CANAVAN DISEASE, OMIM:271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASNS | Achchuthan Shanmugasundram reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 24139043, 27743885, 32255274, 28776279, 27268761, 31720226, 30978478, 27522229, 25227173, 27469131, 29375865, 29279279, 31123592, 32481472, 25663424, 30057589, 27422383; Phenotypes: Asparagine synthetase deficiency, OMIM:615574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASL | Achchuthan Shanmugasundram reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: ; Publications: 12384776, 12408190, 2263616; Phenotypes: ARGININOSUCCINATE LYASE DEFICIENCY, OMIM:207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASH1L | Achchuthan Shanmugasundram reviewed gene: ASH1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29276005, 29753921, 25961944, 28394464; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASCL1 | Achchuthan Shanmugasundram reviewed gene: ASCL1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASCC3 | Achchuthan Shanmugasundram reviewed gene: ASCC3: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASCC1 | Achchuthan Shanmugasundram reviewed gene: ASCC1: Rating: RED; Mode of pathogenicity: ; Publications: 35838082, 26924529; Phenotypes: Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASAH1 | Achchuthan Shanmugasundram reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22703880, 8955159, 11241842, 10610716, 16951918; Phenotypes: SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY, OMIM:159950, FARBER LIPOGRANULOMATOSIS, OMIM:228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARX | Achchuthan Shanmugasundram reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: ; Publications: 12379852, 21108397, 19606478, 18462864, 19738637, 14722918, 10353782, 12177367, 17668384, 1605226, 11891829, 21204226, 11971879, 11889467; Phenotypes: PARTINGTON SYNDROME, OMIM:309510, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED ARX-RELATED, OMIM:300419; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARSE | Achchuthan Shanmugasundram reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 7720070, 12567415, 9409863; Phenotypes: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED, OMIM:302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARSB | Achchuthan Shanmugasundram reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: 1550123, 17643332, 8723688, 1301949, 1718978, 8651289; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 6, OMIM:253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARSA | Achchuthan Shanmugasundram reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1670590, 7906588, 8104633, 8101038, 9600244, 11941485, 11456299, 7833949, 7909527, 7858169, 1678251, 7815433, 1353340, 1673291, 12788103, 2574462, 11061266, 8101083, 7902317, 7866401, 1676699, 7981715, 1684088; Phenotypes: ARYLSULFATASE A DEFICIENCY, OMIM:250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARPC4 | Achchuthan Shanmugasundram reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35047857; Phenotypes: ARPC4-related microcephaly and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARNT2 | Achchuthan Shanmugasundram reviewed gene: ARNT2: Rating: RED; Mode of pathogenicity: ; Publications: 24022475; Phenotypes: ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARMC9 | Achchuthan Shanmugasundram reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 28625504; Phenotypes: Joubert syndrome 30, OMIM:617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARMC4 | Achchuthan Shanmugasundram reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849778; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 23, OMIM:615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL6 | Achchuthan Shanmugasundram reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12016587, 11381270, 16582908, 15137946, 12118255, 19956407, 21937992, 20805367, 15314642, 12567324, 22353939, 15258860, 20618352, 16380913, 11567139, 7711739, 16308660, 16606853, 18327255, 10973251, 12837689, 18203199, 8298649, 17160889, 14520415, 9714014, 12524598, 10973238, 20671153, 7987310; Phenotypes: BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, RETINITIS PIGMENTOSA TYPE 55, OMIM:613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL3 | Achchuthan Shanmugasundram reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30269812; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL14EP | Achchuthan Shanmugasundram reviewed gene: ARL14EP: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARID2 | Achchuthan Shanmugasundram reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36756859, 28124119; Phenotypes: ARID2-Coffin-Siris like disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARID1B | Achchuthan Shanmugasundram reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30349098, 22405089, 22426308, 22426309; Phenotypes: COFFIN SIRIS SYNDROME, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARID1A | Achchuthan Shanmugasundram reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COFFIN-SIRIS SYNDROME, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGEF9 | Achchuthan Shanmugasundram reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: ; Publications: 21633362, 28589176; Phenotypes: ARHGEF9-related developmental disorder (X-linked dominant); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGEF6 | Achchuthan Shanmugasundram reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 46, OMIM:300436; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGAP35 | Achchuthan Shanmugasundram reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 28641477; Phenotypes: ARHGAP35-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGAP31 | Achchuthan Shanmugasundram reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 16451141, 474617; Phenotypes: ADAMS-OLIVER SYNDROME 1, OMIM:100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARG1 | Achchuthan Shanmugasundram reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1463019, 1598908, 2365823, 10502833, 7649538; Phenotypes: ARGININEMIA, OMIM:207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARFGEF2 | Achchuthan Shanmugasundram reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14647276; Phenotypes: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OMIM:608097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARFGEF1 | Achchuthan Shanmugasundram reviewed gene: ARFGEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34113008; Phenotypes: ARFGEF1-related intellectual disability and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARF3 | Achchuthan Shanmugasundram reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36369169; Phenotypes: ARF3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARF1 | Achchuthan Shanmugasundram reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 28868155, 34353862; Phenotypes: PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARCN1 | Achchuthan Shanmugasundram reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476655; Phenotypes: Microcephalic dwarfism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AR | Achchuthan Shanmugasundram reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200, ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | APTX | Achchuthan Shanmugasundram reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: 15852392, 11586300, 12196655, 11586299, 15365154; Phenotypes: ATAXIA WITH OCULOMOTOR APRAXIA 1, OMIM:208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | APOPT1 | Achchuthan Shanmugasundram reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25175347, 27588451; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | APC2 | Achchuthan Shanmugasundram reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585108; Phenotypes: Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP4S1 | Achchuthan Shanmugasundram reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21620353; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6, OMIM:614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP4M1 | Achchuthan Shanmugasundram reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19559397; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3, OMIM:612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP4E1 | Achchuthan Shanmugasundram reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20972249; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4, OMIM:613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP4B1 | Achchuthan Shanmugasundram reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22290197, 21620353; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5, OMIM:614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP3B2 | Achchuthan Shanmugasundram reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889060; Phenotypes: Epileptic Encephalopathy with Optic Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP2S1 | Achchuthan Shanmugasundram reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: AP2S1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP2M1 | Achchuthan Shanmugasundram reviewed gene: AP2M1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31104773; Phenotypes: Developmental and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP1S2 | Achchuthan Shanmugasundram reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17617514, 17186471, 12599187, 5054319, 10398241; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 59, OMIM:300630; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP1G1 | Achchuthan Shanmugasundram reviewed gene: AP1G1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34102099; Phenotypes: AP1G1-related intellectual disability, biallelic, AP1G1-related intellectual disability and epilepsy, monoallelic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP1B1 | Achchuthan Shanmugasundram reviewed gene: AP1B1: Rating: RED; Mode of pathogenicity: ; Publications: 31630791, 31630788; Phenotypes: MEDNIK-like Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANTXR1 | Achchuthan Shanmugasundram reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23602711; Phenotypes: GAPO SYNDROME, OMIM:230740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANO5 | Achchuthan Shanmugasundram reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307, GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANO1 | Achchuthan Shanmugasundram reviewed gene: ANO1: Rating: RED; Mode of pathogenicity: ; Publications: 32487539; Phenotypes: ANO1-associated intestinal disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANKRD26 | Achchuthan Shanmugasundram reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10521306, 21211618; Phenotypes: THROMBOCYTOPENIA 2, OMIM:188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANKRD17 | Achchuthan Shanmugasundram reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: ; Publications: 33909992; Phenotypes: ANKRD17-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANKRD11 | Achchuthan Shanmugasundram reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23494856, 25464108, 30877071, 25838844, 28449295, 23184435, 29224748, 30088855, 25652421, 21782149, 28250421, 27900361, 27667800; Phenotypes: KBG SYNDROME, OMIM:148050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANKH | Achchuthan Shanmugasundram reviewed gene: ANKH: Rating: GREEN; Mode of pathogenicity: ; Publications: 9915952, 12297989, 2712793, 13130483, 14322785, 8528213, 11326272, 8244341, 12297987, 20358596; Phenotypes: CHONDROCALCINOSIS 2, OMIM:118600, CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE, OMIM:123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANK2 | Achchuthan Shanmugasundram reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: 25356970, 30755392, 22542183, 28191889; Phenotypes: ANK2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANAPC1 | Achchuthan Shanmugasundram reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31303264; Phenotypes: Rothmund-Thomson Syndrome Type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMT | Achchuthan Shanmugasundram reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLYCINE ENCEPHALOPATHY, OMIM:605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMPD2 | Achchuthan Shanmugasundram reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23911318; Phenotypes: PONTOCEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMOTL1 | Achchuthan Shanmugasundram reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36751037; Phenotypes: AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMER1 | Achchuthan Shanmugasundram reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19079258; Phenotypes: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, OMIM:300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALX4 | Achchuthan Shanmugasundram reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRONTONASAL DYSPLASIA 2, OMIM:613451, PARIETAL FORAMINA 2, OMIM:609597; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALX3 | Achchuthan Shanmugasundram reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19409524; Phenotypes: FRONTONASAL DYSPLASIA TYPE 1, OMIM:136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALX1 | Achchuthan Shanmugasundram reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451171, 27324866; Phenotypes: FRONTONASAL DYSPLASIA TYPE 3, OMIM:613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALS2 | Achchuthan Shanmugasundram reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11586297; Phenotypes: ALS2-RELATED DISORDERS, OMIM:240656; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALPL | Achchuthan Shanmugasundram reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 3174660; Phenotypes: HYPOPHOSPHATASIA, OMIM:241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALMS1 | Achchuthan Shanmugasundram reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11941369, 22043170, 9063741, 17850632, 21877133, 17594715, 11941370; Phenotypes: ALSTROM SYNDROME, OMIM:203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALKBH8 | Achchuthan Shanmugasundram reviewed gene: ALKBH8: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079898, 33544954, 34757492; Phenotypes: ALKBH8-related intellectual disability, microcephaly and seizures, OMIM:618504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG9 | Achchuthan Shanmugasundram reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG9-CDG, OMIM:300153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG8 | Achchuthan Shanmugasundram reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG8-CDG, OMIM:237145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG6 | Achchuthan Shanmugasundram reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG6-CDG, OMIM:237124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG3 | Achchuthan Shanmugasundram reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG3-CDG, OMIM:237128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG2 | Achchuthan Shanmugasundram reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG2-CDG, OMIM:237149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG13 | Achchuthan Shanmugasundram reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22492991, 23934111, 28887793; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS, OMIM:300884; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG12 | Achchuthan Shanmugasundram reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: ; Publications: 11983712, 12217961, 12093361; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G, OMIM:607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG11 | Achchuthan Shanmugasundram reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG11-CDG, OMIM:319490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG1 | Achchuthan Shanmugasundram reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALG1-CDG, OMIM:300141; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDOA | Achchuthan Shanmugasundram reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 2825199, 8598869; Phenotypes: GLYCOGEN STORAGE DISEASE XII, OMIM:611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH7A1 | Achchuthan Shanmugasundram reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17068770, 16491085, 17721876; Phenotypes: PYRIDOXINE-DEPENDENT EPILEPSY, OMIM:266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH5A1 | Achchuthan Shanmugasundram reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14635103, 9683595, 16542398; Phenotypes: SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, OMIM:271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH4A1 | Achchuthan Shanmugasundram reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9700195; Phenotypes: HYPERPROLINEMIA TYPE 2, OMIM:239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH3A2 | Achchuthan Shanmugasundram reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9250352, 10577908, 10792573, 8528251, 9254849; Phenotypes: sjogren-larsson syndrome, OMIM:270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH1A3 | Achchuthan Shanmugasundram reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24568872, 23312594, 26873617, 23646827, 24024553, 24777706, 23591992; Phenotypes: ANOPHTHALMIA/MICROPHTHALMIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH1A2 | Achchuthan Shanmugasundram reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33565183; Phenotypes: ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH18A1 | Achchuthan Shanmugasundram reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26829900, 26297557, 26297558, 26320891, 28228640, 26026163; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES, OMIM:612652, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, OMIM:601162, CUTIS LAXA, AUTOSOMAL DOMINANT 3, OMIM:616603; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALAD | Achchuthan Shanmugasundram reviewed gene: ALAD: Rating: RED; Mode of pathogenicity: Other; Publications: 2063868; Phenotypes: ACUTE HEPATIC PORPHYRIA, OMIM:612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AKT3 | Achchuthan Shanmugasundram reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22500628, 22729224; Phenotypes: HEMIMEGALENCEPHALY AKT3, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AKT2 | Achchuthan Shanmugasundram reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28541532, 26003998, 24285683, 21979934; Phenotypes: AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AKT1 | Achchuthan Shanmugasundram reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22876373, 21793738; Phenotypes: PROTEUS SYNDROME, OMIM:176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AKR1D1 | Achchuthan Shanmugasundram reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12970144; Phenotypes: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, OMIM:235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AK2 | Achchuthan Shanmugasundram reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19043417, 19043416; Phenotypes: RETICULAR DYSGENESIS, OMIM:267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AIRE | Achchuthan Shanmugasundram reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398839, 12050215, 16965330, 9398840, 9837820; Phenotypes: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1, OMIM:240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AIPL1 | Achchuthan Shanmugasundram reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10615133, 26650897, 10873396; Phenotypes: LEBER CONGENITAL AMAUROSIS 4, OMIM:604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AIMP1 | Achchuthan Shanmugasundram reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21092922; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 3, OMIM:260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AIFM1 | Achchuthan Shanmugasundram reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23217327, 20362274; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, OMIM:300816; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AHI1 | Achchuthan Shanmugasundram reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25616960, 16453322, 16155189, 15467982, 25356976, 28442542, 16240161; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AHDC1 | Achchuthan Shanmugasundram reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31182893, 27148574, 30622101, 30729726, 30152016, 29230160, 30858058, 24791903, 29696776, 35596688, 32256298, 31812316; Phenotypes: XIA-GIBBS SYNDROME, OMIM:615829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGXT | Achchuthan Shanmugasundram reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: 8101040; Phenotypes: HYPEROXALURIA, PRIMARY, TYPE 1, OMIM:259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGTPBP1 | Achchuthan Shanmugasundram reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30420557, 30976113, 31102495, 28600779; Phenotypes: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGPS | Achchuthan Shanmugasundram reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11152660, 7807941; Phenotypes: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3, OMIM:600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGO1 | Achchuthan Shanmugasundram reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35060114; Phenotypes: AGO1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGL | Achchuthan Shanmugasundram reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 8702417, 19834502, 9412782, 8990006, 11378828, 10571954, 8755644, 10925384, 10655153, 9490286; Phenotypes: GLYCOGEN STORAGE DISEASE TYPE III, OMIM:232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGK | Achchuthan Shanmugasundram reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 22415731, 22284826, 22277967, 26622071, 3560758, 25208612, 15168109, 23266196; Phenotypes: SENGERS SYNDROME, OMIM:212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGA | Achchuthan Shanmugasundram reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1765378, 8776587, 6883788; Phenotypes: ASPARTYLGLUCOSAMINURIA, OMIM:208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AFG3L2 | Achchuthan Shanmugasundram reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: ; Publications: 28449981, 22022284, 31111429, 32248051, 32237276; Phenotypes: AFG3L2-related ataxia and seizures, OMIM:614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AFF4 | Achchuthan Shanmugasundram reviewed gene: AFF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25730767; Phenotypes: CORNELIA DE LANGE-LIKE SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AFF3 | Achchuthan Shanmugasundram reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36576140, 33961779; Phenotypes: Skeletal dysplasia with severe neurological disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AFF2 | Achchuthan Shanmugasundram reviewed gene: AFF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8334699, 21739600; Phenotypes: FRAGILE X-E INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADSL | Achchuthan Shanmugasundram reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12016589, 18830228, 6150139, 9545543, 10090474; Phenotypes: ADENYLOSUCCINASE DEFICIENCY, OMIM:103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADRA2B | Achchuthan Shanmugasundram reviewed gene: ADRA2B: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADPRHL2 | Achchuthan Shanmugasundram reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30401461, 30388405; Phenotypes: Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADNP | Achchuthan Shanmugasundram reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: ; Publications: 28475273, 29475819, 30107084, 32275126, 25169753, 28221363, 29724491, 31127536, 27031564, 24531329, 28407407; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT, 28, OMIM:615873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADK | Achchuthan Shanmugasundram reviewed gene: ADK: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADGRG6 | Achchuthan Shanmugasundram reviewed gene: ADGRG6: Rating: GREEN; Mode of pathogenicity: ; Publications: 26004201; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 9, OMIM:616503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADGRG1 | Achchuthan Shanmugasundram reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15044805; Phenotypes: POLYMICROGYRIA, OMIM:606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADCY5 | Achchuthan Shanmugasundram reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ADCY5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADARB1 | Achchuthan Shanmugasundram reviewed gene: ADARB1: Rating: RED; Mode of pathogenicity: Other; Publications: 32220291; Phenotypes: ADARB1-associated Microcephaly, Intellectual Disability, and Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAR | Achchuthan Shanmugasundram reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 16935814, 23001123, 17478391, 24262145, 16817193, 12916015; Phenotypes: AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE, OMIM:615010, AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE BIALLELIC, OMIM:615010, DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1, OMIM:127400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTSL2 | Achchuthan Shanmugasundram reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18677313, 21415077; Phenotypes: GELEOPHYSIC DYSPLASIA 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTS9 | Achchuthan Shanmugasundram reviewed gene: ADAMTS9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30609407; Phenotypes: Nephronophthisis Related Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTS18 | Achchuthan Shanmugasundram reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: 24874986, 23818446, 22686506; Phenotypes: Microcornea, myopic chorioretinal atrophy, and telecanthus, OMIM:615458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAM22 | Achchuthan Shanmugasundram reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: ; Publications: 35373813; Phenotypes: ADAM22-associated developmental and epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADA | Achchuthan Shanmugasundram reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8227344, 9225964, 46025, 21228398, 3684597, 3475710, 2783588, 9361033, 8673127, 11807006, 980079, 3839802, 8614422, 2166947, 1680289, 8031011, 3182793; Phenotypes: ADENOSINE DEAMINASE DEFICIENCY, OMIM:102700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACY1 | Achchuthan Shanmugasundram reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17562838, 16465618, 16274666; Phenotypes: AMINOACYLASE-1 DEFICIENCY, OMIM:609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACVR2B | Achchuthan Shanmugasundram reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACVR1 | Achchuthan Shanmugasundram reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16642017, 18830232, 19085907, 18203193, 19330033; Phenotypes: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, OMIM:135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTL6B | Achchuthan Shanmugasundram reviewed gene: ACTL6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28867141, 30656450, 31031012; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS, OMIM:618470, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTG1 | Achchuthan Shanmugasundram reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: BARAITSER-WINTER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTB | Achchuthan Shanmugasundram reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29220674, 22366783, 27625340; Phenotypes: ACTB Haploinsufficiency syndtome, BARAITSER-WINTER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTA2 | Achchuthan Shanmugasundram reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35567597; Phenotypes: MOYAMOYA DISEASE 5, OMIM:614042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTA1 | Achchuthan Shanmugasundram reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10508519; Phenotypes: NEMALINE MYOPATHY 3, OMIM:161800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACSL4 | Achchuthan Shanmugasundram reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12525535, 11889465; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 63, OMIM:300387; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACP5 | Achchuthan Shanmugasundram reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 21217755, 16470600, 21217752, 12786759, 13524805; Phenotypes: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, OMIM:607944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACOX1 | Achchuthan Shanmugasundram reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17458872, 2894756, 8279468, 18536048, 11815777; Phenotypes: ADRENOLEUKODYSTROPHY PSEUDONEONATAL, OMIM:264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACO2 | Achchuthan Shanmugasundram reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28545339, 29577077, 29564393, 22405087, 31106992; Phenotypes: INFANTILE CEREBELLAR-RETINAL DEGENERATION, OMIM:614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACER3 | Achchuthan Shanmugasundram reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26792856, 34281620, 32816236; Phenotypes: ACER3-related leukodystrophy, OMIM:617762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACBD6 | Achchuthan Shanmugasundram reviewed gene: ACBD6: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACBD5 | Achchuthan Shanmugasundram reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23105016, 27799409, 33427402; Phenotypes: ACBD5 deficiency, OMIM:618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACAT1 | Achchuthan Shanmugasundram reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7907600, 4690360, 1715688, 1627655, 9700610, 1346617, 11914035, 1979337; Phenotypes: ALPHA-METHYLACETOACETIC ACIDURIA, OMIM:203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACAN | Achchuthan Shanmugasundram reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE, OMIM:612813, SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY, OMIM:608361; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACADVL | Achchuthan Shanmugasundram reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: ; Publications: 8554073, 9546340, 9709714, 7668252, 11158518, 7479827, 10790204; Phenotypes: VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY, OMIM:201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACADS | Achchuthan Shanmugasundram reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 2808706; Phenotypes: SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, OMIM:201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACADM | Achchuthan Shanmugasundram reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: ; Publications: 7929823, 1684086, 6434827, 1972503, 7603790, 11409868, 11349232, 9158144; Phenotypes: MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY, OMIM:201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACAD9 | Achchuthan Shanmugasundram reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: ; Publications: 21057504, 17564966; Phenotypes: ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY, OMIM:611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABL1 | Achchuthan Shanmugasundram reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28288113; Phenotypes: Congenital heart defects and skeletal malformations, OMIM:617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABHD5 | Achchuthan Shanmugasundram reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11590543; Phenotypes: CHANARIN-DORFMAN SYNDROME, OMIM:275630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABHD16A | Achchuthan Shanmugasundram reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34587489; Phenotypes: ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCD4 | Achchuthan Shanmugasundram reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22922874; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, OMIM:614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCD1 | Achchuthan Shanmugasundram reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7904210, 8441467, 11748843; Phenotypes: ADRENOLEUKODYSTROPHY, X-LINKED, OMIM:300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCC9 | Achchuthan Shanmugasundram reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, OMIM:239850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCC6 | Achchuthan Shanmugasundram reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 10835642, 22209248, 10811882, 10835643; Phenotypes: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, OMIM:614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCB7 | Achchuthan Shanmugasundram reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ANEMIA, SIDEROBLASTIC, WITH ATAXIA, OMIM:301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCB6 | Achchuthan Shanmugasundram reviewed gene: ABCB6: Rating: RED; Mode of pathogenicity: Other; Publications: 22226084; Phenotypes: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, OMIM:614497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCB11 | Achchuthan Shanmugasundram reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 16039748, 9806540, 10579978; Phenotypes: ABCB11-RELATED INTRAHEPATIC CHOLESTASIS, OMIM:601847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABAT | Achchuthan Shanmugasundram reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 28411234, 27903293, 27376954; Phenotypes: ABAT-related GABA-transaminase Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AASS | Achchuthan Shanmugasundram reviewed gene: AASS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23570448, 10775527, 934735; Phenotypes: HYPERLYSINEMIA, OMIM:238700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AARS | Achchuthan Shanmugasundram reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817015, 34446925; Phenotypes: EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AAAS | Achchuthan Shanmugasundram reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 11701718, 11062474, 15173230, 11159947, 18628786; Phenotypes: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, OMIM:231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NR5A1 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to NR5A1. Rating Changed from Green List (high evidence) to No List (delete) |
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| DDG2P v3.11 | NLRP5 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to NLRP5. Rating Changed from Red List (low evidence) to No List (delete) |
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| DDG2P v3.11 | MTMR14 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to MTMR14. Rating Changed from Red List (low evidence) to No List (delete) |
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| DDG2P v3.11 | LGI1 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to LGI1. Rating Changed from Red List (low evidence) to No List (delete) |
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| DDG2P v3.11 | FBXO25 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to FBXO25. Rating Changed from Red List (low evidence) to No List (delete) |
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| DDG2P v3.11 | BPIFB6 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to BPIFB6. Rating Changed from Red List (low evidence) to No List (delete) |
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| DDG2P v3.11 | ALDOB |
Achchuthan Shanmugasundram Source Expert Review Removed was added to ALDOB. Rating Changed from Green List (high evidence) to No List (delete) |
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| DDG2P v3.11 | AGTR2 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to AGTR2. Rating Changed from Red List (low evidence) to No List (delete) |
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| DDG2P v3.11 | ZSWIM6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZSWIM6. Mode of pathogenicity for gene ZSWIM6 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ZNF750 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF750. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ZNF713 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZNF713 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZNF599 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZNF599 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZNF526 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZNF526 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZNF462 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF462. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ZNF407 |
Achchuthan Shanmugasundram gene: ZNF407 was added gene: ZNF407 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ZNF407 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF407 were set to 24907849; 32737394 Phenotypes for gene: ZNF407 were set to ZNF407-related Neurodevelopmental Disorder Mode of pathogenicity for gene: ZNF407 was set to Other |
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| DDG2P v3.11 | ZNF292 |
Achchuthan Shanmugasundram gene: ZNF292 was added gene: ZNF292 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF292 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF292 were set to ZNF292-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | ZNF148 |
Achchuthan Shanmugasundram gene: ZNF148 was added gene: ZNF148 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF148 were set to ZNF148-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | ZNF142 |
Achchuthan Shanmugasundram gene: ZNF142 was added gene: ZNF142 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF142 were set to 31036918; 35616059 Phenotypes for gene: ZNF142 were set to ZNF142-related neurodevelopmental disorder, OMIM:618425 |
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| DDG2P v3.11 | ZMYND8 |
Achchuthan Shanmugasundram gene: ZMYND8 was added gene: ZMYND8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZMYND8 were set to 35916866 Phenotypes for gene: ZMYND8 were set to ZMYND8-related neurodevelopmental disorder Mode of pathogenicity for gene: ZMYND8 was set to Other |
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| DDG2P v3.11 | ZMYND11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZMYND11. Publications for gene: ZMYND11 were updated from 25217958; 25281490; 27626064 to 27626064; 25281490; 25217958 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ZMYND10 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZMYND10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ZMYM3 |
Achchuthan Shanmugasundram gene: ZMYM3 was added gene: ZMYM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZMYM3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZMYM3 were set to 36586412 Phenotypes for gene: ZMYM3 were set to ZMYM3-related neurodevelopmental disorder |
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| DDG2P v3.11 | ZMYM2 |
Achchuthan Shanmugasundram gene: ZMYM2 was added gene: ZMYM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZMYM2 were set to 32891193 Phenotypes for gene: ZMYM2 were set to ZMYM2-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | ZMIZ1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZMIZ1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ZIC2 | Achchuthan Shanmugasundram Publications for gene: ZIC2 were updated from 11479728; 21638761; 9771712 to 9771712; 11479728; 21638761 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZIC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZIC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZFYVE26 | Achchuthan Shanmugasundram Publications for gene: ZFYVE26 were updated from 11342696; 19805727; 18098276; 17661097 to 18098276; 11342696; 19805727; 17661097 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZFYVE19 |
Achchuthan Shanmugasundram gene: ZFYVE19 was added gene: ZFYVE19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFYVE19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE19 were set to 32737136; 33853651 Phenotypes for gene: ZFYVE19 were set to ZFYVE19-related congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis |
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| DDG2P v3.11 | ZFPM2 | Achchuthan Shanmugasundram Publications for gene: ZFPM2 were updated from 16103912 to 16103912; 24549039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZFHX4 |
Achchuthan Shanmugasundram gene: ZFHX4 was added gene: ZFHX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFHX4 were set to 11935336; 33057194 Phenotypes for gene: ZFHX4 were set to ZFHX4-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | ZFHX3 |
Achchuthan Shanmugasundram gene: ZFHX3 was added gene: ZFHX3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFHX3 were set to 32502225; 30809043 Phenotypes for gene: ZFHX3 were set to ZFHX3-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | ZEB2 | Achchuthan Shanmugasundram Publications for gene: ZEB2 were updated from 16532472; 11891681; 11279515; 12451214; 11595972; 9719364; 12920073; 16088920; 11592033; 16688751 to 11595972; 16532472; 9719364; 16688751; 11891681; 11592033; 12920073; 12451214; 16088920; 11279515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZDHHC9 | Achchuthan Shanmugasundram Publications for gene: ZDHHC9 were updated from 17436253; 26000327 to 26000327; 17436253 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZC4H2 | Achchuthan Shanmugasundram Publications for gene: ZC4H2 were updated from 4039531; 1915520; 23623388 to 4039531; 1915520; 31206972; 36250278; 23623388 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZBTB7A |
Achchuthan Shanmugasundram gene: ZBTB7A was added gene: ZBTB7A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZBTB7A were set to 31645653; 34515416 Phenotypes for gene: ZBTB7A were set to ZBTB7A-associated developmental disorder |
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| DDG2P v3.11 | ZBTB20 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZBTB20 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ZBTB16 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZBTB16 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | YY1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene YY1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | YWHAG |
Achchuthan Shanmugasundram Source Expert Review Green was added to YWHAG. Mode of pathogenicity for gene YWHAG was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | YRDC |
Achchuthan Shanmugasundram gene: YRDC was added gene: YRDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YRDC were set to 31481669; 34545459 Phenotypes for gene: YRDC were set to YRDC-associated nephrotic syndrome and microcephaly |
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| DDG2P v3.11 | YARS2 |
Achchuthan Shanmugasundram gene: YARS2 was added gene: YARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS2 were set to 23918765; 30026338; 20598274 Phenotypes for gene: YARS2 were set to MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561 |
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| DDG2P v3.11 | YAP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to YAP1. Publications for gene: YAP1 were updated from 24462371 to 24462371; 27267789 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | XYLT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to XYLT2. Publications for gene: XYLT2 were updated from 26027496 to 26987875; 28884924; 26027496; 29136277 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | XPNPEP3 |
Achchuthan Shanmugasundram Source Expert Review Red was added to XPNPEP3. Publications for gene: XPNPEP3 were updated from 20179356; 32660933 to 20179356; 32660933 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| DDG2P v3.11 | XPC | Achchuthan Shanmugasundram Publications for gene: XPC were updated from 14662655; 11121128; 9804340; 8298653; 19478817; 11511294 to 14662655; 8298653; 11511294; 19478817; 9804340; 11121128 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | XPA | Achchuthan Shanmugasundram Publications for gene: XPA were updated from 1339397; 1372102; 2234061; 16098033 to 16098033; 1339397; 2234061; 10767341; 1372102 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WWOX |
Achchuthan Shanmugasundram Source Expert Review Green was added to WWOX. Publications for gene: WWOX were updated from 24456803 to 24369382; 24456803 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | WT1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene WT1 was changed from Other - please provide details in the comments to Other Publications for gene: WT1 were updated from 1658787; 9499425; 10571943 to 8388765; 1302008; 10571943; 1327525; 9499425; 1658787; 1655284 |
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| DDG2P v3.11 | WRAP53 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WRAP53 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WNT7A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene WNT7A was changed from Other - please provide details in the comments to Other Publications for gene: WNT7A were updated from 16826533; 21271649; 21344627; 20949531 to 9128926; 20949531; 21344627; 21271649; 16826533 |
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| DDG2P v3.11 | WNT5A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene WNT5A was changed from Other - please provide details in the comments to Other Publications for gene: WNT5A were updated from 5771504; 19918918 to 19918918; 5771504 |
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| DDG2P v3.11 | WNT4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WNT4. Mode of pathogenicity for gene WNT4 was changed from Other - please provide details in the comments to Other Publications for gene: WNT4 were updated from 15317892 to 18179883; 15317892 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | WNT3 | Achchuthan Shanmugasundram Publications for gene: WNT3 were updated from to 14872406 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WNK3 |
Achchuthan Shanmugasundram gene: WNK3 was added gene: WNK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: WNK3 were set to 35678782 Phenotypes for gene: WNK3 were set to WNK3-related neurodevelopmental disorder |
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| DDG2P v3.11 | WFS1 |
Achchuthan Shanmugasundram gene: WFS1 was added gene: WFS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 21067485; 25390390; 17568405; 22311385; 22226368; 10521293; 23373429; 15605410; 18806274; 14724730; 21726277; 11295831; 15151504; 18544103; 16442662; 21823543; 21564155; 15503287; 11161832; 22781099; 19042979; 15277431; 16648378; 12107816; 21623591; 15070927; 22238590; 21446023; 19160074; 23103830; 21538838; 21968327; 21602428; 9771706; 12707373; 11317648; 16151413; 20069065; 18660851; 20875904; 16459465 Phenotypes for gene: WFS1 were set to Wolfram-like syndrome, autosomal dominant, OMIM:614296; WOLFRAM SYNDROME 1, OMIM:222300 |
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| DDG2P v3.11 | WDR81 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WDR81 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WDR73 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WDR73. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | WDR62 | Achchuthan Shanmugasundram Publications for gene: WDR62 were updated from 21834044; 10573015; 20890279; 20729831; 20890278 to 20890279; 20890278; 20729831; 21834044; 10573015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WDR5 |
Achchuthan Shanmugasundram gene: WDR5 was added gene: WDR5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDR5 were set to 36408368 Phenotypes for gene: WDR5 were set to WDR5-related neurodevelopmental disorder Mode of pathogenicity for gene: WDR5 was set to Other |
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| DDG2P v3.11 | WDR45B |
Achchuthan Shanmugasundram Source Expert Review Green was added to WDR45B. Publications for gene: WDR45B were updated from 21937992 to 28503735; 35322404; 21937992 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | WDR45 | Achchuthan Shanmugasundram Publications for gene: WDR45 were updated from 23176820 to 30612247; 28932395; 28371320; 30713886; 30539914; 23176820; 29981852; 26609730; 28551038; 31466010; 27030146; 26790960; 26240209; 28361255; 29171013; 29082105; 29681108; 29600274; 26022463; 27957548; 27681470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WDR37 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WDR37 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WDR35 | Achchuthan Shanmugasundram Publications for gene: WDR35 were updated from 21473986 to 21473986; 35875935; 20817137 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WDR34 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WDR34 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WDR19 | Achchuthan Shanmugasundram Publications for gene: WDR19 were updated from 19430947 to 19430947; 22019273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WDR11 |
Achchuthan Shanmugasundram Mode of inheritance for gene WDR11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR11 were updated from to 34413497 |
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| DDG2P v3.11 | WDFY3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WDFY3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | WASHC5 |
Achchuthan Shanmugasundram gene: WASHC5 was added gene: WASHC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WASHC5 were set to 24065355 Phenotypes for gene: WASHC5 were set to WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210 |
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| DDG2P v3.11 | WASF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WASF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | WARS |
Achchuthan Shanmugasundram gene: WARS was added gene: WARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WARS were set to 28369220; 31321409; 31069783; 35815345 Phenotypes for gene: WARS were set to WARS1-associated neurodevelopmental syndrome; Distal hereditary motor neuropathy |
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| DDG2P v3.11 | WAC | Achchuthan Shanmugasundram Publications for gene: WAC were updated from 26264232 to 26264232; 26757981; 35018708 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VRK1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to VRK1. Publications for gene: VRK1 were updated from 19646678; 21937992 to 21937992; 19646678 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | VPS4A |
Achchuthan Shanmugasundram gene: VPS4A was added gene: VPS4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VPS4A were set to 33186543; 33186545 Phenotypes for gene: VPS4A were set to CIMDAG Syndrome, biallelic; CIMDAG Syndrome, monoallelic Mode of pathogenicity for gene: VPS4A was set to Other |
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| DDG2P v3.11 | VPS13B | Achchuthan Shanmugasundram Publications for gene: VPS13B were updated from to 31580008 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VLDLR | Achchuthan Shanmugasundram Publications for gene: VLDLR were updated from 18043714; 18326629; 16080122 to 34085948; 18326629; 18043714; 16080122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VDR | Achchuthan Shanmugasundram Publications for gene: VDR were updated from 2849209; 8675579; 3024987; 8961271; 9360557; 2557627; 8392085; 2177843; 17970811; 11564167; 2558018 to 3024987; 9005998; 9360557; 11564167; 2557627; 2177843; 17970811; 2558018; 2849209; 8675579; 8392085; 8961271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VCP |
Achchuthan Shanmugasundram gene: VCP was added gene: VCP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VCP were set to VCP-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | VANGL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene VANGL1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VAMP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to VAMP2. Mode of pathogenicity for gene VAMP2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | VAC14 | Achchuthan Shanmugasundram Mode of pathogenicity for gene VAC14 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UTP4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene UTP4 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | USP9X |
Achchuthan Shanmugasundram Source Expert Review Green was added to USP9X. Publications for gene: USP9X were updated from 24607389; 26833328 to 24607389; 31443933; 26833328 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | USP7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to USP7. Mode of inheritance for gene USP7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: USP7 were updated from 26365382 to 30679821; 26365382 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | USP27X |
Achchuthan Shanmugasundram Source Expert Review Green was added to USP27X. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | USP18 |
Achchuthan Shanmugasundram Source Expert Review Green was added to USP18. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | USP14 |
Achchuthan Shanmugasundram gene: USP14 was added gene: USP14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 35066879 Phenotypes for gene: USP14 were set to DISTAL ARTHROGRYPOSIS Mode of pathogenicity for gene: USP14 was set to Other |
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| DDG2P v3.11 | USB1 | Achchuthan Shanmugasundram Publications for gene: USB1 were updated from 23190533; 23393019; 25044170 to 25044170; 23393019; 23190533 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UROS | Achchuthan Shanmugasundram Publications for gene: UROS were updated from 7860775; 11254675; 19965637; 9834209; 1733834; 8946173; 12060141; 2331520 to 8946173; 19965637; 7860775; 2331520; 12060141; 1733834; 11254675; 9834209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UROC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene UROC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UQCRQ |
Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRQ. Mode of pathogenicity for gene UQCRQ was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | UQCRFS1 |
Achchuthan Shanmugasundram gene: UQCRFS1 was added gene: UQCRFS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRFS1 were set to 31883641 Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis |
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| DDG2P v3.11 | UQCRB |
Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | UPF1 |
Achchuthan Shanmugasundram gene: UPF1 was added gene: UPF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UPF1 were set to 33057194 Phenotypes for gene: UPF1 were set to UPF1-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | UNC80 | Achchuthan Shanmugasundram Publications for gene: UNC80 were updated from 26708751; 26708753 to 26708753; 26708751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UNC45B |
Achchuthan Shanmugasundram gene: UNC45B was added gene: UNC45B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45B were set to 33217308 Phenotypes for gene: UNC45B were set to UNC45B-associated Progressive Myopathy with Eccentric Cores Mode of pathogenicity for gene: UNC45B was set to Other |
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| DDG2P v3.11 | UNC45A |
Achchuthan Shanmugasundram gene: UNC45A was added gene: UNC45A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45A were set to 35575086 Phenotypes for gene: UNC45A were set to Osteootohepatoenteric syndrome |
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| DDG2P v3.11 | UHRF1 |
Achchuthan Shanmugasundram gene: UHRF1 was added gene: UHRF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UHRF1 were set to 36458887 Phenotypes for gene: UHRF1 were set to UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome Mode of pathogenicity for gene: UHRF1 was set to Other |
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| DDG2P v3.11 | UGT1A1 | Achchuthan Shanmugasundram Publications for gene: UGT1A1 were updated from 11968090; 9039987; 9497253; 9295054 to 9497253; 9295054; 11968090; 9039987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UGP2 |
Achchuthan Shanmugasundram gene: UGP2 was added gene: UGP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGP2 were set to 31820119 Phenotypes for gene: UGP2 were set to UGP2 Epileptic Encephalopathy |
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| DDG2P v3.11 | UFSP2 |
Achchuthan Shanmugasundram gene: UFSP2 was added gene: UFSP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: UFSP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFSP2 were set to 33473208 Phenotypes for gene: UFSP2 were set to UFSP2-associated developmental delay and epilepsy Mode of pathogenicity for gene: UFSP2 was set to Other |
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| DDG2P v3.11 | UFC1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene UFC1 was changed from to Other Publications for gene: UFC1 were updated from to 29868776 |
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| DDG2P v3.11 | UBTF |
Achchuthan Shanmugasundram Source Expert Review Green was added to UBTF. Mode of pathogenicity for gene UBTF was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | UBR7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to UBR7. Publications for gene: UBR7 were updated from 21937992 to 21937992; 36757286; 33340455 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | UBR1 | Achchuthan Shanmugasundram Publications for gene: UBR1 were updated from 16311597; 19006206; 18553553 to 19006206; 16311597; 18553553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UBE4A |
Achchuthan Shanmugasundram gene: UBE4A was added gene: UBE4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBE4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE4A were set to 33420346 Phenotypes for gene: UBE4A were set to UBE4A-associated neurodevelopmental disorder |
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| DDG2P v3.11 | UBE3B | Achchuthan Shanmugasundram Publications for gene: UBE3B were updated from 21567902; 23200864 to 23200864; 21567902 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UBE3A | Achchuthan Shanmugasundram Publications for gene: UBE3A were updated from to 1338769; 7905534; 8988171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UBE2T |
Achchuthan Shanmugasundram Source Expert Review Green was added to UBE2T. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | UBAP2L |
Achchuthan Shanmugasundram gene: UBAP2L was added gene: UBAP2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBAP2L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBAP2L were set to 35977029 Phenotypes for gene: UBAP2L were set to UBAP2L-associated neurodevelopmental disorder |
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| DDG2P v3.11 | UBA5 | Achchuthan Shanmugasundram Publications for gene: UBA5 were updated from 27545674; 27545681 to 27545681; 27545674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | U2AF2 |
Achchuthan Shanmugasundram gene: U2AF2 was added gene: U2AF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: U2AF2 were set to 33057194 Phenotypes for gene: U2AF2 were set to U2AF2-related developmental disorder (monoallelic) Mode of pathogenicity for gene: U2AF2 was set to Other |
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| DDG2P v3.11 | TYRP1 | Achchuthan Shanmugasundram Publications for gene: TYRP1 were updated from 8651291; 15996218; 19533799; 16704458 to 15996218; 8651291; 19533799; 16704458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TYR | Achchuthan Shanmugasundram Publications for gene: TYR were updated from to 8477259; 30679655; 1970634; 2511845; 3081286; 28667292 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TWIST2 |
Achchuthan Shanmugasundram Mode of inheritance for gene TWIST2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWIST2 were updated from 8818454; 21931173; 14069095 to 14069095; 26119818; 21931173; 8818454 |
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| DDG2P v3.11 | TWIST1 | Achchuthan Shanmugasundram Publications for gene: TWIST1 were updated from 17343269 to 17343269; 8988166; 8988167; 9259286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TUSC3 | Achchuthan Shanmugasundram Publications for gene: TUSC3 were updated from 18455129; 21739581 to 21739581; 18455129 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TUFM |
Achchuthan Shanmugasundram Source Expert Review Green was added to TUFM. Mode of pathogenicity for gene TUFM was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TUBGCP4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TUBGCP4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TUBGCP2 |
Achchuthan Shanmugasundram gene: TUBGCP2 was added gene: TUBGCP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP2 were set to 31630790 Phenotypes for gene: TUBGCP2 were set to Microcephaly and Lissencephaly Spectrum Disorders Mode of pathogenicity for gene: TUBGCP2 was set to Other |
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| DDG2P v3.11 | TUBG1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TUBG1. Mode of pathogenicity for gene TUBG1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TUBB4A | Achchuthan Shanmugasundram Mode of pathogenicity for gene TUBB4A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TUBB3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TUBB3. Mode of pathogenicity for gene TUBB3 was changed from Other - please provide details in the comments to Other Publications for gene: TUBB3 were updated from 20829227 to 20074521; 20829227 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TUBB2B |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TUBB2B was changed from Other - please provide details in the comments to Other Publications for gene: TUBB2B were updated from 19465910; 22333901 to 22333901; 19465910 |
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| DDG2P v3.11 | TUBB2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene TUBB2A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TUBB |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TUBB was changed from Other - please provide details in the comments to Other Publications for gene: TUBB were updated from 26637975 to 23246003; 26637975 |
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| DDG2P v3.11 | TUBA8 |
Achchuthan Shanmugasundram Source Expert Review Red was added to TUBA8. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | TUBA1A | Achchuthan Shanmugasundram Publications for gene: TUBA1A were updated from 17218254; 30016746; 18728072; 18954413; 21403111; 17584854 to 21403111; 17218254; 18728072; 17584854; 30016746; 33649541; 18954413 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TTN |
Achchuthan Shanmugasundram Source Expert Review Green was added to TTN. Publications for gene: TTN were updated from 17444505; 29575618; 28040389; 29691892 to 31660661; 36495114; 32778822; 29575618; 29691892; 17444505; 35605965; 28040389 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TTI2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TTI2. Mode of pathogenicity for gene TTI2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TTC5 |
Achchuthan Shanmugasundram gene: TTC5 was added gene: TTC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC5 were set to 32439809 Phenotypes for gene: TTC5 were set to TTC5-associated neurodevelopmental disorder |
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| DDG2P v3.11 | TTC37 | Achchuthan Shanmugasundram Publications for gene: TTC37 were updated from 20176027; 21120949 to 21120949; 20176027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TTC25 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TTC25. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TTC12 |
Achchuthan Shanmugasundram gene: TTC12 was added gene: TTC12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC12 were set to 31978331 Phenotypes for gene: TTC12 were set to TTC12-related Primary Ciliary Dyskinesia |
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| DDG2P v3.11 | TSPAN7 | Achchuthan Shanmugasundram Publications for gene: TSPAN7 were updated from 10449641; 10655063 to 10655063; 10449641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TSHR |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TSHR was changed from Other - please provide details in the comments to Other Publications for gene: TSHR were updated from 9854118 to 9100579; 9589691; 7528344; 9329388; 9185526; 8954020; 11095460; 12050212; 10720030; 9854118 |
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| DDG2P v3.11 | TSEN54 | Achchuthan Shanmugasundram Publications for gene: TSEN54 were updated from to 34085948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TSEN34 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TSEN34. Mode of pathogenicity for gene TSEN34 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TSEN2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TSEN2. Mode of pathogenicity for gene TSEN2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TSEN15 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TSEN15. Mode of pathogenicity for gene TSEN15 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TSC2 | Achchuthan Shanmugasundram Publications for gene: TSC2 were updated from 8825048; 10206124; 9463313; 19259131; 7581393; 8634701; 9302281; 11403047; 17120248; 8824881; 12752578; 9361032; 10069705 to 11403047; 9302281; 12752578; 19259131; 10206124; 9463313; 8824881; 10069705; 17120248; 9361032; 8825048; 8634701; 7581393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TSC1 | Achchuthan Shanmugasundram Publications for gene: TSC1 were updated from 10053179; 10340649; 18830229; 9242607 to 9242607; 10823953; 10340649; 18830229; 10053179 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRRAP |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRRAP. Mode of pathogenicity for gene TRRAP was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRPV6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRPV6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRPV4 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TRPV4 was changed from Other - please provide details in the comments to Other Publications for gene: TRPV4 were updated from 20577006; 20425821; 21964829; 19232556 to 20425821; 19232556; 20577006; 21964829 |
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| DDG2P v3.11 | TRPV3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRPV3. Mode of pathogenicity for gene TRPV3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRPS1 | Achchuthan Shanmugasundram Publications for gene: TRPS1 were updated from 11359471; 14560312; 10615131 to 14560312; 11359471; 10615131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRPM3 |
Achchuthan Shanmugasundram gene: TRPM3 was added gene: TRPM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPM3 were set to 36648066; 32439617; 34438093; 35146895; 31278393 Phenotypes for gene: TRPM3 were set to TRPM3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: TRPM3 was set to Other |
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| DDG2P v3.11 | TRPM1 | Achchuthan Shanmugasundram Publications for gene: TRPM1 were updated from 19878917; 20300565; 19896109; 19896113 to 19878917; 20300565; 19896113; 19896109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRPC5 |
Achchuthan Shanmugasundram gene: TRPC5 was added gene: TRPC5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRPC5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TRPC5 were set to 36323681 Phenotypes for gene: TRPC5 were set to TRPC5-related neurodevelopmental disorder |
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| DDG2P v3.11 | TRNT1 |
Achchuthan Shanmugasundram gene: TRNT1 was added gene: TRNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to 25193871; 29170023; 27370603; 32592741; 33936027; 27389523; 32181284; 26494905; 33843817; 30758723 Phenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959 |
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| DDG2P v3.11 | TRMT10C |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRMT10C. Mode of pathogenicity for gene TRMT10C was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRMT10A |
Achchuthan Shanmugasundram gene: TRMT10A was added gene: TRMT10A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10A were set to 26526202; 25053765; 24204302; 26535115 Phenotypes for gene: TRMT10A were set to INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302 |
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| DDG2P v3.11 | TRIT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRIT1. Publications for gene: TRIT1 were updated from 24901367 to 32088416; 28185376; 32948376; 31140736; 24901367 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRIP4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRIP4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRIP13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRIP13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRIP12 | Achchuthan Shanmugasundram Publications for gene: TRIP12 were updated from 28251352; 27848077 to 27848077; 31814248; 28251352; 36747006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRIO |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRIO. Mode of pathogenicity for gene TRIO was changed from None to Other Publications for gene: TRIO were updated from 26235986; 27418539; 28796471 to 27418539; 28796471; 32109419; 26235986; 28928363 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRIM8 |
Achchuthan Shanmugasundram gene: TRIM8 was added gene: TRIM8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIM8 were set to 32531461; 30244534; 27346735; 33508234 Phenotypes for gene: TRIM8 were set to TRIM8-related neurodevelopmental disorder |
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| DDG2P v3.11 | TRIM32 | Achchuthan Shanmugasundram Publications for gene: TRIM32 were updated from 11822024; 17994549 to 11822024; 17994549; 16606853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRAPPC9 | Achchuthan Shanmugasundram Publications for gene: TRAPPC9 were updated from 22549410; 20004763; 17120046; 20004764 to 20004764; 20004763; 17120046; 22549410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRAPPC4 |
Achchuthan Shanmugasundram gene: TRAPPC4 was added gene: TRAPPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC4 were set to 33011761; 32125366; 31794024 Phenotypes for gene: TRAPPC4 were set to Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, OMIM:618741 |
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| DDG2P v3.11 | TRAPPC2L |
Achchuthan Shanmugasundram gene: TRAPPC2L was added gene: TRAPPC2L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC2L were set to 32843486; 30120216 Phenotypes for gene: TRAPPC2L were set to TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331 Mode of pathogenicity for gene: TRAPPC2L was set to Other |
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| DDG2P v3.11 | TRAPPC12 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRAPPC12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRAPPC11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRAPPC11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRAPPC10 |
Achchuthan Shanmugasundram gene: TRAPPC10 was added gene: TRAPPC10 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC10 were set to 30167849 Phenotypes for gene: TRAPPC10 were set to TRAPPC10-associated intellectual disability Mode of pathogenicity for gene: TRAPPC10 was set to Other |
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| DDG2P v3.11 | TRAIP |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRAIP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TRAF7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TRAF7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRA2B |
Achchuthan Shanmugasundram gene: TRA2B was added gene: TRA2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRA2B were set to 36549593 Phenotypes for gene: TRA2B were set to TRA2B-associated neurodevelopmental syndrome Mode of pathogenicity for gene: TRA2B was set to Other |
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| DDG2P v3.11 | TPRKB | Achchuthan Shanmugasundram Mode of pathogenicity for gene TPRKB was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TPP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TPP2. Source DD-Gene2Phenotype was added to TPP2. Added phenotypes TPP2-related immune deficiency, autoimmune disease and intellectual disability for gene: TPP2 Publications for gene: TPP2 were updated from PMID: 25414442 to 33586135; 25414442; PMID: 25414442; 25525876 Rating Changed from No List (delete) to Green List (high evidence) |
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| DDG2P v3.11 | TPP1 | Achchuthan Shanmugasundram Publications for gene: TPP1 were updated from 9295267; 12414822; 10330339; 12376936; 10665500; 17959406 to 10330339; 17959406; 12376936; 12414822; 9295267; 10665500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TPM3 |
Achchuthan Shanmugasundram gene: TPM3 was added gene: TPM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM3 were set to 33768912; 24692096 Phenotypes for gene: TPM3 were set to Nemaline/Cap myopathy Mode of pathogenicity for gene: TPM3 was set to Other |
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| DDG2P v3.11 | TPM2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TPM2. Mode of pathogenicity for gene TPM2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TP73 |
Achchuthan Shanmugasundram gene: TP73 was added gene: TP73 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 34077761 Phenotypes for gene: TP73 were set to TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466 |
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| DDG2P v3.11 | TP63 | Achchuthan Shanmugasundram Publications for gene: TP63 were updated from 11462173 to 14684701; 15736220; 19530185; 10535733; 12939657; 11528512; 12766194; 12838557; 11462173; 9443880; 17609671; 11159940; 21204238; 16740912; 10886756; 3366140; 19239083; 11929852; 16724007; 10839977; 16114047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TP53RK |
Achchuthan Shanmugasundram Source Expert Review Green was added to TP53RK. Publications for gene: TP53RK were updated from 30053862; 28805828 to 28805828; 30053862 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TOGARAM1 |
Achchuthan Shanmugasundram gene: TOGARAM1 was added gene: TOGARAM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439; 32453716 Phenotypes for gene: TOGARAM1 were set to TOGARAM1-related ciliopathy |
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| DDG2P v3.11 | TOE1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TOE1. Publications for gene: TOE1 were updated from 28092684 to 34085948; 28092684 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TNRC6B |
Achchuthan Shanmugasundram gene: TNRC6B was added gene: TNRC6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TNRC6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNRC6B were set to 32152250 Phenotypes for gene: TNRC6B were set to TNRC6B-related neurodevelopmental disorder |
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| DDG2P v3.11 | TNPO2 |
Achchuthan Shanmugasundram gene: TNPO2 was added gene: TNPO2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TNPO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNPO2 were set to 34314705 Phenotypes for gene: TNPO2 were set to TNPO2-related intellectual disability Mode of pathogenicity for gene: TNPO2 was set to Other |
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| DDG2P v3.11 | TNNT3 |
Achchuthan Shanmugasundram gene: TNNT3 was added gene: TNNT3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TNNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNNT3 were set to 33977145; 29266598 Phenotypes for gene: TNNT3 were set to TNNT3-associated congenital myopathy (biallelic) |
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| DDG2P v3.11 | TNFRSF13B |
Achchuthan Shanmugasundram Source Expert Review Green was added to TNFRSF13B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TMX2 |
Achchuthan Shanmugasundram gene: TMX2 was added gene: TMX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMX2 were set to 31735293 Phenotypes for gene: TMX2 were set to Primary microcephaly, cortical malformation and epileptic encephalopathy |
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| DDG2P v3.11 | TMTC3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMTC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TMPRSS6 | Achchuthan Shanmugasundram Publications for gene: TMPRSS6 were updated from 19592582; 19357398; 18596229; 18408718 to 19357398; 18408718; 19592582; 18596229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM94 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM94. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TMEM70 | Achchuthan Shanmugasundram Publications for gene: TMEM70 were updated from 18953340; 21147908 to 21147908; 18953340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM67 | Achchuthan Shanmugasundram Publications for gene: TMEM67 were updated from 19508969 to 19508969; 17377820; 16415887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM63C |
Achchuthan Shanmugasundram gene: TMEM63C was added gene: TMEM63C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM63C were set to 35718349 Phenotypes for gene: TMEM63C were set to TMEM63C-associated hereditary spastic paraplegia |
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| DDG2P v3.11 | TMEM63A |
Achchuthan Shanmugasundram gene: TMEM63A was added gene: TMEM63A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM63A were set to 31587869 Phenotypes for gene: TMEM63A were set to Transient Hypomyelination during Infancy Mode of pathogenicity for gene: TMEM63A was set to Other |
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| DDG2P v3.11 | TMEM5 | Achchuthan Shanmugasundram Publications for gene: TMEM5 were updated from 23217329; 23519211 to 23519211; 23217329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM260 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM260. Publications for gene: TMEM260 were updated from 28318500; 34612517 to 34612517; 28318500 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TMEM251 |
Achchuthan Shanmugasundram gene: TMEM251 was added gene: TMEM251 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM251 were set to 33252156 Phenotypes for gene: TMEM251 were set to TMEM251-related skeletal dysplasia |
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| DDG2P v3.11 | TMEM240 |
Achchuthan Shanmugasundram gene: TMEM240 was added gene: TMEM240 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM240 were set to 30522958; 25070513; 29687291; 32705938; 26813285 Phenotypes for gene: TMEM240 were set to TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454 |
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| DDG2P v3.11 | TMEM237 | Achchuthan Shanmugasundram Publications for gene: TMEM237 were updated from 22152675; 14760273; 17603801 to 17603801; 14760273; 22152675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM222 |
Achchuthan Shanmugasundram gene: TMEM222 was added gene: TMEM222 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM222 were set to 33824500 Phenotypes for gene: TMEM222 were set to TMEM222-related Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470 |
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| DDG2P v3.11 | TMEM218 |
Achchuthan Shanmugasundram gene: TMEM218 was added gene: TMEM218 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 35137054; 33791682 Phenotypes for gene: TMEM218 were set to TMEM218-associated ciliopathy |
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| DDG2P v3.11 | TMEM216 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM216. Mode of pathogenicity for gene TMEM216 was changed from Other - please provide details in the comments to Other Publications for gene: TMEM216 were updated from 20036350; 20512146 to 20512146; 20036350 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TMEM199 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM199. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TMEM163 |
Achchuthan Shanmugasundram gene: TMEM163 was added gene: TMEM163 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to 35953447; 35455965 Phenotypes for gene: TMEM163 were set to TMEM163-related hypomyelinating leukodystrophy Mode of pathogenicity for gene: TMEM163 was set to Other |
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| DDG2P v3.11 | TMEM147 |
Achchuthan Shanmugasundram gene: TMEM147 was added gene: TMEM147 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM147 were set to 36044892 Phenotypes for gene: TMEM147 were set to TMEM147-related developmental disorder |
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| DDG2P v3.11 | TMEM135 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TMEM135 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM114 | Achchuthan Shanmugasundram Publications for gene: TMEM114 were updated from 17492639 to 24357539; 17492639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TMEM106B |
Achchuthan Shanmugasundram gene: TMEM106B was added gene: TMEM106B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM106B were set to 29444210; 29186371 Phenotypes for gene: TMEM106B were set to TMEM106B related hypomyelinating leukodystrophy Mode of pathogenicity for gene: TMEM106B was set to Other |
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| DDG2P v3.11 | TLL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TLL1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TLK2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TLK2. Publications for gene: TLK2 were updated from 27479843 to 27479843; 29861108 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TKT |
Achchuthan Shanmugasundram Source Expert Review Green was added to TKT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TKFC |
Achchuthan Shanmugasundram gene: TKFC was added gene: TKFC was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKFC were set to 32004446 Phenotypes for gene: TKFC were set to TKFC-related Cataracts and Multisystem Disease |
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| DDG2P v3.11 | TK2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TK2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TIMM8A | Achchuthan Shanmugasundram Publications for gene: TIMM8A were updated from to 31903733 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | THUMPD1 |
Achchuthan Shanmugasundram gene: THUMPD1 was added gene: THUMPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THUMPD1 were set to 35196516 Phenotypes for gene: THUMPD1 were set to THUMPD1 neurodevelopment disorder |
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| DDG2P v3.11 | THRA | Achchuthan Shanmugasundram Publications for gene: THRA were updated from 22168587; 22494134 to 22494134; 22168587 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | THOC6 | Achchuthan Shanmugasundram Publications for gene: THOC6 were updated from 27295358; 23621916; 26739162 to 23621916; 26739162; 27295358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | THOC2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to THOC2. Mode of pathogenicity for gene THOC2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | THG1L |
Achchuthan Shanmugasundram gene: THG1L was added gene: THG1L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THG1L were set to 30214071; 27307223; 31168944; 33682303 Phenotypes for gene: THG1L were set to THG1L-associated cerebellar ataxia, OMIM:618800 Mode of pathogenicity for gene: THG1L was set to Other |
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| DDG2P v3.11 | THAP1 | Achchuthan Shanmugasundram Publications for gene: THAP1 were updated from to 30237473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TH | Achchuthan Shanmugasundram Publications for gene: TH were updated from 17696123; 8528210; 7814018; 9703425; 10585338; 21937992; 8817341; 9732974; 11246459 to 21937992; 10585338; 11246459; 8817341; 9703425; 17696123; 8528210; 9732974; 7814018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TGFBR1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TGFBR1 was changed from Other - please provide details in the comments to Other Publications for gene: TGFBR1 were updated from 16791849; 16928994; 18070134 to 16791849; 16928994; 18070134; 16596670; 15731757 |
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| DDG2P v3.11 | TGFB1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TGFB1 was changed from Other - please provide details in the comments to Other Publications for gene: TGFB1 were updated from 10973241; 15103729; 11062463 to 11062463; 15103729; 10973241 |
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| DDG2P v3.11 | TFRC | Achchuthan Shanmugasundram Mode of pathogenicity for gene TFRC was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TFE3 |
Achchuthan Shanmugasundram gene: TFE3 was added gene: TFE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFE3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TFE3 were set to 30595499; 33057194; 32409512; 31833172 Phenotypes for gene: TFE3 were set to TFE3-related intellectual disability with pigmentary mosaicism; Intellectual disability with pigmentary mosaicism and storage disorder Mode of pathogenicity for gene: TFE3 was set to Other |
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| DDG2P v3.11 | TFAP2B |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TFAP2B was changed from Other - please provide details in the comments to Other Publications for gene: TFAP2B were updated from 11505339; 10802654; 7645594 to 10802654; 11505339; 7645594 |
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| DDG2P v3.11 | TFAP2A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TFAP2A was changed from Other - please provide details in the comments to Other Publications for gene: TFAP2A were updated from to 31490282 |
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| DDG2P v3.11 | TET3 |
Achchuthan Shanmugasundram gene: TET3 was added gene: TET3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TET3 were set to 31928709 Phenotypes for gene: TET3 were set to TET3 DNA Demethylation Disorder biallelic; TET3 DNA Demethylation Disorder monoallelic |
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| DDG2P v3.11 | TERT | Achchuthan Shanmugasundram Mode of pathogenicity for gene TERT was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TERC |
Achchuthan Shanmugasundram Source Expert Review Green was added to TERC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TELO2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TELO2. Mode of pathogenicity for gene TELO2 was changed from Other - please provide details in the comments to Other Publications for gene: TELO2 were updated from 27132593; 28944240 to 27132593; 36797513; 28944240 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TEK |
Achchuthan Shanmugasundram Mode of pathogenicity for gene TEK was changed from Other - please provide details in the comments to Other Publications for gene: TEK were updated from 19888299; 7833915; 10369874 to 7833915; 10369874; 19888299 |
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| DDG2P v3.11 | TECPR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TECPR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TDRD7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TDRD7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TCTN2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TCTN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TCTN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TCTN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TCOF1 | Achchuthan Shanmugasundram Publications for gene: TCOF1 were updated from 15039977; 11013442; 9096354; 8563749; 12114482; 15214011; 14598341 to 15039977; 14598341; 9096354; 15214011; 8563749; 11013442; 12114482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TCF7L2 |
Achchuthan Shanmugasundram gene: TCF7L2 was added gene: TCF7L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCF7L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF7L2 were set to 34003604; 33057194 Phenotypes for gene: TCF7L2 were set to TCF7L2-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | TCF4 | Achchuthan Shanmugasundram Publications for gene: TCF4 were updated from 17436254; 17436255; 18728071 to 29604340; 17436254; 22670824; 20184619; 18728071; 19938247; 17436255; 22045651; 20205897; 27132474; 30848346; 29695756; 23528641; 19235238 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TCF20 | Achchuthan Shanmugasundram Publications for gene: TCF20 were updated from 28135719; 25228304; 27436265 to 30819258; 25228304; 30739909; 28135719; 27436265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TCF12 | Achchuthan Shanmugasundram Publications for gene: TCF12 were updated from 23354436 to 23354436; 33004838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TCEAL1 |
Achchuthan Shanmugasundram gene: TCEAL1 was added gene: TCEAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TCEAL1 were set to 36368327 Phenotypes for gene: TCEAL1 were set to TCEAL1-related neurodevelopmental disorder Mode of pathogenicity for gene: TCEAL1 was set to Other |
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| DDG2P v3.11 | TBXAS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TBXAS1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBX4 | Achchuthan Shanmugasundram Publications for gene: TBX4 were updated from 11303519; 15106123 to 11303519; 15106123; 31761294 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBX3 | Achchuthan Shanmugasundram Publications for gene: TBX3 were updated from 19938096; 9207801; 12116211; 12668170 to 9207801; 19938096; 12668170; 12116211 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBX20 | Achchuthan Shanmugasundram Publications for gene: TBX20 were updated from 17668378; 19762328 to 19762328; 17668378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBX18 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TBX18. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TBX15 | Achchuthan Shanmugasundram Publications for gene: TBX15 were updated from 19068278; 24039145 to 24039145; 19068278 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TBR1. Publications for gene: TBR1 were updated from 23160955 to 25232744; 23160955; 30268909; 32005960 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TBL1XR1 | Achchuthan Shanmugasundram Publications for gene: TBL1XR1 were updated from 28687524; 26769062; 30365874 to 25425123; 25102098; 29777588; 30365874; 26769062; 28687524; 23160955 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBCK | Achchuthan Shanmugasundram Publications for gene: TBCK were updated from 27040692; 27748029; 27040691 to 27748029; 27040691; 27040692 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBCE | Achchuthan Shanmugasundram Publications for gene: TBCE were updated from 27666369 to 12389028; 27666369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBC1D2B |
Achchuthan Shanmugasundram gene: TBC1D2B was added gene: TBC1D2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D2B were set to 36029130; 32623794 Phenotypes for gene: TBC1D2B were set to TBC1D2B-related neurodevelopmental disorder |
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| DDG2P v3.11 | TBC1D24 | Achchuthan Shanmugasundram Publications for gene: TBC1D24 were updated from 24291220 to 20727515; 10741954; 24291220; 20797691 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TBC1D20 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TBC1D20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TASP1 |
Achchuthan Shanmugasundram gene: TASP1 was added gene: TASP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TASP1 were set to 35512351; 31209944 Phenotypes for gene: TASP1 were set to TASP1-related neurodevelopmental disorder |
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| DDG2P v3.11 | TARS |
Achchuthan Shanmugasundram Source Expert Review Green was added to TARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TAPT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TAPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TAOK1 | Achchuthan Shanmugasundram Publications for gene: TAOK1 were updated from 31230721 to 31230721; 33565190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TANC2 |
Achchuthan Shanmugasundram gene: TANC2 was added gene: TANC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TANC2 were set to 31616000 Phenotypes for gene: TANC2 were set to TANC2-related neurodevelopmental and psychiatric disorders |
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| DDG2P v3.11 | TAF8 |
Achchuthan Shanmugasundram gene: TAF8 was added gene: TAF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF8 were set to 35759269 Phenotypes for gene: TAF8 were set to TAF8-associated neurodevelopmental disorder |
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| DDG2P v3.11 | TAF4 |
Achchuthan Shanmugasundram Source DD-Gene2Phenotype was added to TAF4. Source Expert Review Red was added to TAF4. Mode of inheritance for gene TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes TAF4-related neurodevelopmental disorder for gene: TAF4 Publications for gene: TAF4 were updated from 33875846 to 35904126; 33875846 Rating Changed from No List (delete) to Red List (low evidence) |
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| DDG2P v3.11 | TAF2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TAF2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TAF13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TAF13. Mode of pathogenicity for gene TAF13 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TACR3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TACR3. Mode of pathogenicity for gene TACR3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TACO1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TACO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TAC3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TAC3. Mode of pathogenicity for gene TAC3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | TAB2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TAB2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SZT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SZT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SYT2 |
Achchuthan Shanmugasundram gene: SYT2 was added gene: SYT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYT2 were set to 32250532; 32776697 Phenotypes for gene: SYT2 were set to SYT2-related congenital onset presynaptic myasthenic syndrome |
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| DDG2P v3.11 | SYT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SYT1. Mode of pathogenicity for gene SYT1 was changed from Other - please provide details in the comments to Other Publications for gene: SYT1 were updated from 25705886 to 30107533; 25705886 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SYNGAP1 | Achchuthan Shanmugasundram Publications for gene: SYNGAP1 were updated from 23033978; 19196676; 23161826; 21237447; 23141534 to 30685520; 26110312; 23141534; 26079862; 23161826; 30572772; 21237447; 19196676; 23033978; 28721930; 30800045; 28576131; 26989088; 31395010; 30556619; 23708187; 29381230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SYNCRIP |
Achchuthan Shanmugasundram gene: SYNCRIP was added gene: SYNCRIP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SYNCRIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SYNCRIP were set to SYNCRIP-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | SYN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SYN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SUZ12 | Achchuthan Shanmugasundram Publications for gene: SUZ12 were updated from 30019515; 28229514 to 28229514; 30019515; 31736240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SUPT16H |
Achchuthan Shanmugasundram gene: SUPT16H was added gene: SUPT16H was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUPT16H were set to 31924697 Phenotypes for gene: SUPT16H were set to SUPT16H-related neurodevelopmental disorder Mode of pathogenicity for gene: SUPT16H was set to Other |
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| DDG2P v3.11 | SUOX |
Achchuthan Shanmugasundram gene: SUOX was added gene: SUOX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUOX were set to 34117075; 33405344; 34025712; 12112661; 15952210 Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, OMIM:272300 |
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| DDG2P v3.11 | SUMF1 | Achchuthan Shanmugasundram Publications for gene: SUMF1 were updated from 12757706; 12757705; 21224894 to 21224894; 12757705; 12757706 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SUFU |
Achchuthan Shanmugasundram Source Expert Review Green was added to SUFU. Mode of inheritance for gene SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SUFU were updated from 28965847 to 33024317; 28965847; 34675124 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | STXBP1 | Achchuthan Shanmugasundram Publications for gene: STXBP1 were updated from 18469812; 19557857 to 18469812; 29929108; 27069701; 25714420; 30654231; 21770924; 31387522; 24315539; 29544889; 29264391; 26212315; 32105008; 26384463; 19557857; 24170257; 29718889; 24095819; 27184330; 28944233; 29896790; 20876469; 26865513; 24623842; 31344879; 21204804; 20887364; 22596016; 25418441; 23533165; 24189369; 26514728; 23763664; 21762454; 23409955; 21364700; 21062273; 23531706; 25631041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | STX1B |
Achchuthan Shanmugasundram Source Expert Review Green was added to STX1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | STT3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to STT3A. Mode of inheritance for gene STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene STT3A was changed from Other - please provide details in the comments to Other Publications for gene: STT3A were updated from 23842455 to 23842455; 34653363 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | STS | Achchuthan Shanmugasundram Publications for gene: STS were updated from 3032454; 9252398; 1539590 to 1539590; 9252398; 3032454 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | STRADA |
Achchuthan Shanmugasundram gene: STRADA was added gene: STRADA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STRADA were set to 27170158; 33247513; 17522105; 30311510 Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 |
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| DDG2P v3.11 | STRA6 | Achchuthan Shanmugasundram Publications for gene: STRA6 were updated from 17503335; 17273977; 21901792; 11857549; 19839040 to 19839040; 11857549; 17273977; 21901792; 17503335 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | STN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to STN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | STIM1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene STIM1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | STIL |
Achchuthan Shanmugasundram Source Expert Review Green was added to STIL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | STAT5B |
Achchuthan Shanmugasundram Source Expert Review Green was added to STAT5B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | STAR | Achchuthan Shanmugasundram Publications for gene: STAR were updated from 15546900; 8634702; 16968793; 14764819; 10566637; 9141542; 7892608; 8948562; 10323391 to 8634702; 8948562; 16968793; 9141542; 7892608; 15546900; 14764819; 10566637; 10323391 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | STAC3 |
Achchuthan Shanmugasundram gene: STAC3 was added gene: STAC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 28777491; 33820833; 30168660; 33060286; 28411587 Phenotypes for gene: STAC3 were set to STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995 |
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| DDG2P v3.11 | ST3GAL5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ST3GAL5. Publications for gene: ST3GAL5 were updated from to 30691927; 24026681; 27232954; 15502825; 30185102 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ST3GAL3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ST3GAL3. Mode of pathogenicity for gene ST3GAL3 was changed from Other - please provide details in the comments to Other Publications for gene: ST3GAL3 were updated from 27604308; 21907012; 23252400; 31584066; 17120046; 25529582 to 31584066; 27604308; 21907012; 23252400; 17120046; 25529582 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ST14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ST14. Mode of pathogenicity for gene ST14 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SRY | Achchuthan Shanmugasundram Publications for gene: SRY were updated from 1619028; 12107262; 9443877; 2247149; 1339396; 1639410; 2247151; 1956279; 10852465; 1570829; 8105086; 7987333; 7985018; 9150734; 9521592; 1483689 to 8105086; 2247151; 1639410; 10852465; 1956279; 1339396; 7987333; 1619028; 2247149; 9443877; 1483689; 9521592; 7985018; 1570829; 9150734; 12107262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SRSF1 |
Achchuthan Shanmugasundram gene: SRSF1 was added gene: SRSF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SRSF1 were set to SRSF1-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | SRRM2 |
Achchuthan Shanmugasundram gene: SRRM2 was added gene: SRRM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRRM2 were set to 33057194; 35567594 Phenotypes for gene: SRRM2 were set to SRRM2-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | SRPX2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SRPX2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SRP54 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SRP54. Mode of pathogenicity for gene SRP54 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SRD5A3 | Achchuthan Shanmugasundram Publications for gene: SRD5A3 were updated from 20637498; 18271001 to 18271001; 30019980; 20637498 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SRCAP | Achchuthan Shanmugasundram Publications for gene: SRCAP were updated from 20358590; 22265015 to 33909990; 20358590; 30425916; 23621943; 22265015; 30304910; 24375913; 23763483; 22965468; 23165645; 25433523; 26788936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPTLC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SPTLC2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPTBN4 |
Achchuthan Shanmugasundram gene: SPTBN4 was added gene: SPTBN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413; 29861105; 28940097; 31857255; 31230720 Phenotypes for gene: SPTBN4 were set to NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519 |
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| DDG2P v3.11 | SPTBN2 |
Achchuthan Shanmugasundram Mode of inheritance for gene SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPTBN2 were updated from 25981959; 22914369; 29795474 to 29795474; 22914369; 25981959 |
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| DDG2P v3.11 | SPTBN1 |
Achchuthan Shanmugasundram gene: SPTBN1 was added gene: SPTBN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTBN1 were set to 34211179; 33847457 Phenotypes for gene: SPTBN1 were set to SPTBN1-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | SPTAN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPTAN1. Publications for gene: SPTAN1 were updated from 22258530; 20493457 to 36331550; 34590414; 22258530; 20493457; 29050398 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SPRY1 |
Achchuthan Shanmugasundram gene: SPRY1 was added gene: SPRY1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRY1 were set to 36543535 Phenotypes for gene: SPRY1 were set to SPRY1-associated craniosynostosis with inner ear and renal anomalies Mode of pathogenicity for gene: SPRY1 was set to Other |
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| DDG2P v3.11 | SPRTN | Achchuthan Shanmugasundram Mode of pathogenicity for gene SPRTN was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPRED2 |
Achchuthan Shanmugasundram gene: SPRED2 was added gene: SPRED2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to 34626534 Phenotypes for gene: SPRED2 were set to SPRED2-related Noonan syndrome |
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| DDG2P v3.11 | SPRED1 | Achchuthan Shanmugasundram Publications for gene: SPRED1 were updated from 19366998; 17704776; 21649642; 19443465 to 17704776; 19443465; 21649642; 19366998 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPOP |
Achchuthan Shanmugasundram gene: SPOP was added gene: SPOP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPOP were set to 32109420 Phenotypes for gene: SPOP were set to SPOP-related Neurodevelopmental Disorder, gain of function; SPOP-related Neurodevelopmental Disorder, dominant negative Mode of pathogenicity for gene: SPOP was set to Other |
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| DDG2P v3.11 | SPG11 | Achchuthan Shanmugasundram Publications for gene: SPG11 were updated from 17717710; 19194956; 17322883; 18067136 to 19194956; 17322883; 18067136; 17717710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPEN |
Achchuthan Shanmugasundram gene: SPEN was added gene: SPEN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPEN were set to 33596411; 33057194 Phenotypes for gene: SPEN were set to SPEN-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | SPECC1L |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPECC1L. Mode of pathogenicity for gene SPECC1L was changed from Other - please provide details in the comments to Other Publications for gene: SPECC1L were updated from 2541274; 21703590 to 21703590; 2541274 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SPATA5L1 |
Achchuthan Shanmugasundram gene: SPATA5L1 was added gene: SPATA5L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 34626583 Phenotypes for gene: SPATA5L1 were set to SPATA5L1-associated sensorineural hearing loss and intellectual disability |
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| DDG2P v3.11 | SPAST |
Achchuthan Shanmugasundram gene: SPAST was added gene: SPAST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPAST were set to SPAST-related developmental disorder (monoallelic) Mode of pathogenicity for gene: SPAST was set to Other |
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| DDG2P v3.11 | SPARC |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPARC. Mode of pathogenicity for gene SPARC was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SOX9 | Achchuthan Shanmugasundram Publications for gene: SOX9 were updated from 11754051; 7990924; 12783851; 7485151; 11076045; 19449405; 11323423; 10951468; 8001137; 8894698 to 11323423; 11754051; 10951468; 12783851; 8894698; 7990924; 7485151; 8001137; 19449405; 11076045 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SOX6 |
Achchuthan Shanmugasundram gene: SOX6 was added gene: SOX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX6 were set to 32442410 Phenotypes for gene: SOX6 were set to SOX6-related neurodevelopmental syndrome |
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| DDG2P v3.11 | SOX5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SOX5. Publications for gene: SOX5 were updated from 22290657 to 36861937; 22290657 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SOX4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SOX4. Mode of pathogenicity for gene SOX4 was changed from Other - please provide details in the comments to Other Publications for gene: SOX4 were updated from 30661772 to 35232796; 30661772 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SOX2 | Achchuthan Shanmugasundram Publications for gene: SOX2 were updated from 12612584; 21326281; 15346919; 21919124; 16145681; 15389708; 18831064; 19254784; 15812812; 16470798; 12002146; 16543359; 16932809; 16283891 to 15389708; 16145681; 21326281; 18831064; 16283891; 12002146; 12612584; 15346919; 17219395; 15812812; 16932809; 16543359; 21919124; 19254784; 16470798 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SOX17 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SOX17 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SOX11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SOX11. Publications for gene: SOX11 were updated from 24886874; 26543203 to 35341651; 26543203; 24886874 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SOX10 | Achchuthan Shanmugasundram Publications for gene: SOX10 were updated from 18348274; 9462749; 10077527; 17999358 to 18627047; 8911608; 21965087; 20478267; 11026454; 10482261; 18348274; 23643381; 12447940; 9462749; 18348267; 19764030; 17999358; 10077527; 19208381; 10762540 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SOS2 |
Achchuthan Shanmugasundram gene: SOS2 was added gene: SOS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS2 were set to 26173643; 25795793; 32788663 Phenotypes for gene: SOS2 were set to SOS-2 associated Noonan syndrome, OMIM:616559 Mode of pathogenicity for gene: SOS2 was set to Other |
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| DDG2P v3.11 | SOS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SOS1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SON | Achchuthan Shanmugasundram Publications for gene: SON were updated from 27545680; 27545676 to 27545676; 27545680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SNRPE |
Achchuthan Shanmugasundram Source Expert Review Green was added to SNRPE. Mode of pathogenicity for gene SNRPE was changed from Other - please provide details in the comments to Other Publications for gene: SNRPE were updated from 23246290; 9621144 to 36814386; 23246290; 9621144 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SNIP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SNIP1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SNAP29 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP29. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SNAP25 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP25. Publications for gene: SNAP25 were updated from 29100083 to 33299146; 29100083 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMS |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMS. Publications for gene: SMS were updated from 19206178; 18550699; 5823961 to 19206178; 5823961; 18550699 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMPD4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMPD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMPD1 | Achchuthan Shanmugasundram Publications for gene: SMPD1 were updated from 12607113; 1301192; 9266408; 1885770; 12369017 to 19405096; 2023926; 8401540; 12607113; 9266408; 12369017; 1301192; 1718266; 1885770; 8051942; 1391960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMOC2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMOC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMO |
Achchuthan Shanmugasundram Mode of inheritance for gene SMO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SMO were updated from to 32413283 |
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| DDG2P v3.11 | SMG9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMG9. Publications for gene: SMG9 were updated from 27018474 to 27018474; 35087184 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMG8 |
Achchuthan Shanmugasundram gene: SMG8 was added gene: SMG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG8 were set to 33242396 Phenotypes for gene: SMG8 were set to SMG8-related Developmental Disorder |
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| DDG2P v3.11 | SMCHD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SMCHD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMC5 |
Achchuthan Shanmugasundram gene: SMC5 was added gene: SMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMC5 were set to 36333305 Phenotypes for gene: SMC5 were set to SMC5-related developmental disorder Mode of pathogenicity for gene: SMC5 was set to Other |
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| DDG2P v3.11 | SMC3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SMC3 was changed from Other - please provide details in the comments to Other Publications for gene: SMC3 were updated from 25125236; 25655089 to 17273969; 25125236; 25655089; 20358602 |
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| DDG2P v3.11 | SMC1A | Achchuthan Shanmugasundram Publications for gene: SMC1A were updated from 20635401; 17273969; 22106055; 16604071 to 17273969; 28548707; 24124034; 28102598; 31185419; 22106055; 26358754; 20635401; 28677859; 26354354; 16604071; 31098032; 28166369; 26386245; 26752331 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMARCE1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCE1. Mode of pathogenicity for gene SMARCE1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMARCD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1. Mode of pathogenicity for gene SMARCD1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMARCC2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMARCB1 | Achchuthan Shanmugasundram Publications for gene: SMARCB1 were updated from 25249037; 23929686; 22726846; 23906836; 23815551; 29907796; 22426308 to 9671307; 22726846; 25249037; 23906836; 22426308; 10739763; 10521299; 23929686; 23815551; 29907796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMARCA2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SMARCA2 was changed from Other - please provide details in the comments to Other Publications for gene: SMARCA2 were updated from 19606471; 22426308; 22366787 to 32694869; 19606471; 22366787; 22426308 |
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| DDG2P v3.11 | SMAD3 | Achchuthan Shanmugasundram Publications for gene: SMAD3 were updated from to 21217753; 29392890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMAD2 | Achchuthan Shanmugasundram Publications for gene: SMAD2 were updated from 23665959 to 30157302; 23665959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLX4 | Achchuthan Shanmugasundram Publications for gene: SLX4 were updated from 21240277; 21240275 to 21240275; 21240277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLIRP |
Achchuthan Shanmugasundram gene: SLIRP was added gene: SLIRP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLIRP were set to 34426662 Phenotypes for gene: SLIRP were set to SLIRP-related mitochondrial encephalomyopathy |
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| DDG2P v3.11 | SLF2 |
Achchuthan Shanmugasundram gene: SLF2 was added gene: SLF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLF2 were set to 36333305 Phenotypes for gene: SLF2 were set to SLF2-related developmental disorder Mode of pathogenicity for gene: SLF2 was set to Other |
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| DDG2P v3.11 | SLC9A7 |
Achchuthan Shanmugasundram gene: SLC9A7 was added gene: SLC9A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC9A7 were set to 30335141 Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108, OMIM:301024 Mode of pathogenicity for gene: SLC9A7 was set to Other |
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| DDG2P v3.11 | SLC6A9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC6A9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC6A8 | Achchuthan Shanmugasundram Publications for gene: SLC6A8 were updated from 11326334; 16086185; 15154114; 12210795; 16738945; 11898126; 17101918 to 16086185; 11326334; 16738945; 12210795; 17101918; 11898126; 15154114 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC6A17 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC6A17. Mode of pathogenicity for gene SLC6A17 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC6A1 | Achchuthan Shanmugasundram Publications for gene: SLC6A1 were updated from 25865495 to 31176687; 34006619; 25865495; 29961511; 29315614; 27600546; 30132828; 31516630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC5A7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC5A7. Mode of pathogenicity for gene SLC5A7 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC5A6 |
Achchuthan Shanmugasundram gene: SLC5A6 was added gene: SLC5A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 27904971; 31754459; 35013551 Phenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder |
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| DDG2P v3.11 | SLC5A5 | Achchuthan Shanmugasundram Publications for gene: SLC5A5 were updated from 9388506; 9745458; 3998954; 9486973; 3451231; 9171822 to 9486973; 9388506; 9171822; 3998954; 3451231; 9745458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC52A3 | Achchuthan Shanmugasundram Publications for gene: SLC52A3 were updated from 20206331; 20920669; 16122634; 21110228 to 21110228; 16122634; 20920669; 20206331 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC4A4 | Achchuthan Shanmugasundram Publications for gene: SLC4A4 were updated from 10545938; 11274232 to 10545938; 11274232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC4A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC4A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC46A1 | Achchuthan Shanmugasundram Publications for gene: SLC46A1 were updated from 17446347; 20795774; 18559978; 11807405; 21333572; 11804211 to 11804211; 17446347; 21333572; 20795774; 18559978; 11807405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC45A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC45A1. Mode of pathogenicity for gene SLC45A1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC39A8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC39A8 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC38A3 |
Achchuthan Shanmugasundram gene: SLC38A3 was added gene: SLC38A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC38A3 were set to 34605855; 36539921 Phenotypes for gene: SLC38A3 were set to SLC38A3-associated epileptic encephalopathy. |
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| DDG2P v3.11 | SLC37A4 |
Achchuthan Shanmugasundram gene: SLC37A4 was added gene: SLC37A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC37A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC37A4 were set to 9758626; 21629566; 28224773; 9428641; 24385852; 31617422; 31508908; 33728255; 32005221; 19579760; 25804016; 33964207 Phenotypes for gene: SLC37A4 were set to SLC37A4-related congenital disorder of glycosylation with liver dysfunction; Glycogen storage disease Ib, OMIM:232220 |
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| DDG2P v3.11 | SLC35D1 | Achchuthan Shanmugasundram Publications for gene: SLC35D1 were updated from 11200994; 19508970; 17952091 to 35934917; 11200994; 19508970; 17952091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC35B2 |
Achchuthan Shanmugasundram gene: SLC35B2 was added gene: SLC35B2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35B2 were set to 35325049 Phenotypes for gene: SLC35B2 were set to SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy Mode of pathogenicity for gene: SLC35B2 was set to Other |
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| DDG2P v3.11 | SLC35A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC35A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC32A1 |
Achchuthan Shanmugasundram gene: SLC32A1 was added gene: SLC32A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC32A1 were set to 34038384; 36073542 Phenotypes for gene: SLC32A1 were set to SLC32A1-associated developmental and epileptic encephalopathy Mode of pathogenicity for gene: SLC32A1 was set to Other |
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| DDG2P v3.11 | SLC31A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC31A1. Mode of pathogenicity for gene SLC31A1 was changed from Other - please provide details in the comments to Other Publications for gene: SLC31A1 were updated from 21937992 to 21937992; 35913762; 36562171 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC30A7 |
Achchuthan Shanmugasundram gene: SLC30A7 was added gene: SLC30A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC30A7 were set to 35751429 Phenotypes for gene: SLC30A7 were set to SLC30A7-associated Joubert syndrome Mode of pathogenicity for gene: SLC30A7 was set to Other |
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| DDG2P v3.11 | SLC2A2 | Achchuthan Shanmugasundram Publications for gene: SLC2A2 were updated from 9354798 to 9354798; 11044475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC2A10 | Achchuthan Shanmugasundram Publications for gene: SLC2A10 were updated from 16550171; 17935213; 14569121 to 14569121; 17935213; 16550171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC2A1 | Achchuthan Shanmugasundram Publications for gene: SLC2A1 were updated from 14605501; 19901175; 18451999; 18403583; 19630075; 18577546 to 10980529; 1714544; 19630075; 14605501; 11136715; 19901175; 11603379; 9462754; 18403583; 18606970; 18577546; 18451999; 20221955 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC26A2 | Achchuthan Shanmugasundram Publications for gene: SLC26A2 were updated from 7923357; 10482955; 10466420; 8571951; 18925670 to 18925670; 10482955; 8571951; 7923357; 4644462; 12966518; 10466420; 8528239 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC25A42 |
Achchuthan Shanmugasundram gene: SLC25A42 was added gene: SLC25A42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337 Phenotypes for gene: SLC25A42 were set to SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 |
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| DDG2P v3.11 | SLC25A4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A4. Mode of pathogenicity for gene SLC25A4 was changed from Other - please provide details in the comments to Other Publications for gene: SLC25A4 were updated from 30046662; 27693233; 30329211 to 27693233; 30046662; 30329211 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC25A24 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC25A24 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC25A22 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A22. Mode of pathogenicity for gene SLC25A22 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC25A20 | Achchuthan Shanmugasundram Publications for gene: SLC25A20 were updated from 9399886; 12859414; 10384384; 10697964; 9686371 to 9399886; 10697964; 9686371; 12859414; 10384384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC25A19 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A19. Mode of pathogenicity for gene SLC25A19 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC25A15 | Achchuthan Shanmugasundram Publications for gene: SLC25A15 were updated from 10369256; 16940241; 11355015; 19242930; 11552031 to 11355015; 19242930; 10369256; 16940241; 11552031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC25A1 |
Achchuthan Shanmugasundram gene: SLC25A1 was added gene: SLC25A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A1 were set to 29226520; 27306203; 23561848 Phenotypes for gene: SLC25A1 were set to SLC25A1-related Neurometabolic Disorder |
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| DDG2P v3.11 | SLC24A4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC24A4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC22A5 | Achchuthan Shanmugasundram Publications for gene: SLC22A5 were updated from 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805; 10545605; 11261427 to 9916797; 2235122; 10480371; 10545605; 15714519; 9634512; 3974805; 10425211; 10051646; 20027113; 9700603; 11058897; 11261427 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC1A4 |
Achchuthan Shanmugasundram gene: SLC1A4 was added gene: SLC1A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 27193218; 26041762; 31763347; 34174466 Phenotypes for gene: SLC1A4 were set to SLC1A4-related Spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
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| DDG2P v3.11 | SLC1A2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC1A2. Mode of pathogenicity for gene SLC1A2 was changed from Other - please provide details in the comments to Other Publications for gene: SLC1A2 were updated from 28777935; 27476654 to 27476654; 28777935 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SLC19A3 | Achchuthan Shanmugasundram Publications for gene: SLC19A3 were updated from 19387023; 15871139; 20065143 to 15871139; 19387023; 20065143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC17A5 | Achchuthan Shanmugasundram Publications for gene: SLC17A5 were updated from 10069709; 10581036 to 10069709; 10947946; 10581036 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC16A2 | Achchuthan Shanmugasundram Publications for gene: SLC16A2 were updated from 15488219; 1605231; 8484404; 14661163; 15889350 to 8484404; 15488219; 1605231; 14661163; 15889350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC13A1 |
Achchuthan Shanmugasundram gene: SLC13A1 was added gene: SLC13A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A1 were set to 36175384 Phenotypes for gene: SLC13A1 were set to SLC13A1-associated hypersulfaturia and hyposulfatemia |
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| DDG2P v3.11 | SLC12A6 | Achchuthan Shanmugasundram Publications for gene: SLC12A6 were updated from 12368912; 31439721; 27485015; 16606917; 17893295; 21628467 to 21628467; 12368912; 27485015; 16606917; 17893295; 31439721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC12A5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC12A5. Mode of inheritance for gene SLC12A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene SLC12A5 was changed from Other - please provide details in the comments to Other Publications for gene: SLC12A5 were updated from 24668262 to 24668262; 28477354; 26333769; 27436767 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SKI | Achchuthan Shanmugasundram Mode of pathogenicity for gene SKI was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIX6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SIX6 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIX5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SIX5 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIX3 | Achchuthan Shanmugasundram Publications for gene: SIX3 were updated from 19346217; 10369266; 17001667; 19353631; 11039582 to 19353631; 10369266; 19346217; 11039582; 17001667 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIX1 | Achchuthan Shanmugasundram Publications for gene: SIX1 were updated from 10777717 to 15141091; 12843324; 10777717; 17637804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIN3B |
Achchuthan Shanmugasundram gene: SIN3B was added gene: SIN3B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIN3B were set to 33811806 Phenotypes for gene: SIN3B were set to SIN3B-related syndromic intellectual disability and autism spectrum disorder |
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| DDG2P v3.11 | SIN3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SIN3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SIM1 | Achchuthan Shanmugasundram Publications for gene: SIM1 were updated from 28472148; 23778136; 23778139 to 28472148; 23778139; 23778136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIL1 | Achchuthan Shanmugasundram Publications for gene: SIL1 were updated from 16282978; 18285827; 17026626; 20111056; 16282977 to 17026626; 18285827; 20111056; 16282978; 16282977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIK1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SIK1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIAH1 |
Achchuthan Shanmugasundram gene: SIAH1 was added gene: SIAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIAH1 were set to 32430360 Phenotypes for gene: SIAH1 were set to SIAH1-associated neurodevelopmental disorder Mode of pathogenicity for gene: SIAH1 was set to Other |
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| DDG2P v3.11 | SHROOM3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SHROOM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SHOX | Achchuthan Shanmugasundram Publications for gene: SHOX were updated from 9590293; 15356038; 11403039; 11030412; 21712857 to 9590292; 11403039; 12116254; 17935511; 9590293; 11889214; 15356038; 21712857; 11030412 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SHOC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SHOC2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SHMT2 |
Achchuthan Shanmugasundram gene: SHMT2 was added gene: SHMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733 Phenotypes for gene: SHMT2 were set to SHMT2-related neurodevelopmental syndrome Mode of pathogenicity for gene: SHMT2 was set to Other |
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| DDG2P v3.11 | SHH | Achchuthan Shanmugasundram Publications for gene: SHH were updated from 11471164; 15103725; 12567406 to 12503095; 11471164; 15103725; 12567406 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SHANK3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK3. Publications for gene: SHANK3 were updated from 22892527; 17173049 to 17173049; 22892527 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SHANK2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SHANK1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SH3PXD2B | Achchuthan Shanmugasundram Publications for gene: SH3PXD2B were updated from 20137777; 15523657; 7158646 to 20137777; 7158646; 15523657 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SH3BP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SH3BP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SETD5 | Achchuthan Shanmugasundram Publications for gene: SETD5 were updated from 24680889 to 31656537; 27375234; 28881385; 24680889; 28905509; 25138099; 28549204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SETD2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SETD2. Publications for gene: SETD2 were updated from 24852293; 27317772 to 34978780; 27317772; 32710489; 24852293 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SETD1B |
Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1B. Publications for gene: SETD1B were updated from 29322246 to 32546566; 29322246 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SETD1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SET |
Achchuthan Shanmugasundram Source Expert Review Green was added to SET. Publications for gene: SET were updated from 28135719 to 35122673; 29688601; 28135719; 29907757 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SERAC1 |
Achchuthan Shanmugasundram gene: SERAC1 was added gene: SERAC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 32346411; 27186703; 28505671; 27331002; 28778788; 28916646; 34326751; 23707711; 29205472; 31251474; 33613893 Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 |
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| DDG2P v3.11 | SEPSECS | Achchuthan Shanmugasundram Publications for gene: SEPSECS were updated from 29464431; 26805434; 26888482 to 26805434; 29464431; 26888482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SEMA6B |
Achchuthan Shanmugasundram gene: SEMA6B was added gene: SEMA6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEMA6B were set to 34110594; 34017830; 33798445; 32169168; 34218423; 35604360; 34092044 Phenotypes for gene: SEMA6B were set to SEMA6B-related neurodevelopmental disorder Mode of pathogenicity for gene: SEMA6B was set to Other |
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| DDG2P v3.11 | SEMA3A |
Achchuthan Shanmugasundram gene: SEMA3A was added gene: SEMA3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SEMA3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEMA3A were set to 24124006; 33369061; 28075028 Phenotypes for gene: SEMA3A were set to SEMA3A-related skeletal dysplasia |
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| DDG2P v3.11 | SELENON |
Achchuthan Shanmugasundram gene: SELENON was added gene: SELENON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENON were set to 26841830; 15792869; 12192640; 28558865; 30642275; 23394784; 20937510; 32154989; 26780752; 29850975; 11528383; 15668457; 16498447; 28688748; 29172004; 31066047; 21670436; 28606403; 15961312; 25808192; 17951086 Phenotypes for gene: SELENON were set to SELENON-related myopathy |
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| DDG2P v3.11 | SELENOI |
Achchuthan Shanmugasundram Source Expert Review Green was added to SELENOI. Mode of inheritance for gene SELENOI was changed from to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENOI were updated from 28052917; 29500230 to 29500230; 28052917 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SECISBP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SECISBP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SEC61A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC61A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SEC24D |
Achchuthan Shanmugasundram Source Expert Review Green was added to SEC24D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SEC23B | Achchuthan Shanmugasundram Publications for gene: SEC23B were updated from 19561605; 19621418 to 19621418; 19561605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SEC23A | Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC23A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SDHAF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SDHAF1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SDHA | Achchuthan Shanmugasundram Mode of pathogenicity for gene SDHA was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SDCCAG8 | Achchuthan Shanmugasundram Publications for gene: SDCCAG8 were updated from 20835237 to 20835237; 22626039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCYL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCYL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SCUBE3 |
Achchuthan Shanmugasundram gene: SCUBE3 was added gene: SCUBE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCUBE3 were set to 33308444 Phenotypes for gene: SCUBE3 were set to SCUBE3-related developmental disorder |
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| DDG2P v3.11 | SCO2 | Achchuthan Shanmugasundram Publications for gene: SCO2 were updated from 10545952; 10749987; 18924171; 14994243 to 10749987; 14994243; 10545952; 18924171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCNM1 |
Achchuthan Shanmugasundram gene: SCNM1 was added gene: SCNM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNM1 were set to 36084634 Phenotypes for gene: SCNM1 were set to SCNM1-associated orofaciodigital syndrome |
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| DDG2P v3.11 | SCN8A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN8A was changed from to Other Publications for gene: SCN8A were updated from 22365152 to 22365152; 16236810 |
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| DDG2P v3.11 | SCN4A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN4A was changed from Other - please provide details in the comments to Other Publications for gene: SCN4A were updated from 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483 to 1310898; 1316765; 10599760; 10851391; 16890191; 1338909; 8388676; 17998485; 1659668; 19015492; 8580427; 11591859; 10369308; 15596759; 18203179; 1659948; 19015483; 10944223 |
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| DDG2P v3.11 | SCN3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCN3A. Mode of pathogenicity for gene SCN3A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SCN2A | Achchuthan Shanmugasundram Publications for gene: SCN2A were updated from 26291284; 23935176 to 25457084; 26291284; 31966371; 24579881; 31439038; 31204721; 28489313; 28379373; 19783390; 30062040; 16417554; 24814476; 28254201; 15028761; 26311622; 17386050; 23550958; 22591750; 19786696; 23988467; 24710820; 24659627; 30144217; 30203812; 25459969; 29635106; 23935176; 28709814; 23827426; 27781028; 25772804; 29625812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCN1B | Achchuthan Shanmugasundram Publications for gene: SCN1B were updated from 18464934 to 17020904; 9697698; 12011299; 18464934 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCN1A | Achchuthan Shanmugasundram Publications for gene: SCN1A were updated from 11359211; 21753172; 16505326; 18680191; 17000989; 12566275; 21555645 to 16505326; 18680191; 12566275; 11359211; 21555645; 21753172; 17000989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCN11A | Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN11A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCAF4 |
Achchuthan Shanmugasundram gene: SCAF4 was added gene: SCAF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCAF4 were set to 32730804 Phenotypes for gene: SCAF4 were set to SCAF4-related Neurodevelopmental Disorder |
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| DDG2P v3.11 | SC5D |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SC5D was changed from Other - please provide details in the comments to Other Publications for gene: SC5D were updated from to 12189593; 12812989 |
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| DDG2P v3.11 | SATB2 | Achchuthan Shanmugasundram Publications for gene: SATB2 were updated from 28139846; 28151491 to 30848049; 31392730; 31021519; 30575289; 17377962; 31333717; 28151491; 29739092; 35838081; 29436146; 28211976; 28139846; 26596517; 28787087; 31420882; 24363063; 30648748; 25885067; 24301056; 27774744 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SATB1 |
Achchuthan Shanmugasundram gene: SATB1 was added gene: SATB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SATB1 were set to 33057194 Phenotypes for gene: SATB1 were set to SATB1-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | SARS2 |
Achchuthan Shanmugasundram gene: SARS2 was added gene: SARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 21255763; 33751860; 24034276 Phenotypes for gene: SARS2 were set to SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845 Mode of pathogenicity for gene: SARS2 was set to Other |
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| DDG2P v3.11 | SARS |
Achchuthan Shanmugasundram gene: SARS was added gene: SARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS were set to 28236339; 34570399; 36041817 Phenotypes for gene: SARS were set to SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Autosomal dominant SARS1-related neurodevelopmental disorder Mode of pathogenicity for gene: SARS was set to Other |
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| DDG2P v3.11 | SAMD9L | Achchuthan Shanmugasundram Mode of pathogenicity for gene SAMD9L was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SAMD9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SAMD9 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SALL4 | Achchuthan Shanmugasundram Publications for gene: SALL4 were updated from to 17256792; 12395297; 26791099; 12393809 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SALL1 | Achchuthan Shanmugasundram Publications for gene: SALL1 were updated from 18000979; 11484202; 9973281; 10928856; 17431915; 14755477; 9425907; 10533063 to 18000979; 10533063; 9973281; 14755477; 17431915; 11484202; 10928856; 9425907 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SACS |
Achchuthan Shanmugasundram Source Expert Review Green was added to SACS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RYR2 |
Achchuthan Shanmugasundram gene: RYR2 was added gene: RYR2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 30170228 Phenotypes for gene: RYR2 were set to RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability Mode of pathogenicity for gene: RYR2 was set to Other |
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| DDG2P v3.11 | RUNX2 | Achchuthan Shanmugasundram Publications for gene: RUNX2 were updated from 12081718; 9182765; 9207800; 12424590; 10521292; 15952089; 10545612 to 9207800; 12081718; 12424590; 9182765; 10545612; 15952089; 10521292 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RUBCN | Achchuthan Shanmugasundram Mode of pathogenicity for gene RUBCN was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RTTN |
Achchuthan Shanmugasundram Mode of pathogenicity for gene RTTN was changed from Other - please provide details in the comments to Other Publications for gene: RTTN were updated from 22939636; 29883675; 26608784 to 26608784; 22939636; 29883675 |
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| DDG2P v3.11 | RSRC1 |
Achchuthan Shanmugasundram gene: RSRC1 was added gene: RSRC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSRC1 were set to 29522154; 32227164; 28640246 Phenotypes for gene: RSRC1 were set to INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 |
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| DDG2P v3.11 | RSPRY1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RSPRY1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RSPO4 | Achchuthan Shanmugasundram Publications for gene: RSPO4 were updated from 4702713; 17041604; 17186469; 18070203; 17914448 to 17186469; 18070203; 17041604; 17914448; 4702713 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RSPO2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RSPO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RRM2B | Achchuthan Shanmugasundram Publications for gene: RRM2B were updated from 17486094; 19616983; 23968935; 23107649; 28482374 to 23107649; 19616983; 28482374; 23968935; 17486094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RRM1 |
Achchuthan Shanmugasundram gene: RRM1 was added gene: RRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RRM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RRM1 were set to 35617047 Phenotypes for gene: RRM1 were set to RRM1-related mitochondrial DNA depletion/deletions syndrome Mode of pathogenicity for gene: RRM1 was set to Other |
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| DDG2P v3.11 | RRAS2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene RRAS2 was changed from Other - please provide details in the comments to Other Publications for gene: RRAS2 were updated from 31130282; 31130285; 24705357 to 31130282; 31130285; 24705357 |
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| DDG2P v3.11 | RRAS |
Achchuthan Shanmugasundram Source Expert Review Green was added to RRAS. Mode of pathogenicity for gene RRAS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RPS6KA3 | Achchuthan Shanmugasundram Publications for gene: RPS6KA3 were updated from 10528858; 12439904; 17717706; 9887375; 12558110; 11992250; 9837815; 10094187; 15214012; 8955270; 14986828 to 17717706; 10094187; 12439904; 8955270; 9887375; 9837815; 12558110; 10528858; 15214012; 14986828; 11992250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RPS26 |
Achchuthan Shanmugasundram gene: RPS26 was added gene: RPS26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPS26 were set to 24942156; 24675553; 25946618; 31277601; 20116044 Phenotypes for gene: RPS26 were set to DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309 |
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| DDG2P v3.11 | RPS23 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RPS23. Mode of pathogenicity for gene RPS23 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RPL26 |
Achchuthan Shanmugasundram gene: RPL26 was added gene: RPL26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL26 were set to 22431104 Phenotypes for gene: RPL26 were set to DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900 |
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| DDG2P v3.11 | RPL13 |
Achchuthan Shanmugasundram gene: RPL13 was added gene: RPL13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL13 were set to 31630789 Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature Mode of pathogenicity for gene: RPL13 was set to Other |
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| DDG2P v3.11 | RPL11 | Achchuthan Shanmugasundram Publications for gene: RPL11 were updated from 19191325; 19061985; 19773262 to 19191325; 19061985; 19773262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RPL10 |
Achchuthan Shanmugasundram gene: RPL10 was added gene: RPL10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RPL10 were set to 25846674; 29066376; 35876338; 25316788; 26290468 Phenotypes for gene: RPL10 were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998 Mode of pathogenicity for gene: RPL10 was set to Other |
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| DDG2P v3.11 | RPGRIP1L | Achchuthan Shanmugasundram Publications for gene: RPGRIP1L were updated from 18565097; 17558409; 17558407 to 17558409; 17558407; 18565097; 19574260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RPGRIP1 | Achchuthan Shanmugasundram Publications for gene: RPGRIP1 were updated from 12920076 to 12920076; 11283794; 11528500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RORB |
Achchuthan Shanmugasundram gene: RORB was added gene: RORB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RORB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RORB were set to 27352968; 32162308; 33387058 Phenotypes for gene: RORB were set to RORB-epilepsy and neurodevelopmental disorder, OMIM:618357; epilepsy, idiopathic generalized, susceptibility to, 15, MONDO:0032699 |
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| DDG2P v3.11 | RORA |
Achchuthan Shanmugasundram Source Expert Review Green was added to RORA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ROR2 | Achchuthan Shanmugasundram Publications for gene: ROR2 were updated from 10986040; 19533773; 10700182; 19461659 to 35344616; 15952209; 10932186; 10932187; 10986040; 19640924; 18831060; 10700182; 19461659; 19533773 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ROGDI | Achchuthan Shanmugasundram Publications for gene: ROGDI were updated from 16411202; 8133980; 3236364; 22424600; 22482807; 7625549 to 3236364; 7625549; 16411202; 22482807; 8133980; 22424600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ROBO4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ROBO4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RNU4ATAC |
Achchuthan Shanmugasundram Mode of pathogenicity for gene RNU4ATAC was changed from Other - please provide details in the comments to Other Publications for gene: RNU4ATAC were updated from 17666473; 21474761; 22581640; 21474760 to 22581640; 21474761; 21474760; 17666473 |
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| DDG2P v3.11 | RNU12 |
Achchuthan Shanmugasundram gene: RNU12 was added gene: RNU12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU12 were set to 27863452; 34085356 Phenotypes for gene: RNU12 were set to RNU12-related CDAGS syndrome Mode of pathogenicity for gene: RNU12 was set to Other |
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| DDG2P v3.11 | RNPC3 |
Achchuthan Shanmugasundram gene: RNPC3 was added gene: RNPC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNPC3 were set to 35792517; 29866761; 32462814; 24480542; 33650182 Phenotypes for gene: RNPC3 were set to RNPC3-associated growth hormone deficiency and short stature, OMIM:618160 |
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| DDG2P v3.11 | RNF13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RNF13. Mode of pathogenicity for gene RNF13 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RNF125 |
Achchuthan Shanmugasundram gene: RNF125 was added gene: RNF125 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF125 were set to 34196401; 25196541 Phenotypes for gene: RNF125 were set to RNF125-related intellectual disability and macrocephaly, OMIM:616260 Mode of pathogenicity for gene: RNF125 was set to Other |
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| DDG2P v3.11 | RMND1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RMND1. Mode of pathogenicity for gene RMND1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RLIM |
Achchuthan Shanmugasundram Source Expert Review Green was added to RLIM. Mode of pathogenicity for gene RLIM was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RIT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RIT1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RINT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RINT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RIN2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RIN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RIMS2 |
Achchuthan Shanmugasundram gene: RIMS2 was added gene: RIMS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIMS2 were set to 32470375 Phenotypes for gene: RIMS2 were set to RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease |
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| DDG2P v3.11 | RHOBTB2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RHOBTB2. Mode of pathogenicity for gene RHOBTB2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RFX6 | Achchuthan Shanmugasundram Publications for gene: RFX6 were updated from 18512226; 20148032; 19887127; 15592663 to 15592663; 19887127; 18512226; 20148032 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RFT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RFT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RET |
Achchuthan Shanmugasundram Mode of inheritance for gene RET was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene RET was changed from to Other Publications for gene: RET were updated from to 11788682 |
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| DDG2P v3.11 | REST |
Achchuthan Shanmugasundram gene: REST was added gene: REST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: REST were set to 36509837 Phenotypes for gene: REST were set to REST-related gingival fibromatosis and sensorineural hearing loss Mode of pathogenicity for gene: REST was set to Other |
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| DDG2P v3.11 | RECQL4 | Achchuthan Shanmugasundram Publications for gene: RECQL4 were updated from 11754069; 15964893; 9934984 to 11754069; 12952869; 12734318; 15964893; 10319867; 20503338; 12838562; 9878247; 10678659; 9934984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RBPJ |
Achchuthan Shanmugasundram Source Expert Review Green was added to RBPJ. Mode of pathogenicity for gene RBPJ was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RBM28 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RBM28 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RBM10 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RBM10. Publications for gene: RBM10 were updated from 20451169; 5410571 to 20451169; 5410571; 30189253; 30450804; 35645043 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RBFOX1 |
Achchuthan Shanmugasundram gene: RBFOX1 was added gene: RBFOX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RBFOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RBFOX1 were set to 26185613; 26749308 Phenotypes for gene: RBFOX1 were set to RBFOX1-related neurodevelopmental disorder |
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| DDG2P v3.11 | RBBP8 |
Achchuthan Shanmugasundram gene: RBBP8 was added gene: RBBP8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBBP8 were set to 26333564; 34270086; 21998596 Phenotypes for gene: RBBP8 were set to RBBP8-related microcephaly and intellectual disability, OMIM:251255 |
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| DDG2P v3.11 | RAX | Achchuthan Shanmugasundram Publications for gene: RAX were updated from 14662654; 18783408 to 18783408; 14662654 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RASA1 |
Achchuthan Shanmugasundram Source Expert Review Red was added to RASA1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | RARS2 | Achchuthan Shanmugasundram Publications for gene: RARS2 were updated from to 34085948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RARS |
Achchuthan Shanmugasundram gene: RARS was added gene: RARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS were set to 28905880; 31814314 Phenotypes for gene: RARS were set to RARS1 related hypomyelinating leukodystrophy |
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| DDG2P v3.11 | RARB | Achchuthan Shanmugasundram Publications for gene: RARB were updated from 24075189 to 27120018; 24075189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAPSN | Achchuthan Shanmugasundram Publications for gene: RAPSN were updated from 18179903 to 11791205; 18179903 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAP1B |
Achchuthan Shanmugasundram gene: RAP1B was added gene: RAP1B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAP1B were set to 32627184; 26280580 Phenotypes for gene: RAP1B were set to RAP1B-related developmental disorder Mode of pathogenicity for gene: RAP1B was set to Other |
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| DDG2P v3.11 | RANBP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RANBP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RALGDS | Achchuthan Shanmugasundram Mode of pathogenicity for gene RALGDS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RALGAPA1 |
Achchuthan Shanmugasundram gene: RALGAPA1 was added gene: RALGAPA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RALGAPA1 were set to 32004447 Phenotypes for gene: RALGAPA1 were set to RALGAPA1-related neurodevelopmental disorder |
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| DDG2P v3.11 | RALA |
Achchuthan Shanmugasundram gene: RALA was added gene: RALA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RALA were set to 30500825 Phenotypes for gene: RALA were set to RALA-related Neurodevelopmental Syndrome Mode of pathogenicity for gene: RALA was set to Other |
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| DDG2P v3.11 | RAF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RAF1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAD51C |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51C. Mode of pathogenicity for gene RAD51C was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RAD21 | Achchuthan Shanmugasundram Publications for gene: RAD21 were updated from 22633399 to 27882533; 30716475; 22633399; 32193685; 24378232; 30125677 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAC3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAC3. Mode of pathogenicity for gene RAC3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RAC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAC1. Mode of pathogenicity for gene RAC1 was changed from Other - please provide details in the comments to Other Publications for gene: RAC1 were updated from 28886345 to 35139179; 28886345 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RABL6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RABL6 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAB3GAP2 | Achchuthan Shanmugasundram Publications for gene: RAB3GAP2 were updated from 16532399 to 16532399; 29419336 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAB3GAP1 | Achchuthan Shanmugasundram Publications for gene: RAB3GAP1 were updated from 29675078; 15216543; 15696165; 10465117; 20512159 to 15216543; 29675078; 10465117; 20512159; 15696165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAB39B | Achchuthan Shanmugasundram Publications for gene: RAB39B were updated from 11050621; 20159109; 25434005 to 20159109; 25434005; 11050621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RAB14 |
Achchuthan Shanmugasundram gene: RAB14 was added gene: RAB14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB14 were set to 33057194 Phenotypes for gene: RAB14 were set to RAB14-related developmental disorder (monoallelic) Mode of pathogenicity for gene: RAB14 was set to Other |
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| DDG2P v3.11 | RAB11B |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAB11B. Mode of pathogenicity for gene RAB11B was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | RAB11A |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAB11A. Mode of pathogenicity for gene RAB11A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | QDPR | Achchuthan Shanmugasundram Publications for gene: QDPR were updated from 9341885; 9744478; 2116088; 8326489; 11153907 to 8326489; 2116088; 11153907; 9744478; 9341885 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | QARS |
Achchuthan Shanmugasundram Source Expert Review Green was added to QARS. Mode of pathogenicity for gene QARS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PYROXD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PYROXD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PYCR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PYCR2. Mode of pathogenicity for gene PYCR2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PYCR1 | Achchuthan Shanmugasundram Publications for gene: PYCR1 were updated from 18304158; 18348262; 16045708; 19576563; 19648921; 11424136 to 19648921; 18304158; 11424136; 19576563; 18348262; 16045708 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PXDN |
Achchuthan Shanmugasundram Source Expert Review Green was added to PXDN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PUS7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PUS7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PUS3 |
Achchuthan Shanmugasundram gene: PUS3 was added gene: PUS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS3 were set to 30697592; 32056211; 34415064; 31444731; 30308082; 27055666 Phenotypes for gene: PUS3 were set to PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae |
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| DDG2P v3.11 | PUS1 |
Achchuthan Shanmugasundram gene: PUS1 was added gene: PUS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 32287105; 30588737; 17056637; 26556812; 25227147 Phenotypes for gene: PUS1 were set to MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462 |
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| DDG2P v3.11 | PURA | Achchuthan Shanmugasundram Publications for gene: PURA were updated from 25342064 to 31911028; 29150892; 25342064; 29097605; 32089526; 29307761; 27148565; 25439098 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PUF60 | Achchuthan Shanmugasundram Publications for gene: PUF60 were updated from 24140112; 27804958 to 24140112; 28327570; 27804958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PTRH2 |
Achchuthan Shanmugasundram gene: PTRH2 was added gene: PTRH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 31057140; 27129381; 25574476; 25558065; 28328138 Phenotypes for gene: PTRH2 were set to NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263 |
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| DDG2P v3.11 | PTPN14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PTPN14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PTPN11 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PTPN11 was changed from Other - please provide details in the comments to Other Publications for gene: PTPN11 were updated from 12529711; 19449407; 12161469; 15384080; 15240615; 11704759; 12325025; 11992261 to 19659470; 15520399; 21910226; 15384080; 24820750; 16733669; 12325025; 19864201; 22822385; 19768645; 19054014; 11992261; 23799168; 15240615; 27484170; 11704759; 24790373; 26377839; 25884655; 25917897; 17875892; 12529711; 12161469; 21365175; 19449407; 21747628; 21677813; 17927788 |
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| DDG2P v3.11 | PTH1R | Achchuthan Shanmugasundram Publications for gene: PTH1R were updated from 10523019; 17164305; 3975110; 9649554; 9745456 to 9745456; 8703170; 15240651; 17164305; 3975110; 7701349; 10487664; 15525660; 10523019; 19061984; 9649554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PTH |
Achchuthan Shanmugasundram Source Expert Review Green was added to PTH. Publications for gene: PTH were updated from 2212001; 1302009; 10523031; 3005800 to 3005800; 1302009; 10523031; 2212001 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PTF1A | Achchuthan Shanmugasundram Publications for gene: PTF1A were updated from 24212882 to 15543146; 21749365; 10507728; 24212882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PTEN | Achchuthan Shanmugasundram Publications for gene: PTEN were updated from 23160955; 15805158; 17286265 to 9241266; 9467011; 9259288; 17286265; 11476841; 9425889; 9140396; 9832031; 10051160; 16704655; 12844284; 15805158; 12471211; 10353779; 10777358; 23160955; 11238682; 9832032 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PTDSS1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PTDSS1 was changed from Other - please provide details in the comments to Other Publications for gene: PTDSS1 were updated from 24241535 to 35224839; 24241535 |
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| DDG2P v3.11 | PTCH1 | Achchuthan Shanmugasundram Publications for gene: PTCH1 were updated from 12900905; 8681379; 22572734; 8658145 to 8658145; 11941477; 8681379; 17001668; 22572734; 12900905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PSPH | Achchuthan Shanmugasundram Publications for gene: PSPH were updated from 25152457 to 25152457; 14673469; 9222972 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PSMC5 |
Achchuthan Shanmugasundram gene: PSMC5 was added gene: PSMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMC5 were set to 33057194 Phenotypes for gene: PSMC5 were set to PSMC5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: PSMC5 was set to Other |
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| DDG2P v3.11 | PSMC1 |
Achchuthan Shanmugasundram gene: PSMC1 was added gene: PSMC1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PSMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMC1 were set to 35861243 Phenotypes for gene: PSMC1 were set to PSMC1-related neurodevelopmental disorder Mode of pathogenicity for gene: PSMC1 was set to Other |
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| DDG2P v3.11 | PSMB8 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PSMB8 was changed from Other - please provide details in the comments to Other Publications for gene: PSMB8 were updated from 21852578; 21881205; 21129723; 21953331 to 21881205; 21953331; 21852578; 21129723 |
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| DDG2P v3.11 | PSAT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PSAT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PRUNE1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PRUNE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PRSS56 | Achchuthan Shanmugasundram Publications for gene: PRSS56 were updated from 19526372; 21397065 to 21397065; 19526372 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRRX1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PRRX1 was changed from Other - please provide details in the comments to Other Publications for gene: PRRX1 were updated from 22211708; 23444262 to 23444262; 22211708 |
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| DDG2P v3.11 | PRRT2 | Achchuthan Shanmugasundram Publications for gene: PRRT2 were updated from 22543779; 22243967; 22744660 to 22543779; 21937992; 22243967; 22744660 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRR12 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PRR12. Mode of inheritance for gene PRR12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PRPS1 | Achchuthan Shanmugasundram Publications for gene: PRPS1 were updated from 22246954; 17701896; 8498830 to 22246954; 17701896; 8498830; 6243137; 15240907; 7593598; 10503584; 171280; 17701900; 8968763; 2423135; 20021999 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRPF8 |
Achchuthan Shanmugasundram gene: PRPF8 was added gene: PRPF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRPF8 were set to 33057194; 35543142; 29847639 Phenotypes for gene: PRPF8 were set to PRPF8-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | PROSER1 |
Achchuthan Shanmugasundram gene: PROSER1 was added gene: PROSER1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PROSER1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PROSER1 were set to 35229282 Phenotypes for gene: PROSER1 were set to PROSER1-related developmental disorder |
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| DDG2P v3.11 | PRMT9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PRMT9 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRKG2 |
Achchuthan Shanmugasundram gene: PRKG2 was added gene: PRKG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKG2 were set to 34782440; 36504352; 33106379 Phenotypes for gene: PRKG2 were set to PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636 |
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| DDG2P v3.11 | PRKD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRKAR1B |
Achchuthan Shanmugasundram gene: PRKAR1B was added gene: PRKAR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKAR1B were set to 33057194; 33833410 Phenotypes for gene: PRKAR1B were set to PRKAR1B-related developmental disorder Mode of pathogenicity for gene: PRKAR1B was set to Other |
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| DDG2P v3.11 | PRKAR1A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKAR1A was changed from Other - please provide details in the comments to Other Publications for gene: PRKAR1A were updated from 22464252; 21651393; 22464250 to 22464250; 22464252; 21651393 |
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| DDG2P v3.11 | PRKACB |
Achchuthan Shanmugasundram gene: PRKACB was added gene: PRKACB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACB were set to 33058759 Phenotypes for gene: PRKACB were set to PRKACB-related Multiple Congenital Malformation Syndrome Mode of pathogenicity for gene: PRKACB was set to Other |
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| DDG2P v3.11 | PRKACA |
Achchuthan Shanmugasundram gene: PRKACA was added gene: PRKACA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACA were set to 33058759 Phenotypes for gene: PRKACA were set to PRKACA-related Multiple Congenital Malformation Syndrome Mode of pathogenicity for gene: PRKACA was set to Other |
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| DDG2P v3.11 | PRIM1 |
Achchuthan Shanmugasundram gene: PRIM1 was added gene: PRIM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIM1 were set to 33060134 Phenotypes for gene: PRIM1 were set to PRIM1-related Primordial Dwarfism |
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| DDG2P v3.11 | PREPL |
Achchuthan Shanmugasundram Source Expert Review Green was added to PREPL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PRDX3 |
Achchuthan Shanmugasundram gene: PRDX3 was added gene: PRDX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDX3 were set to 35766882 Phenotypes for gene: PRDX3 were set to PRDX3-associated cerebellar ataxia |
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| DDG2P v3.11 | PRDM6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PRDM6 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRDM15 |
Achchuthan Shanmugasundram gene: PRDM15 was added gene: PRDM15 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM15 were set to 33593823 Phenotypes for gene: PRDM15 were set to PRDM15-related renal and neurodevelopmental disorder Mode of pathogenicity for gene: PRDM15 was set to Other |
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| DDG2P v3.11 | PRDM13 |
Achchuthan Shanmugasundram gene: PRDM13 was added gene: PRDM13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM13 were set to 35390279 Phenotypes for gene: PRDM13 were set to PRDM13-related olivopentocerebellar hypoplasia syndrome |
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| DDG2P v3.11 | PQBP1 | Achchuthan Shanmugasundram Publications for gene: PQBP1 were updated from 16740914; 13981686; 3177467; 16493439; 7943045; 14634649 to 13981686; 14634649; 3177467; 7943045; 16493439; 16740914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PPP3CA |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA. Mode of pathogenicity for gene PPP3CA was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PPP2R5D |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP2R5D was changed from Other - please provide details in the comments to Other Publications for gene: PPP2R5D were updated from 25533962 to 25972378; 36216457; 25533962; 26576547 |
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| DDG2P v3.11 | PPP2R1A | Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP2R1A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PPP2CA |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2CA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PPP1R21 |
Achchuthan Shanmugasundram gene: PPP1R21 was added gene: PPP1R21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R21 were set to 30520571; 28940097; 29808498; 32985083 Phenotypes for gene: PPP1R21 were set to PPP1R21-related neurodevelopmental disorder |
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| DDG2P v3.11 | PPP1R13L |
Achchuthan Shanmugasundram gene: PPP1R13L was added gene: PPP1R13L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 32666529; 28069640 Phenotypes for gene: PPP1R13L were set to PPP1R13L-related dilated cardiomyopathy |
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| DDG2P v3.11 | PPP1R12A |
Achchuthan Shanmugasundram gene: PPP1R12A was added gene: PPP1R12A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1R12A were set to 31883643 Phenotypes for gene: PPP1R12A were set to PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations |
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| DDG2P v3.11 | PPP1CB | Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP1CB was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PPM1D | Achchuthan Shanmugasundram Publications for gene: PPM1D were updated from 28343630; 28135719 to 28135719; 28343630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PPIL1 |
Achchuthan Shanmugasundram gene: PPIL1 was added gene: PPIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIL1 were set to 33220177 Phenotypes for gene: PPIL1 were set to PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly |
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| DDG2P v3.11 | PPFIBP1 |
Achchuthan Shanmugasundram gene: PPFIBP1 was added gene: PPFIBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPFIBP1 were set to 30214071; 35830857 Phenotypes for gene: PPFIBP1 were set to PPFIBP1-related neurodevelopmental disorder |
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| DDG2P v3.11 | PPA2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PPA2 was changed from Other - please provide details in the comments to Other Publications for gene: PPA2 were updated from 27523598; 27523597 to 27523598; 27523597; 34400813 |
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| DDG2P v3.11 | POU4F1 |
Achchuthan Shanmugasundram gene: POU4F1 was added gene: POU4F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POU4F1 were set to 33783914 Phenotypes for gene: POU4F1 were set to POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352 |
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| DDG2P v3.11 | POU3F3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene POU3F3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POU1F1 | Achchuthan Shanmugasundram Publications for gene: POU1F1 were updated from 12629113; 7670563; 9626142; 2634610; 16968807; 11297581; 1472057; 15928241; 1302000; 1509262; 8768831 to 1509262; 12629113; 15928241; 2634610; 9626142; 1302000; 16968807; 8768831; 11297581; 1472057; 7670563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene POT1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PORCN | Achchuthan Shanmugasundram Publications for gene: PORCN were updated from 17546031; 17546030; 18325042 to 18325042; 17546031; 17546030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POMT2 | Achchuthan Shanmugasundram Publications for gene: POMT2 were updated from 19138766; 17878207; 16701995; 15894594 to 19299310; 19138766; 17878207; 16701995; 17634419; 17923109; 15894594 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POMT1 | Achchuthan Shanmugasundram Publications for gene: POMT1 were updated from 22549409; 14678799 to 11053679; 19299310; 11320179; 17878207; 15037715; 14678799; 12369018; 31311558; 22549409; 16717220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POMP | Achchuthan Shanmugasundram Mode of pathogenicity for gene POMP was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POMK |
Achchuthan Shanmugasundram gene: POMK was added gene: POMK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMK were set to 32907597; 31833209; 24556084; 24925318 Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 |
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| DDG2P v3.11 | POMGNT1 | Achchuthan Shanmugasundram Publications for gene: POMGNT1 were updated from 18195152; 22419172 to 19299310; 12588800; 22419172; 17878207; 15236414; 11709191; 18195152; 19067344 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POLR3GL |
Achchuthan Shanmugasundram gene: POLR3GL was added gene: POLR3GL was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: POLR3GL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3GL were set to 31089205 Phenotypes for gene: POLR3GL were set to Endosteal Hyperostosis and Oligodontia |
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| DDG2P v3.11 | POLR3B |
Achchuthan Shanmugasundram Mode of inheritance for gene POLR3B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLR3B were updated from 21937992 to 21937992; 33417887 |
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| DDG2P v3.11 | POLR3A | Achchuthan Shanmugasundram Publications for gene: POLR3A were updated from 21855841; 17159124; 22036171; 12605447; 30414627 to 21855841; 12605447; 22036171; 17159124; 30414627 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POLR2A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene POLR2A was changed from Other - please provide details in the comments to Other Publications for gene: POLR2A were updated from 31353023 to 33665635; 35461703; 31353023 |
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| DDG2P v3.11 | POLR1C | Achchuthan Shanmugasundram Publications for gene: POLR1C were updated from 21131976 to 21131976; 32042905; 26151409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POLR1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to POLR1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | POLG | Achchuthan Shanmugasundram Mode of pathogenicity for gene POLG was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POLE |
Achchuthan Shanmugasundram gene: POLE was added gene: POLE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 30503519; 25948378; 35860951; 23230001 Phenotypes for gene: POLE were set to IMAGe Syndrome with variable immunodeficiency |
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| DDG2P v3.11 | POLD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene POLD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POGZ | Achchuthan Shanmugasundram Publications for gene: POGZ were updated from 26942287; 25533962 to 25533962; 30879264; 27103995; 25694107; 26739615; 31782611; 26763879; 31136090; 26942287; 32103003; 27148570; 28480548; 31347273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POC1A | Achchuthan Shanmugasundram Publications for gene: POC1A were updated from 22840364; 22440536 to 26336158; 22840363; 22440536; 22840364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PNPO |
Achchuthan Shanmugasundram gene: PNPO was added gene: PNPO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPO were set to 24266778; 26108646; 24645144; 25762494; 33981986; 24658933; 28818555; 27014579; 26303608; 26535729 Phenotypes for gene: PNPO were set to PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090 |
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| DDG2P v3.11 | PNPLA6 |
Achchuthan Shanmugasundram gene: PNPLA6 was added gene: PNPLA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 25574898; 24355708; 25480986 Phenotypes for gene: PNPLA6 were set to PNPLA6-related Disorder |
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| DDG2P v3.11 | PNPLA2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA2. Publications for gene: PNPLA2 were updated from 17187067; 22832386 to 22832386; 17187067 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PNPLA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA1. Mode of pathogenicity for gene PNPLA1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PNKP | Achchuthan Shanmugasundram Publications for gene: PNKP were updated from 25728773 to 20118933; 25728773 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PMS2 | Achchuthan Shanmugasundram Publications for gene: PMS2 were updated from to 7661930; 26318770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PMPCB |
Achchuthan Shanmugasundram Source Expert Review Green was added to PMPCB. Mode of pathogenicity for gene PMPCB was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PMM2 | Achchuthan Shanmugasundram Publications for gene: PMM2 were updated from 17307006; 10527672; 9497260; 9887379; 10922383; 10602363; 19235233; 11916319; 9140401; 9781039; 21937992 to 21937992; 9887379; 10602363; 17307006; 10527672; 9781039; 9497260; 19235233; 9140401; 10801058; 11916319; 10922383 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PLXND1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLXND1. Mode of inheritance for gene PLXND1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXND1 were updated from 24254849 to 35396997; 24254849; 26068067 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PLXNA1 |
Achchuthan Shanmugasundram gene: PLXNA1 was added gene: PLXNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLXNA1 were set to 34054129 Phenotypes for gene: PLXNA1 were set to PLXNA1-associated neurodevelopmental disorder (biallelic); PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic) |
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| DDG2P v3.11 | PLPBP |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLPBP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PLP1 | Achchuthan Shanmugasundram Publications for gene: PLP1 were updated from 17438221; 9489796; 8320699; 8956049; 14452137 to 9056547; 8723686; 1384324; 8786077; 11071483; 7573159; 14452137; 8659540; 7574457; 8956049; 2773936; 1715570; 1605230; 7683951; 1720927; 8320699; 9489796; 17438221; 8696336; 2480601; 3827224; 1707231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PLOD2 | Achchuthan Shanmugasundram Publications for gene: PLOD2 were updated from 15523624 to 35278031; 15523624 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PLOD1 | Achchuthan Shanmugasundram Publications for gene: PLOD1 were updated from 5016372; 9450904; 1345174; 8163671 to 8163671; 5016372; 1345174; 9450904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PLEC |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLEC. Publications for gene: PLEC were updated from to 35579050 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PLCH1 |
Achchuthan Shanmugasundram gene: PLCH1 was added gene: PLCH1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCH1 were set to 33820834 Phenotypes for gene: PLCH1 were set to HPE-related disorder Mode of pathogenicity for gene: PLCH1 was set to Other |
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| DDG2P v3.11 | PLCE1 | Achchuthan Shanmugasundram Publications for gene: PLCE1 were updated from 17086182; 20591883 to 20591883; 17086182 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PLCB4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLCB4. Mode of pathogenicity for gene PLCB4 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PLCB1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLCB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PLAA |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLAA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PKHD1 | Achchuthan Shanmugasundram Publications for gene: PKHD1 were updated from 11919560; 19021639; 12506140 to 19021639; 12506140; 11919560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PKD1L1 | Achchuthan Shanmugasundram Publications for gene: PKD1L1 were updated from 27616478 to 27616478; 35691949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PITX2 | Achchuthan Shanmugasundram Publications for gene: PITX2 were updated from 8944018; 11301317; 11487566 to 11301317; 15591271; 11487566; 7581385; 8944018; 22224469; 8942889 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PITX1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PITX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIP5K1C | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIP5K1C was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIK3R2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIK3R2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIK3R1 | Achchuthan Shanmugasundram Publications for gene: PIK3R1 were updated from 22351933 to 23810379; 28472977; 23810378; 22351933 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIK3CA |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PIK3CA was changed from Other - please provide details in the comments to Other Publications for gene: PIK3CA were updated from 22729224 to 22658544; 22729224 |
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| DDG2P v3.11 | PIH1D3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIH1D3. Publications for gene: PIH1D3 were updated from 28041644 to 28041644; 28176794 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIGY |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGY. Mode of pathogenicity for gene PIGY was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIGW | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGW was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGV | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGV was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGU |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGU. Mode of inheritance for gene PIGU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene PIGU was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIGT | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGT was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGS |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIGN |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGN. Mode of pathogenicity for gene PIGN was changed from Other - please provide details in the comments to Other Publications for gene: PIGN were updated from 21493957 to 21493957; 36322149 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIGM | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGM was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGK |
Achchuthan Shanmugasundram gene: PIGK was added gene: PIGK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGK were set to 32220290 Phenotypes for gene: PIGK were set to PIGK-associated Neurodevelopmental Syndrome |
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| DDG2P v3.11 | PIGH |
Achchuthan Shanmugasundram gene: PIGH was added gene: PIGH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGH were set to 29603516; 29573052 Phenotypes for gene: PIGH were set to GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010 |
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| DDG2P v3.11 | PIGG |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIEZO2 | Achchuthan Shanmugasundram Publications for gene: PIEZO2 were updated from 27653382; 27974811; 27912047 to 27974811; 27653382; 27912047; 24726473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIEZO1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIEZO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PIDD1 |
Achchuthan Shanmugasundram gene: PIDD1 was added gene: PIDD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIDD1 were set to 33414379 Phenotypes for gene: PIDD1 were set to PIDD1-related neurodevelopmental disorder |
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| DDG2P v3.11 | PIBF1 |
Achchuthan Shanmugasundram gene: PIBF1 was added gene: PIBF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 29695797; 26167768 Phenotypes for gene: PIBF1 were set to JOUBERT SYNDROME 33, OMIM:617767 |
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| DDG2P v3.11 | PI4KA |
Achchuthan Shanmugasundram gene: PI4KA was added gene: PI4KA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 34415310; 34415322; 25855803 Phenotypes for gene: PI4KA were set to PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
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| DDG2P v3.11 | PHOX2B |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PHOX2B was changed from Other - please provide details in the comments to Other Publications for gene: PHOX2B were updated from 15024693; 12438263; 16691592 to 16691592; 16888290; 12640453; 12438263; 15024693 |
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| DDG2P v3.11 | PHIP | Achchuthan Shanmugasundram Publications for gene: PHIP were updated from 29209020; 23033978 to 23033978; 29209020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PHGDH | Achchuthan Shanmugasundram Publications for gene: PHGDH were updated from 19235232; 11055895; 11034457 to 11034457; 11055895; 24836451; 19235232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PHF6 |
Achchuthan Shanmugasundram Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHF6 were updated from 15994862; 12415272; 15466013 to 35662002; 15466013; 15994862; 12415272 |
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| DDG2P v3.11 | PHF21A |
Achchuthan Shanmugasundram Source Expert Review Green was added to PHF21A. Publications for gene: PHF21A were updated from to 36843358; 36876344 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PHC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PHC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PHACTR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PHACTR1. Mode of pathogenicity for gene PHACTR1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PGM2L1 |
Achchuthan Shanmugasundram gene: PGM2L1 was added gene: PGM2L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM2L1 were set to 33979636 Phenotypes for gene: PGM2L1 were set to PGM2L1-related neurodevelopmental disorder |
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| DDG2P v3.11 | PGK1 | Achchuthan Shanmugasundram Publications for gene: PGK1 were updated from 9512313; 6933565; 6941312; 8673469; 16740138; 19157875; 1586722; 16567715; 9744480; 1547346 to 16567715; 9512313; 1586722; 8673469; 1547346; 6933565; 16740138; 19157875; 9744480; 6941312 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PGAP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PGAP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PGAP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PGAP1. Publications for gene: PGAP1 were updated from 24784135; 26050939; 25804403 to 25804403; 26050939; 24784135 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PEX7 | Achchuthan Shanmugasundram Publications for gene: PEX7 were updated from 9090381; 10083738; 12325024 to 9090381; 9090382; 12325024; 10083738; 9090383 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PEX26 | Achchuthan Shanmugasundram Publications for gene: PEX26 were updated from to 12851857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PEX2 | Achchuthan Shanmugasundram Publications for gene: PEX2 were updated from to 14630978; 10528859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PEX1 | Achchuthan Shanmugasundram Publications for gene: PEX1 were updated from to 9398847 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PET100 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PET100. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PEPD | Achchuthan Shanmugasundram Publications for gene: PEPD were updated from 17142620; 16470701; 19308961; 6637477; 1972707; 8900231; 2365824; 15309682 to 8900231; 1972707; 19308961; 17142620; 16470701; 2365824; 6637477; 15309682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PECR | Achchuthan Shanmugasundram Mode of pathogenicity for gene PECR was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDSS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDSS1. Mode of pathogenicity for gene PDSS1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PDIA6 |
Achchuthan Shanmugasundram gene: PDIA6 was added gene: PDIA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDIA6 were set to 33495992; 35856135 Phenotypes for gene: PDIA6 were set to PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy |
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| DDG2P v3.11 | PDHX | Achchuthan Shanmugasundram Publications for gene: PDHX were updated from 9399911; 9467010; 16566017; 8229524; 8584393; 11935326; 17152059; 21937992; 12557299 to 21937992; 17152059; 16566017; 9399911; 11935326; 8584393; 12557299; 8229524; 9467010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDHA1 | Achchuthan Shanmugasundram Publications for gene: PDHA1 were updated from 1909778; 8199595; 8032855; 3137520; 1907799; 2378353; 10486093; 12379317; 7573035; 1909401; 1293379; 2537010; 9686362; 8771169 to 8199595; 1909778; 1909401; 3137520; 10486093; 1293379; 12379317; 9686362; 7573035; 1907799; 2378353; 2537010; 8771169; 8032855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDGFRB |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PDGFRB was changed from Other - please provide details in the comments to Other Publications for gene: PDGFRB were updated from 26279204 to 30941910; 32291752; 29226947; 26279204; 28639748; 23731542; 25454926 |
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| DDG2P v3.11 | PDE6H |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDE6H. Publications for gene: PDE6H were updated from 15629837; 22901948 to 27472364; 22901948; 15629837 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PDE4D |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PDE4D was changed from Other - please provide details in the comments to Other Publications for gene: PDE4D were updated from 22464252; 22464250; 23033274 to 22464250; 22464252; 23033274 |
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| DDG2P v3.11 | PDE10A |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDE10A. Mode of pathogenicity for gene PDE10A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PDCD10 | Achchuthan Shanmugasundram Publications for gene: PDCD10 were updated from to 16380626; 15543491 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PCYT2 |
Achchuthan Shanmugasundram gene: PCYT2 was added gene: PCYT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 32889549; 31637422 Phenotypes for gene: PCYT2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033 |
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| DDG2P v3.11 | PCYT1A | Achchuthan Shanmugasundram Publications for gene: PCYT1A were updated from 24387990 to 24387991; 28272537; 24387990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PCGF2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PCGF2 was changed from Other - please provide details in the comments to Other Publications for gene: PCGF2 were updated from to 30526864 |
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| DDG2P v3.11 | PCDHGC4 |
Achchuthan Shanmugasundram gene: PCDHGC4 was added gene: PCDHGC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDHGC4 were set to 34244665 Phenotypes for gene: PCDHGC4 were set to PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures |
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| DDG2P v3.11 | PCDH19 | Achchuthan Shanmugasundram Publications for gene: PCDH19 were updated from 19214208; 5116697; 18469813; 19752159 to 18469813; 5116697; 19752159; 19214208 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PCDH12 |
Achchuthan Shanmugasundram gene: PCDH12 was added gene: PCDH12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 28804758; 27164683; 30178464; 29556033; 30459466 Phenotypes for gene: PCDH12 were set to DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280 |
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| DDG2P v3.11 | PCCA | Achchuthan Shanmugasundram Publications for gene: PCCA were updated from 10820128; 8295402; 8225321; 10101253; 9683601; 9887338; 12189489; 17966092; 9385377; 8411997 to 12189489; 8225321; 10101253; 8411997; 9683601; 9385377; 10820128; 9887338; 17966092; 8295402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PCBP2 |
Achchuthan Shanmugasundram gene: PCBP2 was added gene: PCBP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCBP2 were set to PCBP2-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | PCBD1 | Achchuthan Shanmugasundram Publications for gene: PCBD1 were updated from 8352282; 9585615 to 9585615; 8352282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PC | Achchuthan Shanmugasundram Publications for gene: PC were updated from 12112657; 9585612; 9585002; 19306334 to 9585612; 9585002; 19306334; 12112657 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PBX1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PBX1. Source DD-Gene2Phenotype was added to PBX1. Mode of inheritance for gene PBX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes PBX1-related developmental disorder (monoallelic) for gene: PBX1 Publications for gene: PBX1 were updated from to 35451537 Rating Changed from No List (delete) to Green List (high evidence) |
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| DDG2P v3.11 | PAX8 | Achchuthan Shanmugasundram Publications for gene: PAX8 were updated from 15356023; 15718293; 11502839; 9590296; 11232006 to 11232006; 15356023; 11502839; 15718293; 9590296 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAX6 | Achchuthan Shanmugasundram Publications for gene: PAX6 were updated from 17595013; 17148041 to 17595013; 7668281; 12721955; 9931324; 15629294; 17148041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAX3 |
Achchuthan Shanmugasundram Mode of inheritance for gene PAX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PAX3 were updated from 6859126 to 8490648; 1887852; 7726174; 8664898; 1347148; 35607853; 6859126; 26443304; 12949970; 14556253; 1303193; 1308353; 8447316; 20478267 |
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| DDG2P v3.11 | PAX2 | Achchuthan Shanmugasundram Publications for gene: PAX2 were updated from 11093271; 3377002; 2644560; 11461952; 9106533; 7795640; 9760197 to 3377002; 9106533; 9760197; 2644560; 7795640; 11461952; 11093271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAX1 |
Achchuthan Shanmugasundram gene: PAX1 was added gene: PAX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX1 were set to 23851939; 28657137; 29681087 Phenotypes for gene: PAX1 were set to OTOFACIOCERVICAL SYNDROME, OMIM:166780 |
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| DDG2P v3.11 | PARP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PARP1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAPSS2 | Achchuthan Shanmugasundram Publications for gene: PAPSS2 were updated from 22791835; 9714015; 19474428 to 9714015; 22791835; 19474428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAN2 |
Achchuthan Shanmugasundram gene: PAN2 was added gene: PAN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAN2 were set to 35304602 Phenotypes for gene: PAN2 were set to PAN2-related neurodevelopmental disorder with multiple congenital anomalies |
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| DDG2P v3.11 | PALB2 | Achchuthan Shanmugasundram Publications for gene: PALB2 were updated from 17200671; 17200672 to 17200672; 17200671 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAK3 | Achchuthan Shanmugasundram Publications for gene: PAK3 were updated from 17853471; 9332663; 8826460; 18523455; 12884430 to 12884430; 18523455; 8826460; 17853471; 24556213; 9332663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAK1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PAK1. Mode of pathogenicity for gene PAK1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PAH | Achchuthan Shanmugasundram Publications for gene: PAH were updated from 2840952; 1360590; 2884570; 1301201; 7981714; 8829656; 1769645; 3008810; 1358789; 1363838; 2574002; 8088845; 8097261; 1312992; 2564729; 1349576; 2044609; 1671881; 2014802; 2573272; 1679030; 9950317; 1301200; 8098245; 8364546; 1975559; 2309142; 1301193; 1671810; 1682235; 1709636; 2035532; 1363837; 2071149; 2816939; 1301947; 2606484; 11935335; 1997387 to 1671810; 2816939; 8098245; 1975559; 1301200; 1301947; 8829656; 1301201; 2840952; 2014802; 1709636; 2044609; 2564729; 8097261; 11935335; 2035532; 2071149; 2573272; 2309142; 9950317; 1769645; 1671881; 1360590; 1997387; 1363838; 3008810; 1301193; 1363837; 1312992; 7981714; 1358789; 8364546; 1349576; 2606484; 2574002; 1682235; 2884570; 1679030; 8088845 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAFAH1B1 | Achchuthan Shanmugasundram Publications for gene: PAFAH1B1 were updated from 14581661; 10441340; 11502906; 15007136 to 15007136; 10441340; 11502906; 14581661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PACS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PACS2. Mode of pathogenicity for gene PACS2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PACS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1. Mode of pathogenicity for gene PACS1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | P4HTM |
Achchuthan Shanmugasundram gene: P4HTM was added gene: P4HTM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P4HTM were set to 35908151; 34285383; 30940925; 32965080 Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493 |
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| DDG2P v3.11 | P4HB |
Achchuthan Shanmugasundram Source Expert Review Green was added to P4HB. Mode of pathogenicity for gene P4HB was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | P3H1 | Achchuthan Shanmugasundram Publications for gene: P3H1 were updated from 17277775; 19088120 to 19088120; 17277775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OXR1 |
Achchuthan Shanmugasundram gene: OXR1 was added gene: OXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXR1 were set to 31785787 Phenotypes for gene: OXR1 were set to Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction |
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| DDG2P v3.11 | OXCT1 | Achchuthan Shanmugasundram Publications for gene: OXCT1 were updated from 23281106; 1405472; 9671268; 10964512 to 10964512; 23281106; 1405472; 9671268 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OTX2 | Achchuthan Shanmugasundram Publications for gene: OTX2 were updated from 18854396; 20396904; 19965921; 19956411; 15846561; 18628516 to 15846561; 26974134; 19965921; 28388256; 20396904; 18628516; 19956411; 27299576; 18854396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OTULIN | Achchuthan Shanmugasundram Publications for gene: OTULIN were updated from 27686184; 27523608; 27559085 to 27523608; 27686184; 27559085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OTUD6B |
Achchuthan Shanmugasundram Source Expert Review Green was added to OTUD6B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | OTUD5 |
Achchuthan Shanmugasundram gene: OTUD5 was added gene: OTUD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTUD5 were set to 33748114; 33131077; 33523931 Phenotypes for gene: OTUD5 were set to OTUD5-associated neurodevelopmental disorder Mode of pathogenicity for gene: OTUD5 was set to Other |
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| DDG2P v3.11 | OTC | Achchuthan Shanmugasundram Publications for gene: OTC were updated from 10405441; 3170748; 1721894; 2347583; 2843770; 1353535; 1480464; 11260212; 2035531; 9056557; 2037279; 7860064 to 1480464; 7860064; 2347583; 3170748; 2037279; 9056557; 2035531; 11260212; 10405441; 1721894; 1353535; 2843770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OSGEP |
Achchuthan Shanmugasundram Source Expert Review Green was added to OSGEP. Mode of pathogenicity for gene OSGEP was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | OPHN1 | Achchuthan Shanmugasundram Publications for gene: OPHN1 were updated from 12805098; 12807966; 16158428; 20528889; 9582072 to 20528889; 12805098; 12807966; 9582072; 16158428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ONECUT1 |
Achchuthan Shanmugasundram gene: ONECUT1 was added gene: ONECUT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ONECUT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ONECUT1 were set to 34663987 Phenotypes for gene: ONECUT1 were set to ONECUT1-associated neonatal diabetes |
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| DDG2P v3.11 | OGT |
Achchuthan Shanmugasundram gene: OGT was added gene: OGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: OGT were set to OGT-related developmental disorder (hemizygous); OGT-related developmental disorder (X-linked dominant) |
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| DDG2P v3.11 | OGDHL |
Achchuthan Shanmugasundram gene: OGDHL was added gene: OGDHL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDHL were set to 34800363 Phenotypes for gene: OGDHL were set to OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia |
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| DDG2P v3.11 | OGDH |
Achchuthan Shanmugasundram gene: OGDH was added gene: OGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDH were set to 36520152; 32383294 Phenotypes for gene: OGDH were set to OGDH-related neurodevelopmental disorder Mode of pathogenicity for gene: OGDH was set to Other |
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| DDG2P v3.11 | OFD1 | Achchuthan Shanmugasundram Publications for gene: OFD1 were updated from 22353940; 19800048 to 11950863; 9198060; 15221448; 19800048; 9482645; 22353940; 16783569; 11179005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ODC1 |
Achchuthan Shanmugasundram gene: ODC1 was added gene: ODC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ODC1 were set to ODC1-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | OCRL | Achchuthan Shanmugasundram Publications for gene: OCRL were updated from 15627218 to 15627218; 9632163; 9199559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OCLN |
Achchuthan Shanmugasundram gene: OCLN was added gene: OCLN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OCLN were set to 32240828; 26689621; 20727516; 28179633 Phenotypes for gene: OCLN were set to OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria |
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| DDG2P v3.11 | NYX | Achchuthan Shanmugasundram Publications for gene: NYX were updated from 11062471; 16670814; 11062472 to 11062471; 11062472; 16670814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NUS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NUP62 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUP62. Mode of pathogenicity for gene NUP62 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NUP54 |
Achchuthan Shanmugasundram gene: NUP54 was added gene: NUP54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP54 were set to 36333996 Phenotypes for gene: NUP54 were set to NUP54-related early-onset dystonia with striatal lesions Mode of pathogenicity for gene: NUP54 was set to Other |
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| DDG2P v3.11 | NUP214 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUP214. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NUP133 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUP133. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NUP107 |
Achchuthan Shanmugasundram Source Expert Review Red was added to NUP107. Publications for gene: NUP107 were updated from 26411495; 28280135 to 28280135; 26411495 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | NUDT2 |
Achchuthan Shanmugasundram gene: NUDT2 was added gene: NUDT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDT2 were set to 30059600; 27431290; 33058507 Phenotypes for gene: NUDT2 were set to NUDT2-related Developmental Disorder |
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| DDG2P v3.11 | NTRK2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NTRK2. Mode of pathogenicity for gene NTRK2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NTRK1 | Achchuthan Shanmugasundram Publications for gene: NTRK1 were updated from 10330344; 19250380; 10233776; 10861667; 10982191; 8696348; 10090906 to 19250380; 10233776; 10330344; 8145823; 10982191; 8696348; 10090906; 10861667 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NTNG2 |
Achchuthan Shanmugasundram gene: NTNG2 was added gene: NTNG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTNG2 were set to 31372774; 31668703 Phenotypes for gene: NTNG2 were set to Developmental delay, hypotonia, and autistic features |
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| DDG2P v3.11 | NSUN2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN2. Mode of pathogenicity for gene NSUN2 was changed from Other - please provide details in the comments to Other Publications for gene: NSUN2 were updated from 22541562; 22577224; 22541559; 21063731 to 22541559; 21063731; 22577224; 22541562 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NSRP1 |
Achchuthan Shanmugasundram gene: NSRP1 was added gene: NSRP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSRP1 were set to 34385670 Phenotypes for gene: NSRP1 were set to NSRP1-associated developmental delay, epilepsy and microcephaly |
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| DDG2P v3.11 | NSMCE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NSMCE3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NSDHL | Achchuthan Shanmugasundram Publications for gene: NSDHL were updated from 11907515; 10710235 to 19377476; 11907515; 19842190; 10710235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NSD2 |
Achchuthan Shanmugasundram gene: NSD2 was added gene: NSD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NSD2 were set to NSD2-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | NSD1 | Achchuthan Shanmugasundram Publications for gene: NSD1 were updated from 12525543; 11896389; 16222665 to 16222665; 12525543; 11896389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NRXN2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NRXN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NRXN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NRXN1. Publications for gene: NRXN1 were updated from to 22405623; 30031152; 30873608; 28289584; 27195815; 23495017 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NRROS |
Achchuthan Shanmugasundram gene: NRROS was added gene: NRROS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRROS were set to 32197075 Phenotypes for gene: NRROS were set to NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification |
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| DDG2P v3.11 | NRCAM |
Achchuthan Shanmugasundram gene: NRCAM was added gene: NRCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRCAM were set to 35108495 Phenotypes for gene: NRCAM were set to NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity |
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| DDG2P v3.11 | NRAS | Achchuthan Shanmugasundram Mode of pathogenicity for gene NRAS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NR4A2 |
Achchuthan Shanmugasundram gene: NR4A2 was added gene: NR4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR4A2 were set to NR4A2-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | NR2F1 | Achchuthan Shanmugasundram Publications for gene: NR2F1 were updated from 24462372 to 24462372; 26986877 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NR1I3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NR1I3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPR3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NPR3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NPR2 | Achchuthan Shanmugasundram Publications for gene: NPR2 were updated from to 15146390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NPM1. Mode of pathogenicity for gene NPM1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NPHS2 | Achchuthan Shanmugasundram Publications for gene: NPHS2 were updated from 12464671; 8589695; 8606597; 10742096 to 10742096; 8606597; 12464671; 8589695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPHS1 | Achchuthan Shanmugasundram Publications for gene: NPHS1 were updated from 17290294; 11854170; 10577936; 9660941; 10652016 to 9660941; 10652016; 10577936; 17290294; 11854170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPHP1 | Achchuthan Shanmugasundram Publications for gene: NPHP1 were updated from 9326933; 10839884; 8852662; 9382140 to 9326933; 9382140; 8852662; 10839884 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPC2 | Achchuthan Shanmugasundram Publications for gene: NPC2 were updated from 11125141; 11567215; 12447927; 17470133 to 12447927; 17470133; 11125141; 11567215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NPC1 | Achchuthan Shanmugasundram Publications for gene: NPC1 were updated from 10480349; 11333381; 11349231; 12554680; 9245994; 11479732; 10521297; 9211849 to 11333381; 9245994; 9211849; 12554680; 10521297; 11479732; 11349231; 10480349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NOVA2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NOVA2. Publications for gene: NOVA2 were updated from to 32197073 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NOTCH3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NOTCH2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH2 was changed from Other - please provide details in the comments to Other Publications for gene: NOTCH2 were updated from 21712856; 21378989; 21378985 to 21378985; 21378989; 21712856 |
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| DDG2P v3.11 | NOTCH1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NOTCH1. Publications for gene: NOTCH1 were updated from 25132448 to 25132448; 16025100 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NOP10 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NOP10 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NONO |
Achchuthan Shanmugasundram Source Expert Review Green was added to NONO. Publications for gene: NONO were updated from 26571461; 27329731 to 36426740; 26571461; 27329731 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NOG | Achchuthan Shanmugasundram Publications for gene: NOG were updated from 17668388 to 12089654; 15770128; 17668388; 11846737; 10069712; 11545688; 20503332 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NMNAT1 | Achchuthan Shanmugasundram Publications for gene: NMNAT1 were updated from 22842227; 22842230; 12734549 to 22842229; 24830548; 26464178; 26316326; 22842227; 12734549; 24940029; 22842230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NLGN3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NLGN3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NKX6-2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NKX6-2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NKX2-5 | Achchuthan Shanmugasundram Publications for gene: NKX2-5 were updated from to 20807224; 16418214; 11714651; 19948535 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NKAP |
Achchuthan Shanmugasundram gene: NKAP was added gene: NKAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NKAP were set to 31587868 Phenotypes for gene: NKAP were set to Marfanoid Habitus and Cognitive Impairment Mode of pathogenicity for gene: NKAP was set to Other |
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| DDG2P v3.11 | NIPBL | Achchuthan Shanmugasundram Publications for gene: NIPBL were updated from 15146185; 16799922; 15146186; 15318302; 11391654 to 15318302; 15146185; 11391654; 15146186; 16799922; 35446447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NHS | Achchuthan Shanmugasundram Publications for gene: NHS were updated from 19414485; 11836358 to 15623749; 14564667; 458526; 2246772; 19414485; 11836358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NHP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NHP2. Mode of pathogenicity for gene NHP2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NHLRC2 |
Achchuthan Shanmugasundram gene: NHLRC2 was added gene: NHLRC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC2 were set to 34165204; 32435055; 29423877 Phenotypes for gene: NHLRC2 were set to NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278 |
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| DDG2P v3.11 | NFU1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene NFU1 was changed from Other - please provide details in the comments to Other Publications for gene: NFU1 were updated from 22077971; 11156534 to 11156534; 22077971 |
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| DDG2P v3.11 | NFIX | Achchuthan Shanmugasundram Publications for gene: NFIX were updated from 20673863 to 20673863; 29897170; 22301465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NFIB |
Achchuthan Shanmugasundram Source Expert Review Green was added to NFIB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NFIA |
Achchuthan Shanmugasundram Source Expert Review Green was added to NFIA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NFE2L2 |
Achchuthan Shanmugasundram gene: NFE2L2 was added gene: NFE2L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFE2L2 were set to 29018201 Phenotypes for gene: NFE2L2 were set to NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744 Mode of pathogenicity for gene: NFE2L2 was set to Other |
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| DDG2P v3.11 | NF1 | Achchuthan Shanmugasundram Publications for gene: NF1 were updated from 1745350; 9529361; 11704931 to 11258625; 1745350; 9529361; 12483293; 10712197; 1937470; 12438263; 9003501; 1302608; 1783401; 12707950; 15523642; 15520408; 7655472; 11704931; 9668168; 10677298; 30308447; 7633431; 13680360; 8317503; 8664912; 1719426; 1568247; 19449407; 19845691; 15948193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NEXMIF |
Achchuthan Shanmugasundram Source Expert Review Green was added to NEXMIF. Publications for gene: NEXMIF were updated from 27568816; 26576034; 27358180 to 33144681; 23615299; 26576034; 15466006; 27568816; 27358180 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NEU1 | Achchuthan Shanmugasundram Publications for gene: NEU1 were updated from 10767332; 8985184; 14695530; 10944856; 9054950; 11470272; 11702224; 11829139 to 11829139; 11702224; 14695530; 10944856; 10767332; 8985184; 11470272; 9054950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NEK8 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NEK8. Publications for gene: NEK8 were updated from 23418306 to 18199800; 23418306 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NEDD4L |
Achchuthan Shanmugasundram Source Expert Review Green was added to NEDD4L. Mode of pathogenicity for gene NEDD4L was changed from Other - please provide details in the comments to Other Publications for gene: NEDD4L were updated from 23934111; 28515470; 27694961 to 27694961; 23934111; 28515470 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NECTIN4 | Achchuthan Shanmugasundram Publications for gene: NECTIN4 were updated from 1646587; 21346770; 20691405 to 20691405; 21346770; 1646587 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NEB | Achchuthan Shanmugasundram Publications for gene: NEB were updated from 27105866; 27933661; 10051637 to 27105866; 10051637; 27933661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFV2 |
Achchuthan Shanmugasundram gene: NDUFV2 was added gene: NDUFV2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 26008862; 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Mode of pathogenicity for gene: NDUFV2 was set to Other |
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| DDG2P v3.11 | NDUFV1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFV1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFS8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFS8 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFB8 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NDUFB7 |
Achchuthan Shanmugasundram gene: NDUFB7 was added gene: NDUFB7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB7 were set to 33502047 Phenotypes for gene: NDUFB7 were set to NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy |
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| DDG2P v3.11 | NDUFB3 |
Achchuthan Shanmugasundram gene: NDUFB3 was added gene: NDUFB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB3 were set to 27091925; 22499348; 22277967 Phenotypes for gene: NDUFB3 were set to NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246 |
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| DDG2P v3.11 | NDUFB11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NDUFAF8 |
Achchuthan Shanmugasundram gene: NDUFAF8 was added gene: NDUFAF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF8 were set to 31866046 Phenotypes for gene: NDUFAF8 were set to NDUFAF8-related Leigh Syndrome |
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| DDG2P v3.11 | NDUFAF2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFAF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NDUFA9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFA9 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFA8 |
Achchuthan Shanmugasundram gene: NDUFA8 was added gene: NDUFA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA8 were set to 32385911 Phenotypes for gene: NDUFA8 were set to NDUFA8-related developmental disorder |
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| DDG2P v3.11 | NDUFA6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NDUFA12 |
Achchuthan Shanmugasundram gene: NDUFA12 was added gene: NDUFA12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to 33715266; 21617257 Phenotypes for gene: NDUFA12 were set to NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244 |
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| DDG2P v3.11 | NDUFA10 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA10. Mode of pathogenicity for gene NDUFA10 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NDST1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDST1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDP | Achchuthan Shanmugasundram Publications for gene: NDP were updated from 8240113; 1307245; 1303264; 8069314; 17334993; 8268931; 8790105; 7814011; 9143918; 8990009; 9382152 to 7627181; 1307245; 8790105; 7814011; 24801666; 9382152; 17334993; 8069314; 8268931; 16163268; 17296899; 9143918; 1303264; 8240113; 8990009 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDNF |
Achchuthan Shanmugasundram gene: NDNF was added gene: NDNF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NDNF were set to 31883645 Phenotypes for gene: NDNF were set to NDNF-related Congenital Hypogonadotrophic Hypogonadism |
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| DDG2P v3.11 | NDE1 | Achchuthan Shanmugasundram Publications for gene: NDE1 were updated from 21529751; 21529752 to 21529752; 21529751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NCOR1 |
Achchuthan Shanmugasundram gene: NCOR1 was added gene: NCOR1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: NCOR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCOR1 were set to 30289594; 27824329 Phenotypes for gene: NCOR1 were set to NCOR1-related developmental disorder |
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| DDG2P v3.11 | NCKAP1 |
Achchuthan Shanmugasundram gene: NCKAP1 was added gene: NCKAP1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: NCKAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCKAP1 were set to 33157009 Phenotypes for gene: NCKAP1 were set to NCKAP1-related Neurodevelopmental Disorder |
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| DDG2P v3.11 | NCDN |
Achchuthan Shanmugasundram gene: NCDN was added gene: NCDN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NCDN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NCDN were set to 33711248 Phenotypes for gene: NCDN were set to NCDN-associated neurodevelopmental disorder with seizures (monoallelic); NCDN-associated neurodevelopmental disorder with seizures (biallelic) Mode of pathogenicity for gene: NCDN was set to Other |
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| DDG2P v3.11 | NCAPG2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NCAPG2. Mode of pathogenicity for gene NCAPG2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NCAPD3 | Achchuthan Shanmugasundram Mode of inheritance for gene NCAPD3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NCAPD2 | Achchuthan Shanmugasundram Mode of inheritance for gene NCAPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NBN | Achchuthan Shanmugasundram Publications for gene: NBN were updated from 3802554; 9590180 to 9590180; 3802554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NBEA |
Achchuthan Shanmugasundram Source Expert Review Green was added to NBEA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NAXE |
Achchuthan Shanmugasundram Source Expert Review Green was added to NAXE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NAXD |
Achchuthan Shanmugasundram Source Expert Review Green was added to NAXD. Mode of inheritance for gene NAXD was changed from to BIALLELIC, autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NARS2 |
Achchuthan Shanmugasundram gene: NARS2 was added gene: NARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NARS2 were set to 32020600; 25807530; 28716262; 28077841; 25385316; 30327238; 35703918; 34415467; 25629079 Phenotypes for gene: NARS2 were set to NARS2-associated oxidative phosphorylation deficiency |
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| DDG2P v3.11 | NARS |
Achchuthan Shanmugasundram gene: NARS was added gene: NARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225; 32788587 Phenotypes for gene: NARS were set to NARS1 Neurodevelopmental Disorder (monoallelic); NARS1 Neurodevelopmental Disorder (biallelic) |
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| DDG2P v3.11 | NAPB |
Achchuthan Shanmugasundram gene: NAPB was added gene: NAPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAPB were set to 28097321; 26235277; 33189936 Phenotypes for gene: NAPB were set to NAPB-related Neurodevelopmental Disorder |
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| DDG2P v3.11 | NALCN | Achchuthan Shanmugasundram Publications for gene: NALCN were updated from 24075186 to 25683120; 24075186; 23749988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NAGS | Achchuthan Shanmugasundram Publications for gene: NAGS were updated from 12754705; 12594532 to 12594532; 12754705 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NAGLU | Achchuthan Shanmugasundram Publications for gene: NAGLU were updated from 12202988; 11068184; 10094189; 9832037; 8650226; 21937992 to 11068184; 21937992; 12202988; 10094189; 8650226; 9832037 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NAGA | Achchuthan Shanmugasundram Publications for gene: NAGA were updated from 2243144; 8071745 to 2564952; 2243144; 8071745; 11251574; 8782044 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NAE1 |
Achchuthan Shanmugasundram gene: NAE1 was added gene: NAE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAE1 were set to 36608681 Phenotypes for gene: NAE1 were set to NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration Mode of pathogenicity for gene: NAE1 was set to Other |
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| DDG2P v3.11 | NADSYN1 |
Achchuthan Shanmugasundram gene: NADSYN1 was added gene: NADSYN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADSYN1 were set to 31883644; 35491967 Phenotypes for gene: NADSYN1 were set to NADSYN1-related Congenital NAD Deficiency Disorder |
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| DDG2P v3.11 | NACC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NACC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NAA20 |
Achchuthan Shanmugasundram gene: NAA20 was added gene: NAA20 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAA20 were set to 34230638 Phenotypes for gene: NAA20 were set to NAA20-associated developmental delay and microcephaly Mode of pathogenicity for gene: NAA20 was set to Other |
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| DDG2P v3.11 | NAA15 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NAA15. Publications for gene: NAA15 were updated from 28191889; 23665959 to 28191889; 29656860; 23665959 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | NAA10 | Achchuthan Shanmugasundram Publications for gene: NAA10 were updated from 24431331 to 24431331; 30842225; 21700266; 25099252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYT1L | Achchuthan Shanmugasundram Publications for gene: MYT1L were updated from to 28859103 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYSM1 |
Achchuthan Shanmugasundram gene: MYSM1 was added gene: MYSM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYSM1 were set to 26220525; 32640305; 28115216; 33618624; 24288411 Phenotypes for gene: MYSM1 were set to MYSM1-related congenital bone marrow failure, OMIM:618116 |
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| DDG2P v3.11 | MYRF |
Achchuthan Shanmugasundram Source Expert Review Green was added to MYRF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MYPN |
Achchuthan Shanmugasundram Source Expert Review Green was added to MYPN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MYOCD |
Achchuthan Shanmugasundram Source Expert Review Green was added to MYOCD. Mode of inheritance for gene MYOCD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MYO7A | Achchuthan Shanmugasundram Publications for gene: MYO7A were updated from 7870171 to 7870171; 9171833 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYO5B | Achchuthan Shanmugasundram Publications for gene: MYO5B were updated from 18724368; 19006234 to 19006234; 18724368 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYO5A | Achchuthan Shanmugasundram Publications for gene: MYO5A were updated from 12148598 to 22711375; 9207796; 12148598 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYO18B |
Achchuthan Shanmugasundram gene: MYO18B was added gene: MYO18B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO18B were set to 25748484; 31195167; 27858739; 32184166; 32637634 Phenotypes for gene: MYO18B were set to KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM, OMIM:616549 |
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| DDG2P v3.11 | MYLPF |
Achchuthan Shanmugasundram gene: MYLPF was added gene: MYLPF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to MYLPF arthrogryposis (monoallelic); MYLPF arthrogryposis (biallelic) Mode of pathogenicity for gene: MYLPF was set to Other |
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| DDG2P v3.11 | MYLK |
Achchuthan Shanmugasundram Source Expert Review Green was added to MYLK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MYL1 |
Achchuthan Shanmugasundram gene: MYL1 was added gene: MYL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to 30215711 Phenotypes for gene: MYL1 were set to MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414 |
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| DDG2P v3.11 | MYH9 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MYH9 was changed from to Other Publications for gene: MYH9 were updated from 25077172 to 10973259; 25077172 |
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| DDG2P v3.11 | MYH8 |
Achchuthan Shanmugasundram Source Expert Review Red was added to MYH8. Publications for gene: MYH8 were updated from to 28377322; 15282353 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | MYH6 |
Achchuthan Shanmugasundram Source Expert Review Red was added to MYH6. Publications for gene: MYH6 were updated from to 15735645; 29536580; 31638415; 20656787; 29969989; 29505555; 34481090 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | MYH3 |
Achchuthan Shanmugasundram Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH3 were updated from 16642020; 29805041 to 29805041; 18695058; 16642020 |
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| DDG2P v3.11 | MYH11 | Achchuthan Shanmugasundram Publications for gene: MYH11 were updated from 29575632; 25407000 to 25407000; 29575632 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYH10 | Achchuthan Shanmugasundram Publications for gene: MYH10 were updated from 25356899; 25003005 to 25003005; 25356899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYF5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MYF5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MYCN | Achchuthan Shanmugasundram Publications for gene: MYCN were updated from 16906565; 18470948; 18671284; 15821734 to 16906565; 15821734; 18671284; 18470948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MYCBP2 |
Achchuthan Shanmugasundram gene: MYCBP2 was added gene: MYCBP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYCBP2 were set to 36200388 Phenotypes for gene: MYCBP2 were set to MYCBP2-related developmental delay with corpus callosum defects |
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| DDG2P v3.11 | MYBPC1 |
Achchuthan Shanmugasundram gene: MYBPC1 was added gene: MYBPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 31264822; 31966463; 22610851; 26661508; 25679999; 20045868 Phenotypes for gene: MYBPC1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915; MYBPC1-related arthrogryposis and myopathy |
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| DDG2P v3.11 | MUT | Achchuthan Shanmugasundram Publications for gene: MUT were updated from 1977311; 16281286; 2881300; 1670635; 7951229; 7909321; 17966092; 1968706; 11528502; 16451139 to 1670635; 11528502; 1977311; 7909321; 7951229; 2881300; 16451139; 16281286; 1968706; 17966092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MTSS1L |
Achchuthan Shanmugasundram gene: MTSS1L was added gene: MTSS1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTSS1L were set to 36067766 Phenotypes for gene: MTSS1L were set to MTSS2-associated syndromic intellectual disability Mode of pathogenicity for gene: MTSS1L was set to Other |
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| DDG2P v3.11 | MTRR | Achchuthan Shanmugasundram Publications for gene: MTRR were updated from 12555939; 15714522; 9501215 to 15714522; 9501215; 12555939 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MTR | Achchuthan Shanmugasundram Publications for gene: MTR were updated from 8968736; 9683607; 8968737; 12068375 to 8968737; 12068375; 8968736; 9683607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MTOR |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MTOR was changed from Other - please provide details in the comments to Other Publications for gene: MTOR were updated from 28892148 to 23934111; 28892148 |
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| DDG2P v3.11 | MTM1 | Achchuthan Shanmugasundram Publications for gene: MTM1 were updated from 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787 to 9285787; 8640223; 12707446; 7611280; 9450905; 12859411; 11552027; 10790201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MT-TL1 |
Achchuthan Shanmugasundram gene: MT-TL1 was added gene: MT-TL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to 34075211 Phenotypes for gene: MT-TL1 were set to MT-TL1-associated mitochondrial disorder Mode of pathogenicity for gene: MT-TL1 was set to Other |
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| DDG2P v3.11 | MSX1 | Achchuthan Shanmugasundram Publications for gene: MSX1 were updated from 12807959; 15354328 to 11369996; 15354328; 12807959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MSL2 |
Achchuthan Shanmugasundram gene: MSL2 was added gene: MSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MSL2 were set to 33057194; 31332282 Phenotypes for gene: MSL2 were set to MSL2-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | MSI1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MSI1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MRPS34 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS34. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MRPS22 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS22. Mode of pathogenicity for gene MRPS22 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MRPS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS2. Mode of pathogenicity for gene MRPS2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MRE11 | Achchuthan Shanmugasundram Publications for gene: MRE11 were updated from 10612394 to 11371508; 24332946; 15269180; 10612394 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MRAS |
Achchuthan Shanmugasundram gene: MRAS was added gene: MRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MRAS were set to 28289718; 31173466; 31108500 Phenotypes for gene: MRAS were set to NOONAN SYNDROME 11, OMIM:618499 Mode of pathogenicity for gene: MRAS was set to Other |
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| DDG2P v3.11 | MPZ |
Achchuthan Shanmugasundram gene: MPZ was added gene: MPZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MPZ were set to 15184631; 8816708; 12953275; 26310628 Phenotypes for gene: MPZ were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184 Mode of pathogenicity for gene: MPZ was set to Other |
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| DDG2P v3.11 | MPV17 | Achchuthan Shanmugasundram Publications for gene: MPV17 were updated from 18695062; 16582910 to 16582910; 18695062 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MPI | Achchuthan Shanmugasundram Publications for gene: MPI were updated from 9585601; 9525984; 3080572 to 9525984; 9585601; 3080572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MPC2 |
Achchuthan Shanmugasundram gene: MPC2 was added gene: MPC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPC2 were set to 36417180 Phenotypes for gene: MPC2 were set to MPC2-related metabolic disorder Mode of pathogenicity for gene: MPC2 was set to Other |
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| DDG2P v3.11 | MORC2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MORC2. Mode of inheritance for gene MORC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene MORC2 was changed from to Other Publications for gene: MORC2 were updated from 26497905 to 32693025; 30624633; 28771897; 26497905 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MOGS |
Achchuthan Shanmugasundram Source Expert Review Green was added to MOGS. Mode of pathogenicity for gene MOGS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MNX1 | Achchuthan Shanmugasundram Publications for gene: MNX1 were updated from 9843207; 15216552; 10631160; 16906559; 7550324 to 15216552; 16906559; 10631160; 7550324; 9843207 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MN1. Publications for gene: MN1 were updated from 21242494 to 31839203; 31834374; 21242494 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MMP15 |
Achchuthan Shanmugasundram gene: MMP15 was added gene: MMP15 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP15 were set to 34988996; 33875846 Phenotypes for gene: MMP15 were set to MMP15-related developmental disorder |
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| DDG2P v3.11 | MMP14 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MMP14 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MMP13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MMP13 was changed from Other - please provide details in the comments to Other Publications for gene: MMP13 were updated from 8412645; 19615667 to 19615667; 8412645 |
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| DDG2P v3.11 | MMGT1 |
Achchuthan Shanmugasundram gene: MMGT1 was added gene: MMGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MMGT1 were set to 33057194 Phenotypes for gene: MMGT1 were set to MMGT1-related developmental disorder Mode of pathogenicity for gene: MMGT1 was set to Other |
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| DDG2P v3.11 | MMACHC | Achchuthan Shanmugasundram Publications for gene: MMACHC were updated from 16311595; 16714133; 11320193; 20631720 to 20631720; 16311595; 16714133; 25687216; 11320193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MLC1 | Achchuthan Shanmugasundram Publications for gene: MLC1 were updated from 11254442; 12189496; 14615938; 11935341; 21624973 to 11935341; 11254442; 12189496; 21624973; 14615938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MITF |
Achchuthan Shanmugasundram Mode of inheritance for gene MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MITF were updated from 27889061 to 8490648; 9158138; 10851256; 7874167; 9856573; 8589691; 27889061 |
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| DDG2P v3.11 | MIR184 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MIR184 was changed from Other - please provide details in the comments to Other Publications for gene: MIR184 were updated from 21996275 to 24138095; 23833072; 21996275; 27195078; 25373792 |
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| DDG2P v3.11 | MIR17HG |
Achchuthan Shanmugasundram Source Expert Review Green was added to MIR17HG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MIB1 |
Achchuthan Shanmugasundram gene: MIB1 was added gene: MIB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIB1 were set to 33057194; 30322850 Phenotypes for gene: MIB1 were set to MIB1-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | MGAT2 | Achchuthan Shanmugasundram Publications for gene: MGAT2 were updated from 11228641; 20684000; 8808595 to 8808595; 11228641; 20684000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MFSD2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene MFSD2A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MFRP | Achchuthan Shanmugasundram Publications for gene: MFRP were updated from 17167404 to 15976030; 17167404; 1258954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MFN2 |
Achchuthan Shanmugasundram gene: MFN2 was added gene: MFN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MFN2 were set to 33057194 Phenotypes for gene: MFN2 were set to MFN2-related developmental disorder Mode of pathogenicity for gene: MFN2 was set to Other |
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| DDG2P v3.11 | MFF |
Achchuthan Shanmugasundram gene: MFF was added gene: MFF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFF were set to 26783368; 30581454; 22499341; 32181496 Phenotypes for gene: MFF were set to ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2, OMIM:617086 |
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| DDG2P v3.11 | METTL5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to METTL5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | METTL23 |
Achchuthan Shanmugasundram gene: METTL23 was added gene: METTL23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: METTL23 were set to 32067349; 24626631; 24501276 Phenotypes for gene: METTL23 were set to METTL23-related Intellectual Disability |
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| DDG2P v3.11 | MESP2 | Achchuthan Shanmugasundram Publications for gene: MESP2 were updated from 18485326; 15122512 to 15122512; 18485326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MESD |
Achchuthan Shanmugasundram Source Expert Review Green was added to MESD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MEOX1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MEOX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MEIS2 |
Achchuthan Shanmugasundram gene: MEIS2 was added gene: MEIS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEIS2 were set to MEIS2-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | MEGF10 | Achchuthan Shanmugasundram Publications for gene: MEGF10 were updated from 22101682; 17236770; 22371254 to 17236770; 22101682; 22371254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MEF2C | Achchuthan Shanmugasundram Publications for gene: MEF2C were updated from 20513142; 23001426; 19592390 to 19592390; 34022131; 35719119; 20513142; 23001426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MED27 |
Achchuthan Shanmugasundram gene: MED27 was added gene: MED27 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to MED27-related neurodevelopmental disorder |
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| DDG2P v3.11 | MED25 |
Achchuthan Shanmugasundram gene: MED25 was added gene: MED25 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 31602195; 25792360; 25527630; 32324310 Phenotypes for gene: MED25 were set to Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449 Mode of pathogenicity for gene: MED25 was set to Other |
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| DDG2P v3.11 | MED23 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MED23 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MED17 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MED17. Mode of pathogenicity for gene MED17 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MED13L |
Achchuthan Shanmugasundram Source Expert Review Green was added to MED13L. Publications for gene: MED13L were updated from 23403903 to 25712080; 29511999; 25758992; 25137640; 24781760; 28371282; 28645799; 29159987; 29959045; 23403903 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MED13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MED13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MED12 |
Achchuthan Shanmugasundram Mode of inheritance for gene MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MED12 were updated from 6711603 to 33244166; 17369503; 31536828; 6711603; 24123922; 17334363; 24715367; 28544239; 27980443; 27312080; 33244165; 30006928; 27286923; 27500536; 35385210 |
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| DDG2P v3.11 | MED11 |
Achchuthan Shanmugasundram gene: MED11 was added gene: MED11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED11 were set to 36001086 Phenotypes for gene: MED11 were set to MED11-associated neurodevelopmental disorder Mode of pathogenicity for gene: MED11 was set to Other |
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| DDG2P v3.11 | MECR |
Achchuthan Shanmugasundram Source Expert Review Green was added to MECR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MECP2 | Achchuthan Shanmugasundram Publications for gene: MECP2 were updated from 11402105; 11238684; 29618507 to 15689435; 10232754; 11313756; 11402105; 19034540; 11007980; 9377804; 10814718; 15034579; 10854091; 29618507; 11238684; 16966553; 12481990; 10508514; 10767337; 11022934; 16630165; 12615169; 15857422; 18989701; 10577905; 11930274; 11807877; 11214906 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MECOM |
Achchuthan Shanmugasundram Source Expert Review Green was added to MECOM. Mode of pathogenicity for gene MECOM was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MDH2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MDH2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MCPH1 | Achchuthan Shanmugasundram Publications for gene: MCPH1 were updated from 12046007; 7693575; 11857108; 16311745; 20978018 to 20978018; 7693575; 16311745; 12046007; 11857108 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MCOLN1 | Achchuthan Shanmugasundram Publications for gene: MCOLN1 were updated from 10441585; 15523648; 17239335; 10973263; 11030752 to 11030752; 10441585; 10973263; 15523648; 17239335 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MC2R | Achchuthan Shanmugasundram Publications for gene: MC2R were updated from 8227361; 18407210; 12213892; 18492762; 8636348; 8094489 to 18407210; 18492762; 8094489; 8636348; 8227361; 12213892 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MBOAT7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MBOAT7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MBD5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MBD5. Publications for gene: MBD5 were updated from to 23422940 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MAU2 |
Achchuthan Shanmugasundram gene: MAU2 was added gene: MAU2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAU2 were set to 32433956 Phenotypes for gene: MAU2 were set to MAU2 neurodevelopmental disorder |
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| DDG2P v3.11 | MATN3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MATN3 was changed from Other - please provide details in the comments to Other Publications for gene: MATN3 were updated from 15948199; 11479597; 13849708; 14729835 to 14729835; 15948199; 13849708; 11479597 |
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| DDG2P v3.11 | MAT1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAT1A. Publications for gene: MAT1A were updated from 8770875; 1527987; 10677294; 7560086; 7229751; 3812486; 1683972; 4421454 to 7560086; 4421454; 3812486; 8770875; 1527987; 7229751; 1683972; 10677294 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MAST1 |
Achchuthan Shanmugasundram gene: MAST1 was added gene: MAST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAST1 were set to MAST1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: MAST1 was set to Other |
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| DDG2P v3.11 | MASP1 | Achchuthan Shanmugasundram Publications for gene: MASP1 were updated from 17937425; 21258343; 21035106 to 21258343; 21035106; 17937425 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAPRE2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MAPRE2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAPKAPK5 |
Achchuthan Shanmugasundram gene: MAPKAPK5 was added gene: MAPKAPK5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 35575217; 33442026 Phenotypes for gene: MAPKAPK5 were set to MAPKAPK5-associated syndrome with synpolydactyly |
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| DDG2P v3.11 | MAPK8IP3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAPK8IP3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MAPK1 |
Achchuthan Shanmugasundram gene: MAPK1 was added gene: MAPK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK1 were set to 32721402 Phenotypes for gene: MAPK1 were set to MAPK1-related Neurodevelopmental Disorder Mode of pathogenicity for gene: MAPK1 was set to Other |
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| DDG2P v3.11 | MAP3K7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAP3K7. Mode of pathogenicity for gene MAP3K7 was changed from Other - please provide details in the comments to Other Publications for gene: MAP3K7 were updated from 27426734; 27426733 to 27426733; 27426734 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MAP3K1 | Achchuthan Shanmugasundram Publications for gene: MAP3K1 were updated from 5419329; 21129722; 12476449 to 21129722; 5419329; 12476449 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAP2K2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MAP2K2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAP2K1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MAP2K1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAOA |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAOA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MANBA | Achchuthan Shanmugasundram Publications for gene: MANBA were updated from 16401745; 12890191; 3762648; 1499588; 2079835; 1623631 to 1499588; 16401745; 3762648; 2079835; 12890191; 1623631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAN2C1 |
Achchuthan Shanmugasundram gene: MAN2C1 was added gene: MAN2C1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2C1 were set to 35045343 Phenotypes for gene: MAN2C1 were set to MAN2C1-associated neurodevelopmental disorder with cerebral malformations |
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| DDG2P v3.11 | MAN2B1 | Achchuthan Shanmugasundram Publications for gene: MAN2B1 were updated from 22161967; 4358183; 9158146; 9758606 to 9758606; 9158146; 4358183; 22161967 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAN2A2 |
Achchuthan Shanmugasundram gene: MAN2A2 was added gene: MAN2A2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2A2 were set to 36357165 Phenotypes for gene: MAN2A2 were set to MAN2A2-related disorder of glycosylation Mode of pathogenicity for gene: MAN2A2 was set to Other |
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| DDG2P v3.11 | MAN1B1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MAN1B1 was changed from Other - please provide details in the comments to Other Publications for gene: MAN1B1 were updated from 26577042; 24348268; 21763484; 24566669; 26279649; 21937992 to 21937992; 26279649; 24566669; 26577042; 21763484; 24348268 |
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| DDG2P v3.11 | MAMLD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAMLD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MAGEL2 | Achchuthan Shanmugasundram Publications for gene: MAGEL2 were updated from 26365340 to 27195816; 26365340; 24076603 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAFB | Achchuthan Shanmugasundram Publications for gene: MAFB were updated from 27181683 to 27181683; 22387013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAF |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MAF was changed from Other - please provide details in the comments to Other Publications for gene: MAF were updated from 16470690; 11772997 to 11772997; 24664492; 16470690 |
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| DDG2P v3.11 | MADD |
Achchuthan Shanmugasundram gene: MADD was added gene: MADD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MADD were set to 32761064 Phenotypes for gene: MADD were set to MADD-related developmental disorder |
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| DDG2P v3.11 | MACF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MACF1. Mode of pathogenicity for gene MACF1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MAB21L2 | Achchuthan Shanmugasundram Publications for gene: MAB21L2 were updated from 24906020 to 25719200; 24906020; 26116559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAB21L1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAB21L1. Publications for gene: MAB21L1 were updated from 27103078; 30487245 to 30487245; 27103078 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LZTR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LZTR1. Mode of pathogenicity for gene LZTR1 was changed from Other - please provide details in the comments to Other Publications for gene: LZTR1 were updated from 30368668; 29959388 to 29959388; 31825158; 25795793; 30859559; 30664951; 30368668; 31533111 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LYST | Achchuthan Shanmugasundram Publications for gene: LYST were updated from 8896560; 9215679; 8751863; 11857544; 10482950; 9215680 to 9215680; 11857544; 8896560; 8751863; 10482950; 9215679; 8751864 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LTBP2 | Achchuthan Shanmugasundram Publications for gene: LTBP2 were updated from 19656777; 19361779 to 20617341; 19361779; 22025892; 19656777; 20179738 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LTBP1 |
Achchuthan Shanmugasundram gene: LTBP1 was added gene: LTBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to 33991472 Phenotypes for gene: LTBP1 were set to LTBP1-related cutis laxa and craniosynostosis |
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| DDG2P v3.11 | LRRC56 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LRRC56. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LRP5 | Achchuthan Shanmugasundram Publications for gene: LRP5 were updated from 20034086; 11719191 to 15981244; 14727154; 11719191; 9056564; 15024691; 20034086; 12579474; 11741193; 9831343 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LRP4 | Achchuthan Shanmugasundram Publications for gene: LRP4 were updated from 11260233; 14577675; 9182770; 10756427; 18978656; 20381006; 12868467 to 18978656; 9182770; 11260233; 14577675; 10756427; 12868467; 20381006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LRP2 | Achchuthan Shanmugasundram Publications for gene: LRP2 were updated from 23033978 to 17632512; 29388841; 23992033; 23033978; 19577669 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LRIT3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LRIT3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LRIG2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LRIG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LRBA |
Achchuthan Shanmugasundram Source Expert Review Green was added to LRBA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LRAT |
Achchuthan Shanmugasundram Source Expert Review Green was added to LRAT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LONP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LONP1. Publications for gene: LONP1 were updated from 25574826 to 34547244; 25574826 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LNPK |
Achchuthan Shanmugasundram Source Expert Review Green was added to LNPK. Publications for gene: LNPK were updated from 30032983 to 35599435; 30032983 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LMX1B | Achchuthan Shanmugasundram Publications for gene: LMX1B were updated from 9618165; 9837817; 10854116; 9590287; 18414507 to 10854116; 9837817; 9590287; 9618165; 18414507 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LMOD3 |
Achchuthan Shanmugasundram gene: LMOD3 was added gene: LMOD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD3 were set to 31572445; 30642739; 28815944; 30291184; 25250574; 29331079; 32008911 Phenotypes for gene: LMOD3 were set to NEMALINE MYOPATHY 10, OMIM:616165 |
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| DDG2P v3.11 | LMNB2 |
Achchuthan Shanmugasundram gene: LMNB2 was added gene: LMNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNB2 were set to 33033404 Phenotypes for gene: LMNB2 were set to LMNB2-related Primary Microcephaly Mode of pathogenicity for gene: LMNB2 was set to Other |
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| DDG2P v3.11 | LMNB1 |
Achchuthan Shanmugasundram gene: LMNB1 was added gene: LMNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNB1 were set to 32910914; 33033404 Phenotypes for gene: LMNB1 were set to LMNB1-associated developmental disorder Mode of pathogenicity for gene: LMNB1 was set to Other |
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| DDG2P v3.11 | LMNA |
Achchuthan Shanmugasundram Mode of inheritance for gene LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNA were updated from to 10587585; 10655060 |
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| DDG2P v3.11 | LMBRD2 |
Achchuthan Shanmugasundram gene: LMBRD2 was added gene: LMBRD2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMBRD2 were set to 32820033 Phenotypes for gene: LMBRD2 were set to LMBRD2-associated intellectual disability Mode of pathogenicity for gene: LMBRD2 was set to Other |
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| DDG2P v3.11 | LIPT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT2. Mode of pathogenicity for gene LIPT2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LIPT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT1. Mode of pathogenicity for gene LIPT1 was changed from Other - please provide details in the comments to Other Publications for gene: LIPT1 were updated from 24341803; 27247813; 24256811 to 27247813; 24341803; 24256811 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LIPN |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIPN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LINS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LINS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LINGO1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LINGO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LIG4 | Achchuthan Shanmugasundram Publications for gene: LIG4 were updated from 16357942 to 11779494; 16357942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LIFR |
Achchuthan Shanmugasundram gene: LIFR was added gene: LIFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIFR were set to 27194968; 14740318 Phenotypes for gene: LIFR were set to Stuve-Wiedeman syndrome, OMIM:601559 |
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| DDG2P v3.11 | LIAS |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIAS. Mode of pathogenicity for gene LIAS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LHX3 | Achchuthan Shanmugasundram Publications for gene: LHX3 were updated from 18407919; 17327381; 10835633 to 18407919; 10835633; 17327381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LGI4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LGI4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LFNG | Achchuthan Shanmugasundram Mode of pathogenicity for gene LFNG was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LETM1 |
Achchuthan Shanmugasundram gene: LETM1 was added gene: LETM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214 Phenotypes for gene: LETM1 were set to LETM1-related neurodevelopmental disorder Mode of pathogenicity for gene: LETM1 was set to Other |
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| DDG2P v3.11 | LEMD3 | Achchuthan Shanmugasundram Publications for gene: LEMD3 were updated from 17223882; 19438932; 12749062; 9295073; 15489854 to 19438932; 12749062; 17223882; 15489854; 9295073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LEMD2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LEMD2. Mode of pathogenicity for gene LEMD2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LDB3 |
Achchuthan Shanmugasundram Source Expert Review Red was added to LDB3. Mode of pathogenicity for gene LDB3 was changed from Other - please provide details in the comments to Other Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | LAS1L |
Achchuthan Shanmugasundram Mode of inheritance for gene LAS1L was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Mode of pathogenicity for gene LAS1L was changed from to Other Publications for gene: LAS1L were updated from 25644381 to 25644381; 34653234 |
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| DDG2P v3.11 | LARS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LARS2. Mode of pathogenicity for gene LARS2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LARP7 | Achchuthan Shanmugasundram Publications for gene: LARP7 were updated from 26374271; 21937992; 26607181 to 21937992; 26374271; 26607181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LARGE1 | Achchuthan Shanmugasundram Publications for gene: LARGE1 were updated from 12966029; 21248746 to 17436019; 19299310; 12966029; 21248746; 19067344 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LAMP2 | Achchuthan Shanmugasundram Publications for gene: LAMP2 were updated from 12112061; 15673802; 3087571; 10972294; 15253947; 8504498; 15907287 to 15907287; 8504498; 12112061; 10972294; 15253947; 15673802; 3087571 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LAMB1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LAMB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LAMA2 | Achchuthan Shanmugasundram Publications for gene: LAMA2 were updated from 9158149; 12601554; 18700894; 16216942; 7550355; 11071490; 12552556; 11591858 to 12601554; 11591858; 9158149; 18700894; 7550355; 11071490; 16216942; 12552556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LAMA1 | Achchuthan Shanmugasundram Publications for gene: LAMA1 were updated from 21937992 to 21937992; 25105227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LAGE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene LAGE3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | L2HGDH | Achchuthan Shanmugasundram Publications for gene: L2HGDH were updated from 19911013; 15385440 to 15385440; 19911013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | L1CAM | Achchuthan Shanmugasundram Publications for gene: L1CAM were updated from 7920659; 7920660; 3460961 to 3460961; 15368500; 7920660; 9643285; 9279760; 8401576; 15148591; 1303258; 8929944; 18136715; 11857550; 26916325; 8401593; 7881431; 7920659 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KRT74 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KRT74. Mode of pathogenicity for gene KRT74 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KRAS | Achchuthan Shanmugasundram Mode of pathogenicity for gene KRAS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KPTN |
Achchuthan Shanmugasundram Source Expert Review Green was added to KPTN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KPNA7 |
Achchuthan Shanmugasundram Mode of inheritance for gene KPNA7 was changed from to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene KPNA7 was changed from to Other |
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| DDG2P v3.11 | KMT2E | Achchuthan Shanmugasundram Publications for gene: KMT2E were updated from 31079897 to 31079897; 34321323 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KMT2D | Achchuthan Shanmugasundram Publications for gene: KMT2D were updated from to 29283410; 27573763; 31935506; 28404210; 31949313; 29482518; 25944076; 24739679; 32083401; 27302555; 25142838; 30569626; 27530205; 25972376; 35060672; 20711175; 21607748; 29914387; 28295206; 21671394 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KMT2C |
Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KMT2B |
Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2B. Publications for gene: KMT2B were updated from 27992417; 27839873 to 27839873; 27992417 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KMT2A | Achchuthan Shanmugasundram Publications for gene: KMT2A were updated from to 24818805; 30841869; 22795537; 25929198; 32311999; 24886118; 27759909; 28815892; 25810209; 29203834; 27777327; 31044088; 31168168; 31250358; 30549396; 27320412 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KLHL7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KLHL7. Publications for gene: KLHL7 were updated from 27392078 to 29074562; 27392078 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KLF8 | Achchuthan Shanmugasundram Mode of inheritance for gene KLF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KLF7 |
Achchuthan Shanmugasundram gene: KLF7 was added gene: KLF7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF7 were set to 29251763 Phenotypes for gene: KLF7 were set to KLF7-related developmental disorder Mode of pathogenicity for gene: KLF7 was set to Other |
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| DDG2P v3.11 | KLF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KLF1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KITLG | Achchuthan Shanmugasundram Mode of pathogenicity for gene KITLG was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KIRREL3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KIRREL3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KIF5C |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIF5C. Mode of pathogenicity for gene KIF5C was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KIF5B |
Achchuthan Shanmugasundram gene: KIF5B was added gene: KIF5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5B were set to 36018820; 35342932 Phenotypes for gene: KIF5B were set to KIF5B-related disease Mode of pathogenicity for gene: KIF5B was set to Other |
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| DDG2P v3.11 | KIF5A |
Achchuthan Shanmugasundram gene: KIF5A was added gene: KIF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5A were set to 27463701; 27414745 Phenotypes for gene: KIF5A were set to KIF5A-associated severe neonatal myoclonus, OMIM:617235 |
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| DDG2P v3.11 | KIF3B |
Achchuthan Shanmugasundram gene: KIF3B was added gene: KIF3B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF3B were set to 32386558 Phenotypes for gene: KIF3B were set to KIF3B-related ciliopathy Mode of pathogenicity for gene: KIF3B was set to Other |
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| DDG2P v3.11 | KIF2A |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIF2A. Mode of pathogenicity for gene KIF2A was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KIF22 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene KIF22 was changed from Other - please provide details in the comments to Other Publications for gene: KIF22 were updated from 19277648; 22152678 to 22152678; 19277648 |
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| DDG2P v3.11 | KIF1A | Achchuthan Shanmugasundram Publications for gene: KIF1A were updated from 21820098 to 25253658; 25265257; 26125038; 26486474; 21820098; 30385166; 21376300; 32096284; 26354034 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KIF14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIF14. Publications for gene: KIF14 were updated from 24128419; 28892560 to 28892560; 24128419 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KIF11 | Achchuthan Shanmugasundram Publications for gene: KIF11 were updated from 15930898; 22284827 to 22284827; 15930898 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KIDINS220 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIDINS220. Mode of inheritance for gene KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KIDINS220 were updated from 27005418 to 32909676; 28934391; 27005418 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KIAA1109 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIAA1109. Mode of pathogenicity for gene KIAA1109 was changed from Other - please provide details in the comments to Other Publications for gene: KIAA1109 were updated from 25558065 to 29290337; 25558065 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KIAA0586 | Achchuthan Shanmugasundram Publications for gene: KIAA0586 were updated from 26026149; 26437029 to 26437029; 26026149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KIAA0391 |
Achchuthan Shanmugasundram gene: KIAA0391 was added gene: KIAA0391 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0391 were set to 34715011 Phenotypes for gene: KIAA0391 were set to PRORP-related mitochondrial disorder |
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| DDG2P v3.11 | KDM6B |
Achchuthan Shanmugasundram Source Expert Review Green was added to KDM6B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KDM5C | Achchuthan Shanmugasundram Publications for gene: KDM5C were updated from 18203167; 19826449; 18697827; 21575681; 15586325; 16538222; 10982473 to 18203167; 15586325; 19826449; 18697827; 21575681; 16538222; 10982473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KDM5B |
Achchuthan Shanmugasundram Source Expert Review Green was added to KDM5B. Publications for gene: KDM5B were updated from 28720891; 30409806; 24307393 to 29276005; 24307393; 30409806; 28135719; 28720891 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KDM5A | Achchuthan Shanmugasundram Mode of pathogenicity for gene KDM5A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KDM4B |
Achchuthan Shanmugasundram gene: KDM4B was added gene: KDM4B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM4B were set to 33232677 Phenotypes for gene: KDM4B were set to KDM4B-related Developmental Disorder |
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| DDG2P v3.11 | KDM3B |
Achchuthan Shanmugasundram Source Expert Review Green was added to KDM3B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KDM2B |
Achchuthan Shanmugasundram gene: KDM2B was added gene: KDM2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM2B were set to 36322151 Phenotypes for gene: KDM2B were set to KDM2B-related neurodevelopmental disorder |
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| DDG2P v3.11 | KDM1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to KDM1A. Mode of pathogenicity for gene KDM1A was changed from Other - please provide details in the comments to Other Publications for gene: KDM1A were updated from 26656649 to 29559475; 26656649 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KDELR2 |
Achchuthan Shanmugasundram gene: KDELR2 was added gene: KDELR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDELR2 were set to 33053334 Phenotypes for gene: KDELR2 were set to KDELR2-related Osteogenesis Imperfecta |
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| DDG2P v3.11 | KCTD7 | Achchuthan Shanmugasundram Publications for gene: KCTD7 were updated from 17455289; 22693283; 22748208 to 22693283; 17455289; 22748208 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCTD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCTD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNT2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNT2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNT1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNQ5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNQ5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNQ3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNQ3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNQ2 | Achchuthan Shanmugasundram Publications for gene: KCNQ2 were updated from 22275249; 12742592 to 25880994; 28832002; 27602407; 15249611; 28687180; 22926866; 25566516; 17872363; 27861786; 28728838; 25092550; 9430594; 23774309; 30107960; 11175290; 24107868; 11572947; 31199083; 28631195; 10323247; 23692823; 23621294; 31152295; 29687029; 31951342; 9425895; 16235065; 24371303; 22169383; 31418850; 30530441; 22275249; 12742592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNN3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNN3. Mode of pathogenicity for gene KCNN3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNMA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNMA1. Mode of inheritance for gene KCNMA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KCNMA1 were updated from 15937479 to 34224328; 31152168; 15937479; 27567911; 33178487; 29545233; 32132200; 29330545 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNK9 |
Achchuthan Shanmugasundram Mode of inheritance for gene KCNK9 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Mode of pathogenicity for gene KCNK9 was changed from Other - please provide details in the comments to Other |
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| DDG2P v3.11 | KCNK4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK4. Mode of pathogenicity for gene KCNK4 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNK3 |
Achchuthan Shanmugasundram gene: KCNK3 was added gene: KCNK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNK3 were set to 33057194 Phenotypes for gene: KCNK3 were set to KCNK3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: KCNK3 was set to Other |
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| DDG2P v3.11 | KCNJ8 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ8. Mode of pathogenicity for gene KCNJ8 was changed from Other - please provide details in the comments to Other Publications for gene: KCNJ8 were updated from 24176758; 24700710; 25275207 to 24700710; 24176758; 25275207 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNJ6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ6. Mode of pathogenicity for gene KCNJ6 was changed from Other - please provide details in the comments to Other Publications for gene: KCNJ6 were updated from 25620207 to 25620207; 36071510 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNJ11 | Achchuthan Shanmugasundram Publications for gene: KCNJ11 were updated from 8923010 to 8923010; 9356020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNJ10 | Achchuthan Shanmugasundram Publications for gene: KCNJ10 were updated from 20651251; 19289823; 19420365; 21849804 to 19420365; 19289823; 20651251; 21849804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNH5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH5. Publications for gene: KCNH5 were updated from 23647072 to 36307226; 23647072 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNH1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH1. Mode of pathogenicity for gene KCNH1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNE1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNE1. Mode of inheritance for gene KCNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene KCNE1 was changed from Other - please provide details in the comments to Other Publications for gene: KCNE1 were updated from to 30461122 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCND3 |
Achchuthan Shanmugasundram gene: KCND3 was added gene: KCND3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCND3 were set to KCND3-related developmental disorder (monoallelic) Mode of pathogenicity for gene: KCND3 was set to Other |
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| DDG2P v3.11 | KCNC3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNC3. Mode of pathogenicity for gene KCNC3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | KCNC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNB1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNB1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNA4 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNA4 was changed from Other - please provide details in the comments to Other Publications for gene: KCNA4 were updated from to 27582084 |
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| DDG2P v3.11 | KCNA1 |
Achchuthan Shanmugasundram gene: KCNA1 was added gene: KCNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KCNA1 were set to 30055040; 33355533; 31586945 Phenotypes for gene: KCNA1 were set to KCNA1-related epileptic encephalopathy, biallelic; KCNA1-related epileptic encephalopathy, monoallelic Mode of pathogenicity for gene: KCNA1 was set to Other |
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| DDG2P v3.11 | KBTBD13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene KBTBD13 was changed from Other - please provide details in the comments to Other Publications for gene: KBTBD13 were updated from 21104864; 21109227; 12805120 to 21109227; 21104864; 12805120 |
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| DDG2P v3.11 | KATNB1 |
Achchuthan Shanmugasundram gene: KATNB1 was added gene: KATNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KATNB1 were set to 25521378; 25521379 Phenotypes for gene: KATNB1 were set to KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS |
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| DDG2P v3.11 | KAT6B | Achchuthan Shanmugasundram Publications for gene: KAT6B were updated from 12210330; 12949978; 16761293; 12210329; 22265014 to 31871732; 12949978; 27696664; 22077973; 28696035; 24458743; 30353918; 26370006; 26334766; 25424711; 12210330; 29226580; 28758091; 16761293; 28232779; 30569622; 22265017; 30900427; 28426343; 23436491; 12210329; 22265014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KAT6A | Achchuthan Shanmugasundram Publications for gene: KAT6A were updated from 25728775; 30245513 to 29899504; 25728777; 30775047; 27133397; 30245513; 25728775; 35892268; 32041641; 31754438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KAT5 |
Achchuthan Shanmugasundram gene: KAT5 was added gene: KAT5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KAT5 were set to 32822602 Phenotypes for gene: KAT5 were set to KAT5-related Neurodevelopmental Syndrome Mode of pathogenicity for gene: KAT5 was set to Other |
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| DDG2P v3.11 | KARS | Achchuthan Shanmugasundram Publications for gene: KARS were updated from 23768514 to 20920668; 23768514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KANSL1 | Achchuthan Shanmugasundram Publications for gene: KANSL1 were updated from 22544367; 22544363 to 22544363; 22544367 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KANK1 | Achchuthan Shanmugasundram Mode of inheritance for gene KANK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | JMJD1C |
Achchuthan Shanmugasundram gene: JMJD1C was added gene: JMJD1C was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JMJD1C were set to 26181491; 31954878 Phenotypes for gene: JMJD1C were set to JMJD1C-related neurodevelopmental disorder |
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| DDG2P v3.11 | JARID2 |
Achchuthan Shanmugasundram gene: JARID2 was added gene: JARID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JARID2 were set to 33077894; 35533077 Phenotypes for gene: JARID2 were set to JARID2-related Neurodevelopmental Disorder |
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| DDG2P v3.11 | JAM3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to JAM3. Publications for gene: JAM3 were updated from 21109224; 23255084 to 23255084; 21109224 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | JAK3 | Achchuthan Shanmugasundram Publications for gene: JAK3 were updated from 10982185; 7659163; 11741532; 7481768 to 7659163; 10982185; 7481768; 11741532 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | JAG2 |
Achchuthan Shanmugasundram gene: JAG2 was added gene: JAG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAG2 were set to 33861953 Phenotypes for gene: JAG2 were set to JAG2-related muscular dystrophy |
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| DDG2P v3.11 | JAG1 | Achchuthan Shanmugasundram Publications for gene: JAG1 were updated from to 35761784 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IVD | Achchuthan Shanmugasundram Publications for gene: IVD were updated from 2063866; 15486829; 10677295; 1310317 to 15486829; 1310317; 10677295; 2063866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ITPR1 | Achchuthan Shanmugasundram Publications for gene: ITPR1 were updated from 27108798; 27108797 to 27062503; 22986007; 27108797; 27108798 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ITGA8 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ITGA8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ITCH |
Achchuthan Shanmugasundram Source Expert Review Green was added to ITCH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ISPD | Achchuthan Shanmugasundram Publications for gene: ISPD were updated from 23217329; 22522420; 22522421; 7604843; 9492098 to 22522420; 7604843; 22522421; 9492098; 23217329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IRX5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to IRX5. Mode of pathogenicity for gene IRX5 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | IRF6 | Achchuthan Shanmugasundram Publications for gene: IRF6 were updated from 12219090; 20803643 to 12920575; 19842205; 12219090; 20803643; 18478600; 14618417; 14757865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IRF2BPL |
Achchuthan Shanmugasundram Source Expert Review Green was added to IRF2BPL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | IREB2 |
Achchuthan Shanmugasundram gene: IREB2 was added gene: IREB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IREB2 were set to 35602653; 31243445; 30915432 Phenotypes for gene: IREB2 were set to IREB2-related neurodevelopmental disorder |
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| DDG2P v3.11 | IQSEC2 |
Achchuthan Shanmugasundram Mode of inheritance for gene IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IQSEC2 were updated from 3177466; 7943039; 20473311 to 29026562; 24306141; 26733290; 26793055; 27665735; 30206421; 23674175; 31415821; 3177466; 31490346; 7943039; 31829726; 28295038; 20473311; 28815955; 30666632 |
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| DDG2P v3.11 | IQSEC1 |
Achchuthan Shanmugasundram gene: IQSEC1 was added gene: IQSEC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQSEC1 were set to 31607425 Phenotypes for gene: IQSEC1 were set to Intellectual Disability, Developmental Delay, and Short Stature Mode of pathogenicity for gene: IQSEC1 was set to Other |
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| DDG2P v3.11 | IPO8 |
Achchuthan Shanmugasundram gene: IPO8 was added gene: IPO8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IPO8 were set to 34010604; 34010605 Phenotypes for gene: IPO8 were set to IPO8-related syndromic thoracic aortic aneurysm |
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| DDG2P v3.11 | INPP5K |
Achchuthan Shanmugasundram Source Expert Review Green was added to INPP5K. Mode of pathogenicity for gene INPP5K was changed from Other - please provide details in the comments to Other Publications for gene: INPP5K were updated from 28190459; 28190456 to 28190459; 28190456; 28940338 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | INPP5E | Achchuthan Shanmugasundram Publications for gene: INPP5E were updated from 19668216 to 19668215; 19668216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IL1RAPL1 | Achchuthan Shanmugasundram Publications for gene: IL1RAPL1 were updated from 16470793; 18801879; 10471494; 19012350 to 10471494; 18801879; 16470793; 19012350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IL11 | Achchuthan Shanmugasundram Mode of pathogenicity for gene IL11 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IKBKG | Achchuthan Shanmugasundram Publications for gene: IKBKG were updated from 16818673 to 10839543; 11242109; 16228229; 9450877; 11224521; 15356572; 12045264; 14726382; 15577852; 117248; 16818673; 11047757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IHH |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IHH was changed from Other - please provide details in the comments to Other Publications for gene: IHH were updated from 12632327 to 12384778; 12525541; 16871364; 19277064; 18629882; 12632327; 11455389 |
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| DDG2P v3.11 | IGHMBP2 | Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were updated from 11528396; 15290238 to 15290238; 11528396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IGFBP7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to IGFBP7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | IGF1R | Achchuthan Shanmugasundram Publications for gene: IGF1R were updated from 14657428 to 15928254; 14657428; 22130793; 17264177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IGF1 | Achchuthan Shanmugasundram Publications for gene: IGF1 were updated from 15769976; 8857020; 14684690 to 15769976; 14684690; 8857020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IGBP1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IGBP1 was changed from Other - please provide details in the comments to Other Publications for gene: IGBP1 were updated from to 23871722 |
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| DDG2P v3.11 | IFT80 | Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT80 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IFT74 |
Achchuthan Shanmugasundram gene: IFT74 was added gene: IFT74 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776; 33748949; 32144365; 33531668 Phenotypes for gene: IFT74 were set to IFT74-associated ciliopathy, OMIM:617119 |
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| DDG2P v3.11 | IFT43 | Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT43 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IFT122 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT122 was changed from Other - please provide details in the comments to Other Publications for gene: IFT122 were updated from 19760620; 17022080; 20493458 to 17022080; 19760620; 20493458 |
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| DDG2P v3.11 | IFITM5 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IFITM5 was changed from Other - please provide details in the comments to Other Publications for gene: IFITM5 were updated from 22863195; 22863190 to 22863190; 22863195 |
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| DDG2P v3.11 | IFIH1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IFIH1 was changed from Other - please provide details in the comments to Other Publications for gene: IFIH1 were updated from 25620204 to 24995871; 25620204 |
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| DDG2P v3.11 | IDUA | Achchuthan Shanmugasundram Publications for gene: IDUA were updated from 8328452; 6821579; 7951228; 8664897; 10735634 to 8328452; 7951228; 10466419; 10735634; 4221470; 6821579; 7550232; 9391892; 8664897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IDS | Achchuthan Shanmugasundram Publications for gene: IDS were updated from 1639384; 1303211; 7581397; 1355630; 1550586; 12794697; 1284597; 8940265; 8364592 to 1550586; 1303211; 1284597; 8364592; 7581397; 1355630; 8940265; 12794697; 1639384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IARS2 | Achchuthan Shanmugasundram Publications for gene: IARS2 were updated from 25130867 to 25130867; 28328135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IARS |
Achchuthan Shanmugasundram Source Expert Review Green was added to IARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HYLS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene HYLS1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HYDIN | Achchuthan Shanmugasundram Publications for gene: HYDIN were updated from 14985390; 23022101 to 23022101; 14985390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HYAL2 |
Achchuthan Shanmugasundram gene: HYAL2 was added gene: HYAL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 28081210; 34906488 Phenotypes for gene: HYAL2 were set to HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies |
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| DDG2P v3.11 | HUWE1 |
Achchuthan Shanmugasundram Mode of inheritance for gene HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene HUWE1 was changed from Other - please provide details in the comments to Other Publications for gene: HUWE1 were updated from 7943042; 18252223 to 7943042; 29180823; 18252223; 23721686 |
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| DDG2P v3.11 | HSPG2 | Achchuthan Shanmugasundram Publications for gene: HSPG2 were updated from 11279527 to 11101850; 11941538; 11279527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HSF4 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HSF4 was changed from Other - please provide details in the comments to Other Publications for gene: HSF4 were updated from 12089525 to 16876512; 12089525; 29243736; 24637349 |
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| DDG2P v3.11 | HSD17B4 | Achchuthan Shanmugasundram Publications for gene: HSD17B4 were updated from 9482850; 9345094; 11992265; 11743515; 10400999; 2921319 to 9345094; 10400999; 11992265; 11743515; 9482850; 4061497; 2921319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HSD17B10 | Achchuthan Shanmugasundram Publications for gene: HSD17B10 were updated from 10521307 to 10521307; 12555940; 16148061; 12696021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HS2ST1 |
Achchuthan Shanmugasundram gene: HS2ST1 was added gene: HS2ST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to HS2ST1-related Developmental Disorder |
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| DDG2P v3.11 | HRAS |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HRAS was changed from Other - please provide details in the comments to Other Publications for gene: HRAS were updated from 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316 to 17054105; 16835863; 18039947; 18247425; 17412879; 17468812; 16170316; 19995790; 16443854; 17056636 |
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| DDG2P v3.11 | HR | Achchuthan Shanmugasundram Publications for gene: HR were updated from 9856480; 10469319; 10205263; 12271294; 10051399 to 19897589; 17680008; 9856480; 9758627; 9445480; 10051399; 10777357; 10205263; 10469319; 12271294; 9463324 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HPSE2 | Achchuthan Shanmugasundram Publications for gene: HPSE2 were updated from 11446407; 19669792; 20560210; 19839856 to 19839856; 19669792; 11446407; 20560210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HPS1 | Achchuthan Shanmugasundram Publications for gene: HPS1 were updated from 9705234; 8896559; 10971344; 8274781; 9497254 to 9705234; 9497254; 10971344; 8274781; 8896559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HPRT1 | Achchuthan Shanmugasundram Publications for gene: HPRT1 were updated from to 23975452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HPDL |
Achchuthan Shanmugasundram gene: HPDL was added gene: HPDL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to HPDL Neurodegenerative Disease |
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| DDG2P v3.11 | HPD |
Achchuthan Shanmugasundram Source Expert Review Green was added to HPD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HOXD13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HOXD13 was changed from Other - please provide details in the comments to Other Publications for gene: HOXD13 were updated from 12649808 to 12900906; 12414828; 17236141; 9758628; 12649808; 8817328; 19060004 |
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| DDG2P v3.11 | HOXB1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HOXB1. Mode of pathogenicity for gene HOXB1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HOXA1 | Achchuthan Shanmugasundram Publications for gene: HOXA1 were updated from 18412118; 16155570 to 18412118; 16155570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HNRNPU | Achchuthan Shanmugasundram Publications for gene: HNRNPU were updated from 23934111 to 23934111; 35138025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HNRNPK | Achchuthan Shanmugasundram Publications for gene: HNRNPK were updated from 29904177; 30998304 to 30998304; 29904177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HNRNPH2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HNRNPH2. Mode of pathogenicity for gene HNRNPH2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HNRNPH1 |
Achchuthan Shanmugasundram gene: HNRNPH1 was added gene: HNRNPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPH1 were set to 29938792; 32335897 Phenotypes for gene: HNRNPH1 were set to HNRNPH1-related neurodevelopmental disorder |
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| DDG2P v3.11 | HNRNPD |
Achchuthan Shanmugasundram gene: HNRNPD was added gene: HNRNPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPD were set to 33057194 Phenotypes for gene: HNRNPD were set to HNRNPD-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | HNRNPA2B1 |
Achchuthan Shanmugasundram gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPA2B1 were set to 35484142 Phenotypes for gene: HNRNPA2B1 were set to Early-onset oculopharyngeal muscular dystrophy |
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| DDG2P v3.11 | HNF4A | Achchuthan Shanmugasundram Publications for gene: HNF4A were updated from 24285859 to 8945471; 24285859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HNF1B | Achchuthan Shanmugasundram Publications for gene: HNF1B were updated from 9398836; 11085914; 10484768; 15068978; 17440011; 11562418; 11317673; 10720943; 12675839; 15181075 to 11085914; 9398836; 12675839; 17440011; 15181075; 10484768; 10720943; 15068978; 11562418; 11317673 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HMX1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HMX1. Publications for gene: HMX1 were updated from 18423520 to 18423520; 25574057; 29140751 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HMGCS2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HMGCS2 was changed from Other - please provide details in the comments to Other Publications for gene: HMGCS2 were updated from 11479731; 9727719; 12647205; 11228257; 9337379 to 9337379; 12647205; 11228257; 9727719; 11479731 |
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| DDG2P v3.11 | HMGCL | Achchuthan Shanmugasundram Publications for gene: HMGCL were updated from 9463337; 8617516; 11129331 to 11129331; 9463337; 8617516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HMGB1 |
Achchuthan Shanmugasundram gene: HMGB1 was added gene: HMGB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HMGB1 were set to 36755093; 34164801 Phenotypes for gene: HMGB1 were set to HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome; HMGB1-related intellectual disability |
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| DDG2P v3.11 | HK1 |
Achchuthan Shanmugasundram gene: HK1 was added gene: HK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HK1 were set to HK1-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | HIVEP2 | Achchuthan Shanmugasundram Publications for gene: HIVEP2 were updated from 26153216; 27003583 to 27003583; 26153216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HIST3H3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene HIST3H3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HIST1H4J |
Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4J. Mode of pathogenicity for gene HIST1H4J was changed from Other - please provide details in the comments to Other Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HIST1H4C |
Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4C. Mode of pathogenicity for gene HIST1H4C was changed from Other - please provide details in the comments to Other Publications for gene: HIST1H4C were updated from 100000; 28920961 to 100000; 28920961 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HIST1H2AC |
Achchuthan Shanmugasundram gene: HIST1H2AC was added gene: HIST1H2AC was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: HIST1H2AC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H2AC were set to HIST1H2AC-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | HIST1H1E |
Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H1E. Publications for gene: HIST1H1E were updated from 28475857 to 28475857; 31400068 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HIRA |
Achchuthan Shanmugasundram gene: HIRA was added gene: HIRA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIRA were set to 33417013 Phenotypes for gene: HIRA were set to HIRA-related neurodevelopmental disorder |
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| DDG2P v3.11 | HGSNAT | Achchuthan Shanmugasundram Publications for gene: HGSNAT were updated from 18024218; 18518886; 16960811; 20825431; 17033958 to 18518886; 16960811; 20825431; 17033958; 18024218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HEXB | Achchuthan Shanmugasundram Publications for gene: HEXB were updated from 571983; 9888387; 8045559; 2921040; 3014997; 2973515; 18758829; 7633435; 10724; 1531140 to 9888387; 8045559; 3014997; 571983; 2973515; 18758829; 1531140; 2921040; 7633435; 10724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HEXA | Achchuthan Shanmugasundram Publications for gene: HEXA were updated from 1302612; 21937992; 1301958; 2934978; 2954459; 3362213; 9401004; 9603435; 1833974; 1825014; 15108204; 3754980; 1322637; 1301190; 2976595; 6959123; 1384323; 2961848; 9272736; 1483696; 2848800; 1837283; 2522679; 1827945; 1532289; 2140574; 14648242; 8757036; 8490625 to 2140574; 14648242; 9401004; 2848800; 6959123; 1483696; 21937992; 2934978; 1532289; 9272736; 1301190; 8757036; 2522679; 1322637; 2976595; 1384323; 15108204; 1301958; 1827945; 2961848; 1833974; 1837283; 3362213; 9603435; 8490625; 2954459; 1825014; 1302612; 3754980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HESX1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HESX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HERC2 |
Achchuthan Shanmugasundram gene: HERC2 was added gene: HERC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC2 were set to 32571899; 23243086; 30902390; 23065719 Phenotypes for gene: HERC2 were set to HERC2-related neurodevelopmental disorder, OMIM:615516 |
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| DDG2P v3.11 | HERC1 |
Achchuthan Shanmugasundram gene: HERC1 was added gene: HERC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117 Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011 |
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| DDG2P v3.11 | HECW2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene HECW2 was changed from Other - please provide details in the comments to Other Publications for gene: HECW2 were updated from 27334371; 27389779 to 35753050; 34321324; 27334371; 27389779 |
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| DDG2P v3.11 | HDAC8 | Achchuthan Shanmugasundram Publications for gene: HDAC8 were updated from 22885700 to 29279609; 25102094; 29991052; 22885700; 29519750; 26671848; 24403048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HDAC4 | Achchuthan Shanmugasundram Publications for gene: HDAC4 were updated from 20691407 to 33537682; 20691407; 30848064 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HCN1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene HCN1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HCFC1 | Achchuthan Shanmugasundram Publications for gene: HCFC1 were updated from 24011988 to 1870093; 23000143; 24011988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HAX1 | Achchuthan Shanmugasundram Publications for gene: HAX1 were updated from 18337561; 19036076; 18611981; 17187068 to 18611981; 18337561; 19036076; 17187068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene HARS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HACE1 | Achchuthan Shanmugasundram Publications for gene: HACE1 were updated from 26424145; 26437029 to 26437029; 26424145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HACD1 |
Achchuthan Shanmugasundram gene: HACD1 was added gene: HACD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACD1 were set to 32426512; 33354762; 23933735 Phenotypes for gene: HACD1 were set to HACD1-related congenital myopathy |
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| DDG2P v3.11 | HAAO |
Achchuthan Shanmugasundram gene: HAAO was added gene: HAAO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 33942433; 28792876 Phenotypes for gene: HAAO were set to NAD deficiency disorder |
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| DDG2P v3.11 | H3F3B |
Achchuthan Shanmugasundram gene: H3F3B was added gene: H3F3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: H3F3B were set to 33268356 Phenotypes for gene: H3F3B were set to H3F3B associated neurodevelopmental disorder Mode of pathogenicity for gene: H3F3B was set to Other |
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| DDG2P v3.11 | H3F3A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene H3F3A was changed from Other - please provide details in the comments to Other Publications for gene: H3F3A were updated from 31942419; 33057194 to 31942419; 33057194; 33268356 |
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| DDG2P v3.11 | GZF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GZF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GUSB | Achchuthan Shanmugasundram Publications for gene: GUSB were updated from 12522561; 1702266; 9490302; 6811712; 7633414; 1833732; 7573038; 4265197 to 7633414; 6811712; 12522561; 9490302; 1702266; 7573038; 1833732; 4265197 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GTPBP2 |
Achchuthan Shanmugasundram gene: GTPBP2 was added gene: GTPBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 26675814; 30790272; 29449720 Phenotypes for gene: GTPBP2 were set to JABERI-ELAHI SYNDROME, OMIM:617988 |
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| DDG2P v3.11 | GTF2IRD1 |
Achchuthan Shanmugasundram gene: GTF2IRD1 was added gene: GTF2IRD1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GTF2IRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2IRD1 were set to 36308390 Phenotypes for gene: GTF2IRD1 were set to GTF2IRD1-related neurodevelopmental disorder Mode of pathogenicity for gene: GTF2IRD1 was set to Other |
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| DDG2P v3.11 | GTF2E2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GTF2E2. Mode of pathogenicity for gene GTF2E2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GSPT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GSPT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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