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| 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 | 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 | 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 | 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 | 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 | 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 | ZIC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ZIC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | WDR37 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WDR37 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | TMEM135 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TMEM135 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TK2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TK2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | TDRD7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TDRD7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | STIM1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene STIM1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | SOX17 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SOX17 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | SLC4A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC4A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | SH3BP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SH3BP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | SEC61A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC61A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | SCN11A | Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN11A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | PRMT9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PRMT9 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | PPP1CB | Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP1CB was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | POU3F3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene POU3F3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | PGAP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PGAP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | PARP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PARP1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | NSMCE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NSMCE3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | NR1I3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NR1I3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | NOP10 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NOP10 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | NDUFA9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFA9 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | MSI1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MSI1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | MFSD2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene MFSD2A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | LAGE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene LAGE3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | KDM5A | Achchuthan Shanmugasundram Mode of pathogenicity for gene KDM5A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | KCNQ3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNQ3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | IL11 | Achchuthan Shanmugasundram Mode of pathogenicity for gene IL11 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | HYLS1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene HYLS1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | HCN1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene HCN1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 | 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 | GRIN2D |
Achchuthan Shanmugasundram Source Expert Review Green was added to GRIN2D. Mode of pathogenicity for gene GRIN2D 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 | GRIN1 |
Achchuthan Shanmugasundram Mode of inheritance for gene GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GRIN1 were updated from 23934111; 27164704 to 27164704; 35393335; 34611970; 23934111; 26350515; 28051072 |
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| DDG2P v3.11 | GRIK2 |
Achchuthan Shanmugasundram Mode of inheritance for gene GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GRIK2 were updated from 17847003 to 17847003; 34375587 |
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| DDG2P v3.11 | GRID2 |
Achchuthan Shanmugasundram gene: GRID2 was added gene: GRID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRID2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GRID2 were set to 31183084; 25841024; 24078737; 23611888; 28856174 Phenotypes for gene: GRID2 were set to GRID2-related cerebellar ataxia, biallelic; GRID2-related cerebellar ataxia, monoallelic |
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| DDG2P v3.11 | GRIA4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GRIA4 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GRHL2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GRHL2. Mode of pathogenicity for gene GRHL2 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 | GOT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GOT2. Mode of pathogenicity for gene GOT2 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 | GOLGA2 |
Achchuthan Shanmugasundram gene: GOLGA2 was added gene: GOLGA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOLGA2 were set to 26742501; 34424553 Phenotypes for gene: GOLGA2 were set to GOLGA2-related myopathy, seizures and microcephaly |
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| DDG2P v3.11 | GNE |
Achchuthan Shanmugasundram gene: GNE was added gene: GNE was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GNE were set to 11486897; 35121750; 11326336; 10356312; 29923088; 27142465; 10330343; 32053088 Phenotypes for gene: GNE were set to GNE-associated congenital myopathy; GNE-associated sialuria, OMIM:269921 Mode of pathogenicity for gene: GNE was set to Other |
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| DDG2P v3.11 | GNB2 |
Achchuthan Shanmugasundram gene: GNB2 was added gene: GNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB2 were set to 28219978; 33057194; 34183358; 31698099 Phenotypes for gene: GNB2 were set to GNB2-related developmental disorder (monoallelic) Mode of pathogenicity for gene: GNB2 was set to Other |
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| DDG2P v3.11 | GNB1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GNB1 was changed from Other - please provide details in the comments to Other Publications for gene: GNB1 were updated from 27108799; 30194818 to 30194818; 27108799 |
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| DDG2P v3.11 | GNAQ |
Achchuthan Shanmugasundram Source Expert Review Green was added to GNAQ. Mode of pathogenicity for gene GNAQ 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 | GNAI3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GNAI3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GNA14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GNA14. Mode of pathogenicity for gene GNA14 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 | GNA11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GNA11. Mode of pathogenicity for gene GNA11 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 | GMNN |
Achchuthan Shanmugasundram Source Expert Review Green was added to GMNN. Mode of pathogenicity for gene GMNN 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 | GLUL |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUL was changed from Other - please provide details in the comments to Other Publications for gene: GLUL were updated from 16267323; 21353613 to 21353613; 16267323 |
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| DDG2P v3.11 | GLUD1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUD1 was changed from Other - please provide details in the comments to Other Publications for gene: GLUD1 were updated from 10636977; 11214910; 9571255 to 9571255; 11214910; 10636977 |
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| DDG2P v3.11 | GLRA1 |
Achchuthan Shanmugasundram gene: GLRA1 was added gene: GLRA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLRA1 were set to 24030948; 20631190; 9920650; 32319239; 30109271; 24970905; 28985719; 25036534; 32332682 Phenotypes for gene: GLRA1 were set to GLRA1-related hyperexplexia, biallelic, OMIM:149400; GLRA1-related hyperexplexia, monoallelic, OMIM:149400 |
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| DDG2P v3.11 | GLE1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GLE1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GJC2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GJC2 was changed from Other - please provide details in the comments to Other Publications for gene: GJC2 were updated from 16969684; 15192806; 8733901; 18094336 to 20537300; 8733901; 18094336; 16969684; 19056803; 15192806 |
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| DDG2P v3.11 | GJA8 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA8 was changed from Other - please provide details in the comments to Other Publications for gene: GJA8 were updated from 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 to 16604058; 18006672; 14627691; 9497259; 10480374; 11846744 |
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| DDG2P v3.11 | GJA3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA3 was changed from Other - please provide details in the comments to Other Publications for gene: GJA3 were updated from 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 to 15448617; 21681855; 22312188; 10746562; 22550389; 22876138; 10205266 |
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| DDG2P v3.11 | GFAP |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GFAP was changed from Other - please provide details in the comments to Other Publications for gene: GFAP were updated from 14557587; 12975300; 11567214; 12034796; 11138011; 12447932 to 11138011; 11567214; 12447932; 12975300; 14557587; 12034796 |
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| DDG2P v3.11 | GEMIN5 |
Achchuthan Shanmugasundram gene: GEMIN5 was added gene: GEMIN5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN5 were set to 33963192 Phenotypes for gene: GEMIN5 were set to GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333 |
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| DDG2P v3.11 | GEMIN4 |
Achchuthan Shanmugasundram gene: GEMIN4 was added gene: GEMIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN4 were set to 30237576; 35861185; 27878435; 25558065 Phenotypes for gene: GEMIN4 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913 Mode of pathogenicity for gene: GEMIN4 was set to Other |
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| DDG2P v3.11 | GDF6 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF6 was changed from Other - please provide details in the comments to Other Publications for gene: GDF6 were updated from 19129173 to 18425797; 21070663; 32737436; 25457163; 19129173 |
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| DDG2P v3.11 | GDF3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF3 was changed from Other - please provide details in the comments to Other Publications for gene: GDF3 were updated from to 19864492; 29260090 |
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| DDG2P v3.11 | GCH1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GCH1 was changed from Other - please provide details in the comments to Other Publications for gene: GCH1 were updated from 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165 to 12552057; 9667588; 7874165; 10208576; 17111153; 9576537; 7730309; 11359069; 10732814; 11486899; 10987649 |
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| DDG2P v3.11 | GCDH |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GCDH was changed from Other - please provide details in the comments to Other Publications for gene: GCDH were updated from 11174631; 8900227; 10699052; 7795610; 8900228 to 11174631; 8900228; 10699052; 7795610; 8900227 |
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| DDG2P v3.11 | GATA3 |
Achchuthan Shanmugasundram gene: GATA3 was added gene: GATA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA3 were set to 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 for gene: GATA3 were set to HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255 |
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| DDG2P v3.11 | GAN |
Achchuthan Shanmugasundram gene: GAN was added gene: GAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAN were set to 11062483; 29876741; 20949505; 30246730; 19231187; 30532362 Phenotypes for gene: GAN were set to Giant axonal neuropathy 1 |
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| DDG2P v3.11 | GAD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GAD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GABRG1 |
Achchuthan Shanmugasundram gene: GABRG1 was added gene: GABRG1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRG1 were set to 36121006 Phenotypes for gene: GABRG1 were set to GABRG1-associated epileptic encephalopathy Mode of pathogenicity for gene: GABRG1 was set to Other |
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| DDG2P v3.11 | GABRB3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GABRB3 was changed from Other - please provide details in the comments to Other Publications for gene: GABRB3 were updated from 23934111; 27476654 to 27476654; 18514161; 23934111 |
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| DDG2P v3.11 | GABRB2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GABRB2. Mode of pathogenicity for gene GABRB2 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 | GABBR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GABBR2. Mode of pathogenicity for gene GABBR2 was changed from Other - please provide details in the comments to Other Publications for gene: GABBR2 were updated from 25262651 to 29100083; 29369404; 26740508; 25262651; 28856709 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | GABBR1 |
Achchuthan Shanmugasundram gene: GABBR1 was added gene: GABBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABBR1 were set to 36103875 Phenotypes for gene: GABBR1 were set to GABBR1-associated neurodevelopmental disorder Mode of pathogenicity for gene: GABBR1 was set to Other |
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| DDG2P v3.11 | FZR1 |
Achchuthan Shanmugasundram gene: FZR1 was added gene: FZR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FZR1 were set to 31318984; 34788397 Phenotypes for gene: FZR1 were set to FZR1-related intellectual disability and epilepsy Mode of pathogenicity for gene: FZR1 was set to Other |
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| DDG2P v3.11 | FZD5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FZD5. Mode of pathogenicity for gene FZD5 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 | FXR1 |
Achchuthan Shanmugasundram gene: FXR1 was added gene: FXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXR1 were set to 35393337; 30770808 Phenotypes for gene: FXR1 were set to FXR1-related congenital myopathy |
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| DDG2P v3.11 | FUK |
Achchuthan Shanmugasundram Source Expert Review Green was added to FUK. Mode of pathogenicity for gene FUK 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 | FTO | Achchuthan Shanmugasundram Mode of pathogenicity for gene FTO was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FRMD5 |
Achchuthan Shanmugasundram gene: FRMD5 was added gene: FRMD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FRMD5 were set to 36206744 Phenotypes for gene: FRMD5 were set to FRMD5-related developmental disorder Mode of pathogenicity for gene: FRMD5 was set to Other |
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| DDG2P v3.11 | FOXJ1 |
Achchuthan Shanmugasundram gene: FOXJ1 was added gene: FOXJ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXJ1 were set to 31630787 Phenotypes for gene: FOXJ1 were set to Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry |
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| DDG2P v3.11 | FOXI3 |
Achchuthan Shanmugasundram gene: FOXI3 was added gene: FOXI3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXI3 were set to 36260083 Phenotypes for gene: FOXI3 were set to FOXI3-related microtia and craniofacial microsomia Mode of pathogenicity for gene: FOXI3 was set to Other |
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| DDG2P v3.11 | FOXE1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene FOXE1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FN1. Mode of pathogenicity for gene FN1 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 | FLVCR1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FLVCR1 was changed from Other - please provide details in the comments to Other Publications for gene: FLVCR1 were updated from 21070897; 9409377; 21267618 to 21267618; 21070897; 9409377; 30656474 |
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| DDG2P v3.11 | FGFR3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR3 was changed from Other - please provide details in the comments to Other Publications for gene: FGFR3 were updated from 7773297; 19449430; 8845844; 7647778 to 28483234; 8845844; 7493034; 7913883; 17033969; 16912704; 16501574; 7758520; 11055896; 19449430; 9452043; 7670477; 7773297; 10215410; 7647778; 16411219; 8078586; 8589686; 27139183 |
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| DDG2P v3.11 | FGFR2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR2 was changed from Other - please provide details in the comments to Other Publications for gene: FGFR2 were updated from 19610084; 8696350 to 7719344; 9677057; 7987400; 7874170; 9973282; 8696350; 19610084; 15523492; 7607643; 9152842; 8528214; 7581378; 7655462; 17621648; 9002682; 22038757 |
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| DDG2P v3.11 | FGF13 |
Achchuthan Shanmugasundram gene: FGF13 was added gene: FGF13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGF13 were set to 33245860 Phenotypes for gene: FGF13 were set to FGF13-related neurodevelopmental disorder (X-linked dominant); FGF13-related neurodevelopmental disorder (hemizygous) Mode of pathogenicity for gene: FGF13 was set to Other |
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| DDG2P v3.11 | FGF12 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FGF12 was changed from Other - please provide details in the comments to Other Publications for gene: FGF12 were updated from 27830185; 27164707; 27872899 to 27164707; 27872899; 27830185 |
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| DDG2P v3.11 | FEM1C |
Achchuthan Shanmugasundram gene: FEM1C was added gene: FEM1C was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FEM1C were set to 36336956 Phenotypes for gene: FEM1C were set to FEM1C-related developmental disorder Mode of pathogenicity for gene: FEM1C was set to Other |
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| DDG2P v3.11 | FBXW7 |
Achchuthan Shanmugasundram gene: FBXW7 was added gene: FBXW7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXW7 were set to 33057194 Phenotypes for gene: FBXW7 were set to FBXW7-related developmental disorder (monoallelic) Mode of pathogenicity for gene: FBXW7 was set to Other |
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| DDG2P v3.11 | FBXW11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FBXW11. Mode of pathogenicity for gene FBXW11 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 | FBXO28 |
Achchuthan Shanmugasundram gene: FBXO28 was added gene: FBXO28 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO28 were set to 30160831; 33280099 Phenotypes for gene: FBXO28 were set to FBX028-related developmental and epileptic encephalopathy with profound intellectual disability Mode of pathogenicity for gene: FBXO28 was set to Other |
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| DDG2P v3.11 | FBN2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FBN2 was changed from Other - please provide details in the comments to Other Publications for gene: FBN2 were updated from 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527; 7493032; 33571691; 25558065; 28383543 to 9737771; 11281275; 20799338; 9106527; 33571691; 28383543; 7493032; 25558065; 9199560; 8900230; 10797416 |
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| DDG2P v3.11 | FBN1 |
Achchuthan Shanmugasundram Mode of inheritance for gene FBN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBN1 were updated from 8406497 to 1852208; 1631074; 31950671; 17366579; 9241263; 7611299; 1569206; 1301946; 11175294; 9101298; 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 |
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| DDG2P v3.11 | FBLN1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene FBLN1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FASN | Achchuthan Shanmugasundram Mode of pathogenicity for gene FASN was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FAM111A | Achchuthan Shanmugasundram Mode of pathogenicity for gene FAM111A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EZH2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene EZH2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EXTL3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EXTL3. Mode of pathogenicity for gene EXTL3 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 | ETHE1 | Achchuthan Shanmugasundram Publications for gene: ETHE1 were updated from 14732903; 20528888; 18593870 to 18593870; 14732903; 20528888 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ERLIN2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ERLIN2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ERBB3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3. Mode of pathogenicity for gene ERBB3 was changed from Other - please provide details in the comments to Other Publications for gene: ERBB3 were updated from to 17701904 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | EPCAM |
Achchuthan Shanmugasundram gene: EPCAM was added gene: EPCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPCAM were set to 21315192; 24048167; 24142340; 18572020; 20034091; 26684320; 27875355; 19820410 Phenotypes for gene: EPCAM were set to DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217 |
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| DDG2P v3.11 | EPB41L1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene EPB41L1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ENTPD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ENTPD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EMG1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1. Mode of pathogenicity for gene EMG1 was changed from Other - please provide details in the comments to Other Publications for gene: EMG1 were updated from 26676230; 19463982; 25708872; 27798105 to 26676230; 27798105; 19463982; 25708872 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ELP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ELP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EIF4A3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene EIF4A3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EIF2B5 |
Achchuthan Shanmugasundram gene: EIF2B5 was added gene: EIF2B5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B5 were set to 28939701; 25457085; 25230711; 25089094; 25758335; 14572143; 15776425 Phenotypes for gene: EIF2B5 were set to EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896 |
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| DDG2P v3.11 | EIF2B4 |
Achchuthan Shanmugasundram gene: EIF2B4 was added gene: EIF2B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B4 were set to 30073106; 26043506; 25089094; 31385086; 18539998; 14572143 Phenotypes for gene: EIF2B4 were set to EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896 |
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| DDG2P v3.11 | EIF2AK2 |
Achchuthan Shanmugasundram gene: EIF2AK2 was added gene: EIF2AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF2AK2 were set to 32197074 Phenotypes for gene: EIF2AK2 were set to EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation Mode of pathogenicity for gene: EIF2AK2 was set to Other |
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| DDG2P v3.11 | EIF2AK1 |
Achchuthan Shanmugasundram gene: EIF2AK1 was added gene: EIF2AK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF2AK1 were set to 32197074 Phenotypes for gene: EIF2AK1 were set to EIF2AK1-associated Neurodevelopmental Syndrome Mode of pathogenicity for gene: EIF2AK1 was set to Other |
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| DDG2P v3.11 | EEF1A2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EEF1A2. Mode of pathogenicity for gene EEF1A2 was changed from Other - please provide details in the comments to Other Publications for gene: EEF1A2 were updated from 23647072 to 32196822; 23647072 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | EED |
Achchuthan Shanmugasundram Source Expert Review Green was added to EED. Mode of pathogenicity for gene EED was changed from Other - please provide details in the comments to Other Publications for gene: EED were updated from 28475857; 27193220; 25787343; 27868325 to 27868325; 27193220; 25787343; 28475857 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | EDNRA | Achchuthan Shanmugasundram Mode of pathogenicity for gene EDNRA was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ECM1 |
Achchuthan Shanmugasundram gene: ECM1 was added gene: ECM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECM1 were set to 25529926; 25465029; 28434238 Phenotypes for gene: ECM1 were set to LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100 |
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| DDG2P v3.11 | DYNC1H1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene DYNC1H1 was changed from Other - please provide details in the comments to Other Publications for gene: DYNC1H1 were updated from 22459677 to 22368300; 27066557; 28554554; 27331017; 30122514; 25484024; 25609763; 24307404; 29306600; 28193117; 22459677 |
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| DDG2P v3.11 | DVL3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DVL3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DVL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DVL1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DSTYK | Achchuthan Shanmugasundram Mode of inheritance for gene DSTYK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DSP |
Achchuthan Shanmugasundram gene: DSP was added gene: DSP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DSP were set to 33057194 Phenotypes for gene: DSP were set to DSP-related developmental disorder Mode of pathogenicity for gene: DSP was set to Other |
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| DDG2P v3.11 | DSE | Achchuthan Shanmugasundram Mode of pathogenicity for gene DSE was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DPYSL5 |
Achchuthan Shanmugasundram gene: DPYSL5 was added gene: DPYSL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DPYSL5 were set to 33894126 Phenotypes for gene: DPYSL5 were set to DPYSL5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: DPYSL5 was set to Other |
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| DDG2P v3.11 | DPF2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2. Mode of pathogenicity for gene DPF2 was changed from Other - please provide details in the comments to Other Publications for gene: DPF2 were updated from 29429572 to 29429572; 35607970 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | DOLK |
Achchuthan Shanmugasundram Mode of pathogenicity for gene DOLK was changed from Other - please provide details in the comments to Other Publications for gene: DOLK were updated from 17273964; 22242004 to 22242004; 17273964 |
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| DDG2P v3.11 | DNM1L |
Achchuthan Shanmugasundram gene: DNM1L was added gene: DNM1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM1L were set to 26604000; 26992161; 30850373; 27328748; 30939602; 29877124; 31475481; 30801875; 31587467 Phenotypes for gene: DNM1L were set to DNM1L-related developmental disorder (monoallelic) Mode of pathogenicity for gene: DNM1L was set to Other |
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| DDG2P v3.11 | DNM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DNM1. Mode of inheritance for gene DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DNM1 were updated from to 36413998; 34172529; 25262651 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | DNAJB4 |
Achchuthan Shanmugasundram gene: DNAJB4 was added gene: DNAJB4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB4 were set to 36264506 Phenotypes for gene: DNAJB4 were set to DNAJB4-related myopathy with early respiratory failure |
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| DDG2P v3.11 | DNAAF5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DNAAF5. Mode of pathogenicity for gene DNAAF5 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 | DMPK | Achchuthan Shanmugasundram Mode of pathogenicity for gene DMPK was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DLX5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DLX5 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DLG5 |
Achchuthan Shanmugasundram gene: DLG5 was added gene: DLG5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: DLG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DLG5 were set to 32631816 Phenotypes for gene: DLG5 were set to DLG5-associated developmental disorder (biallelic); DLG5-associated developmental disorder (monoallelic) |
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| DDG2P v3.11 | DIP2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene DIP2B was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHX37 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX37 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHX34 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX34 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHX30 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DHX30. Mode of pathogenicity for gene DHX30 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 | DHX16 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX16 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHRS3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHRS3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHPS |
Achchuthan Shanmugasundram Source Expert Review Green was added to DHPS. Mode of pathogenicity for gene DHPS 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 | DHFR | Achchuthan Shanmugasundram Mode of pathogenicity for gene DHFR was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DHDDS |
Achchuthan Shanmugasundram Source Expert Review Green was added to DHDDS. Mode of pathogenicity for gene DHDDS 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 | DEAF1 |
Achchuthan Shanmugasundram Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DEAF1 were updated from 26834045; 26048982 to 24726472; 26048982; 26834045; 21076407 |
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| DDG2P v3.11 | DDX6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DDX6. Mode of pathogenicity for gene DDX6 was changed from Other - please provide details in the comments to Other Publications for gene: DDX6 were updated from to 31422817 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | DDX59 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DDX59. Mode of pathogenicity for gene DDX59 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 | DDX58 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX58 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDX54 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX54 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDX23 |
Achchuthan Shanmugasundram gene: DDX23 was added gene: DDX23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DDX23 were set to 33057194 Phenotypes for gene: DDX23 were set to DDX23-related developmental disorder (monoallelic) Mode of pathogenicity for gene: DDX23 was set to Other |
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| DDG2P v3.11 | DDR2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DDR2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDB1 |
Achchuthan Shanmugasundram gene: DDB1 was added gene: DDB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DDB1 were set to 33743206 Phenotypes for gene: DDB1 were set to DDB1-associated neurodevelopmental syndrome Mode of pathogenicity for gene: DDB1 was set to Other |
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| DDG2P v3.11 | DAW1 |
Achchuthan Shanmugasundram gene: DAW1 was added gene: DAW1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAW1 were set to 36074124 Phenotypes for gene: DAW1 were set to DAW1-associated ciliopathy |
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| DDG2P v3.11 | DARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene DARS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DAG1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene DAG1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DACT1 |
Achchuthan Shanmugasundram Mode of inheritance for gene DACT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene DACT1 was changed from to Other Publications for gene: DACT1 were updated from 28054444; 22610794 to 22610794; 36066768; 28054444 |
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| DDG2P v3.11 | CYP1B1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CYP1B1 was changed from Other - please provide details in the comments to Other Publications for gene: CYP1B1 were updated from 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971 to 9463332; 19643970; 15342693; 19807744; 9497261; 10227395; 9097971; 27777502; 12372064 |
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| DDG2P v3.11 | CYFIP2 |
Achchuthan Shanmugasundram gene: CYFIP2 was added gene: CYFIP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CYFIP2 were set to 29534297; 31689829; 30664714; 29667327 Phenotypes for gene: CYFIP2 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468 Mode of pathogenicity for gene: CYFIP2 was set to Other |
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| DDG2P v3.11 | CYC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CYC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CUX2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CUX2. Mode of pathogenicity for gene CUX2 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 | CUX1 |
Achchuthan Shanmugasundram gene: CUX1 was added gene: CUX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX1 were set to 30014507 Phenotypes for gene: CUX1 were set to GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT |
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| DDG2P v3.11 | CSNK2A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CSNK2A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CSNK1G1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CSNK1G1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRYBB3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CRYBB3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRYBB1 |
Achchuthan Shanmugasundram Mode of inheritance for gene CRYBB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYBB1 were updated from 12360425; 17460281 to 17460281; 12360425 |
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| DDG2P v3.11 | CRYBA4 |
Achchuthan Shanmugasundram Source Expert Review Red was added to CRYBA4. Mode of pathogenicity for gene CRYBA4 was changed from Other - please provide details in the comments to Other Publications for gene: CRYBA4 were updated from 16960806 to 16960806; 15452067; 20577656 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | CRLS1 |
Achchuthan Shanmugasundram gene: CRLS1 was added gene: CRLS1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRLS1 were set to 35147173 Phenotypes for gene: CRLS1 were set to CRLS1-related mitochondrial disorder Mode of pathogenicity for gene: CRLS1 was set to Other |
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| DDG2P v3.11 | CRKL | Achchuthan Shanmugasundram Mode of pathogenicity for gene CRKL was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRELD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CRELD1. Mode of pathogenicity for gene CRELD1 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 | CRADD |
Achchuthan Shanmugasundram Source Expert Review Red was added to CRADD. Mode of pathogenicity for gene CRADD was changed from Other - please provide details in the comments to Other Publications for gene: CRADD were updated from 27773430 to 27773430; 22279524 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| DDG2P v3.11 | CPSF3 |
Achchuthan Shanmugasundram gene: CPSF3 was added gene: CPSF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPSF3 were set to 35121750 Phenotypes for gene: CPSF3 were set to CPSF3-associated neurodevelopmental disorder with seizures and microcephaly Mode of pathogenicity for gene: CPSF3 was set to Other |
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| DDG2P v3.11 | COX10 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COX10 was changed from Other - please provide details in the comments to Other Publications for gene: COX10 were updated from 18499082; 10767350; 11013136; 10647889; 10545952 to 10767350; 15455402; 11013136; 18499082; 10545952; 12928484; 10647889 |
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| DDG2P v3.11 | COQ5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene COQ5 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COPB1 |
Achchuthan Shanmugasundram gene: COPB1 was added gene: COPB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB1 were set to 33632302 Phenotypes for gene: COPB1 were set to COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly Mode of pathogenicity for gene: COPB1 was set to Other |
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| DDG2P v3.11 | COMP |
Achchuthan Shanmugasundram Source Expert Review Red was added to COMP. Mode of pathogenicity for gene COMP was changed from Other - please provide details in the comments to Other Publications for gene: COMP were updated from 9463320; 7670472; 9887340; 12483304; 9021009 to 9021009; 9463320; 12483304; 7670472; 9887340 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.11 | COL9A3 |
Achchuthan Shanmugasundram Mode of inheritance for gene COL9A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL9A3 were updated from 24273071 to 15551337; 30450842; 10655510; 24273071; 10090888; 31090205 |
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| DDG2P v3.11 | COL6A2 |
Achchuthan Shanmugasundram gene: COL6A2 was added gene: COL6A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL6A2 were set to 34167565; 15563506; 20106987; 11381124; 16075202; 19564581; 12218063 Phenotypes for gene: COL6A2 were set to COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090; COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090 |
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| DDG2P v3.11 | COL6A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene COL6A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL4A3BP | Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A3BP was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL4A2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL4A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL1A1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COL1A1 was changed from Other - please provide details in the comments to Other Publications for gene: COL1A1 were updated from 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209 to 8097422; 2339700; 12538651; 8950680; 15728585; 8364588; 1864604; 15024692; 2037280; 7816518; 2794057; 1770532; 8910493; 3403550; 3108247; 1737847; 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 |
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| DDG2P v3.11 | COL11A2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COL11A2 was changed from Other - please provide details in the comments to Other Publications for gene: COL11A2 were updated from 15558753; 14234962 to 16033917; 10581026; 16189708; 15558753; 16637051; 7833911; 15372529; 10677296; 7859284; 9506662; 14234962 |
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| DDG2P v3.11 | COL10A1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene COL10A1 was changed from Other - please provide details in the comments to Other Publications for gene: COL10A1 were updated from 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716 to 7607655; 9852679; 17403716; 12554676; 8554571; 8012364; 9468540; 8986632; 9067753; 8004099; 10991694; 8304336; 9525992; 7749409 |
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| DDG2P v3.11 | COG4 |
Achchuthan Shanmugasundram Mode of inheritance for gene COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG4 were updated from to 30290151 |
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| DDG2P v3.11 | CNOT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CNOT1. Mode of pathogenicity for gene CNOT1 was changed from Other - please provide details in the comments to Other Publications for gene: CNOT1 were updated from 31006510; 31006513 to 31006513; 32553196; 31006510 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CNNM2 |
Achchuthan Shanmugasundram gene: CNNM2 was added gene: CNNM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CNNM2 were set to 21397062; 30026055; 24699222 Phenotypes for gene: CNNM2 were set to CNNM2-related neurodevelopmental disorder with hypomagnesemia; autosomal recessive form |
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| DDG2P v3.11 | CLPP |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLPP. Mode of pathogenicity for gene CLPP 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 | CLP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLP1. Mode of pathogenicity for gene CLP1 was changed from Other - please provide details in the comments to Other Publications for gene: CLP1 were updated from 24766810; 24766809; 29307788 to 24766809; 24766810; 29307788 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CLIC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CLIC2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CLDN5 |
Achchuthan Shanmugasundram gene: CLDN5 was added gene: CLDN5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLDN5 were set to 35714222 Phenotypes for gene: CLDN5 were set to CLDN5-related neurodevelopmental disorder Mode of pathogenicity for gene: CLDN5 was set to Other |
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| DDG2P v3.11 | CLDN19 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CLDN19 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CLCN6 |
Achchuthan Shanmugasundram gene: CLCN6 was added gene: CLCN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN6 were set to 33217309; 28074849; 29667327 Phenotypes for gene: CLCN6 were set to CLCN6-related Developmental Disorder Mode of pathogenicity for gene: CLCN6 was set to Other |
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| DDG2P v3.11 | CLCN4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLCN4. Mode of inheritance for gene CLCN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females Mode of pathogenicity for gene CLCN4 was changed from Other - please provide details in the comments to Other Publications for gene: CLCN4 were updated from 23647072; 25644381 to 25644381; 27550844; 23647072 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CLCN3 |
Achchuthan Shanmugasundram gene: CLCN3 was added gene: CLCN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN3 were set to 34186028 Phenotypes for gene: CLCN3 were set to CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 |
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| DDG2P v3.11 | CIT |
Achchuthan Shanmugasundram Source Expert Review Green was added to CIT. Mode of pathogenicity for gene CIT 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 | CHRNB2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNB2. Mode of pathogenicity for gene CHRNB2 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 | CHRNB1 |
Achchuthan Shanmugasundram gene: CHRNB1 was added gene: CHRNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CHRNB1 were set to 8872460; 10562302; 33296147; 27375219; 8651643 Phenotypes for gene: CHRNB1 were set to CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314; CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313 |
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| DDG2P v3.11 | CHRNA4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CHRNA4 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CHRNA3 |
Achchuthan Shanmugasundram gene: CHRNA3 was added gene: CHRNA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA3 were set to 31708116 Phenotypes for gene: CHRNA3 were set to CHRNA3-related congenital anomalies of the kidney and urinary tract |
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| DDG2P v3.11 | CHRNA2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to CHRNA2. Mode of pathogenicity for gene CHRNA2 was changed from Other - please provide details in the comments to Other Publications for gene: CHRNA2 were updated from to 25770198; 30809122; 16826524; 25847220 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| DDG2P v3.11 | CHRM1 |
Achchuthan Shanmugasundram gene: CHRM1 was added gene: CHRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHRM1 were set to 34212451 Phenotypes for gene: CHRM1 were set to CHRM1-associated intellectual disability Mode of pathogenicity for gene: CHRM1 was set to Other |
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| DDG2P v3.11 | CHD5 |
Achchuthan Shanmugasundram gene: CHD5 was added gene: CHD5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD5 were set to 33944996 Phenotypes for gene: CHD5 were set to CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy |
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| DDG2P v3.11 | CHD3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHD3. Mode of pathogenicity for gene CHD3 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 | CFL2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CFL2. Mode of pathogenicity for gene CFL2 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 | CDON | Achchuthan Shanmugasundram Mode of pathogenicity for gene CDON was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDK8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK8 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDK19 |
Achchuthan Shanmugasundram gene: CDK19 was added gene: CDK19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK19 were set to 32330417 Phenotypes for gene: CDK19 were set to CDK19-associated Intellectual Disability and Epileptic Encephalopathy Mode of pathogenicity for gene: CDK19 was set to Other |
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| DDG2P v3.11 | CDK16 |
Achchuthan Shanmugasundram Mode of inheritance for gene CDK16 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: CDK16 were updated from 25644381 to 25644381; 36323681 |
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| DDG2P v3.11 | CDK13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK13 was changed from Other - please provide details in the comments to Other Publications for gene: CDK13 were updated from 27479907 to 27479907; 29222009; 29021403; 28807008; 29393965 |
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| DDG2P v3.11 | CDH2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CDH2. Mode of pathogenicity for gene CDH2 was changed from Other - please provide details in the comments to Other Publications for gene: CDH2 were updated from 31650526; 31585109 to 31585109; 31650526 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CDH1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CDH1 was changed from Other - please provide details in the comments to Other Publications for gene: CDH1 were updated from 100000 to 100000; 29348693 |
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| DDG2P v3.11 | CDC42 |
Achchuthan Shanmugasundram gene: CDC42 was added gene: CDC42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDC42 were set to 26708094; 29394990; 26386261 Phenotypes for gene: CDC42 were set to CDC42-related Neurodevelopmental Disorder Mode of pathogenicity for gene: CDC42 was set to Other |
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| DDG2P v3.11 | CDC40 |
Achchuthan Shanmugasundram gene: CDC40 was added gene: CDC40 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC40 were set to 33220177 Phenotypes for gene: CDC40 were set to CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Mode of pathogenicity for gene: CDC40 was set to Other |
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| DDG2P v3.11 | CCND2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CCND2 was changed from Other - please provide details in the comments to Other Publications for gene: CCND2 were updated from to 24705253 |
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| DDG2P v3.11 | CCDC22 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC22. Mode of pathogenicity for gene CCDC22 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 | CBL |
Achchuthan Shanmugasundram Mode of pathogenicity for gene CBL was changed from Other - please provide details in the comments to Other Publications for gene: CBL were updated from 20694012; 20619386; 20543203 to 20694012; 20543203; 20619386 |
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| DDG2P v3.11 | CAPRIN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CAPRIN1. Mode of pathogenicity for gene CAPRIN1 was changed from to Other Publications for gene: CAPRIN1 were updated from 23849776 to 23849776; 35979925 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CAMK2G |
Achchuthan Shanmugasundram gene: CAMK2G was added gene: CAMK2G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK2G were set to 23033978; 30184290 Phenotypes for gene: CAMK2G were set to INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522 Mode of pathogenicity for gene: CAMK2G was set to Other |
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| DDG2P v3.11 | CACNA2D1 |
Achchuthan Shanmugasundram gene: CACNA2D1 was added gene: CACNA2D1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA2D1 were set to 35293990 Phenotypes for gene: CACNA2D1 were set to CACNA2D1-related neurodevelopmental disorder Mode of pathogenicity for gene: CACNA2D1 was set to Other |
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| DDG2P v3.11 | CACNA1H | Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1H was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA1E | Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1E was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA1C | Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1C was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CACNA1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1A. Mode of pathogenicity for gene CACNA1A was changed from Other - please provide details in the comments to Other Publications for gene: CACNA1A were updated from 27476654; 28927557; 28742085; 23934111; 29366381 to 28927557; 27476654; 23934111; 29366381; 28742085 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | C1QBP |
Achchuthan Shanmugasundram Source Expert Review Green was added to C1QBP. Mode of pathogenicity for gene C1QBP 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 | C12orf57 |
Achchuthan Shanmugasundram Source Expert Review Green was added to C12orf57. Mode of pathogenicity for gene C12orf57 was changed from Other - please provide details in the comments to Other Publications for gene: C12orf57 were updated from 23453666 to 24798461; 23453666 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | BSN |
Achchuthan Shanmugasundram gene: BSN was added gene: BSN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BSN were set to 36600631 Phenotypes for gene: BSN were set to BSN-related epilepsy Mode of pathogenicity for gene: BSN was set to Other |
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| DDG2P v3.11 | BRAF |
Achchuthan Shanmugasundram Mode of pathogenicity for gene BRAF was changed from Other - please provide details in the comments to Other Publications for gene: BRAF were updated from 18042262; 16474404; 16372351 to 16372351; 19206169; 16474404; 18042262 |
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| DDG2P v3.11 | BICD2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene BICD2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BHLHA9 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene BHLHA9 was changed from Other - please provide details in the comments to Other Publications for gene: BHLHA9 were updated from 23790188; 22147889 to 22147889; 23790188; 25466284 |
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| DDG2P v3.11 | BFSP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene BFSP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BCORL1 |
Achchuthan Shanmugasundram gene: BCORL1 was added gene: BCORL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCORL1 were set to 30941876; 33810051; 34400773; 24123876 Phenotypes for gene: BCORL1 were set to Shukla-Vernon Syndrome Mode of pathogenicity for gene: BCORL1 was set to Other |
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| DDG2P v3.11 | BCAS3 |
Achchuthan Shanmugasundram gene: BCAS3 was added gene: BCAS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to 34022130 Phenotypes for gene: BCAS3 were set to BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy |
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| DDG2P v3.11 | BAP1 |
Achchuthan Shanmugasundram gene: BAP1 was added gene: BAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAP1 were set to 35051358 Phenotypes for gene: BAP1 were set to BAP1-associated neurodevelopmental syndrome Mode of pathogenicity for gene: BAP1 was set to Other |
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| DDG2P v3.11 | BANF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to BANF1. Mode of pathogenicity for gene BANF1 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 | B3GAT3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene B3GAT3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AXIN1 |
Achchuthan Shanmugasundram Mode of inheritance for gene AXIN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene AXIN1 was changed from Other - please provide details in the comments to Other |
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| DDG2P v3.11 | ATP8A2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP8A2 was changed from Other - please provide details in the comments to Other Publications for gene: ATP8A2 were updated from 22892528 to 16075202; 22892528 |
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| DDG2P v3.11 | ATP6V1E1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1E1. Mode of pathogenicity for gene ATP6V1E1 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 | ATP6V1B2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1B2. Mode of pathogenicity for gene ATP6V1B2 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 | ATP6V1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1A. Mode of pathogenicity for gene ATP6V1A was changed from Other - please provide details in the comments to Other Publications for gene: ATP6V1A were updated from 28065471; 33320377; 29668857; 32045939 to 28065471; 29668857; 33320377; 32045939 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ATP6V0A1 |
Achchuthan Shanmugasundram gene: ATP6V0A1 was added gene: ATP6V0A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP6V0A1 were set to 33057194; 28135719; 30842224 Phenotypes for gene: ATP6V0A1 were set to ATP6V0A1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: ATP6V0A1 was set to Other |
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| DDG2P v3.11 | ATP6AP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP6AP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATP5D |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5D. Mode of pathogenicity for gene ATP5D 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 | ATP5A1 |
Achchuthan Shanmugasundram gene: ATP5A1 was added gene: ATP5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP5A1 were set to 34483339; 23599390; 23596069 Phenotypes for gene: ATP5A1 were set to ATP5F1A-related mitochondrial encephalopathy, OMIM:615228; ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia Mode of pathogenicity for gene: ATP5A1 was set to Other |
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| DDG2P v3.11 | ATP1A3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP1A3 was changed from Other - please provide details in the comments to Other Publications for gene: ATP1A3 were updated from 22842232 to 33880529; 22842232 |
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| DDG2P v3.11 | ATP1A2 |
Achchuthan Shanmugasundram gene: ATP1A2 was added gene: ATP1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 31608932; 20837964; 17435187; 30690204; 33880529; 33493807 Phenotypes for gene: ATP1A2 were set to ATP1A2-related epileptic encephalopathy; MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related; Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy |
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| DDG2P v3.11 | ATP1A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP1A1. Mode of pathogenicity for gene ATP1A1 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 | ATOH7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ATOH7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATN1. Mode of pathogenicity for gene ATN1 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 | ATG4D |
Achchuthan Shanmugasundram gene: ATG4D was added gene: ATG4D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ATG4D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG4D were set to 36765070 Phenotypes for gene: ATG4D were set to ATG4D-related neurodevelopmental disorder Mode of pathogenicity for gene: ATG4D was set to Other |
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| DDG2P v3.11 | ATAD3A |
Achchuthan Shanmugasundram Mode of inheritance for gene ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were updated from 27640307 to 32004445; 27640307 |
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| DDG2P v3.11 | ASNS |
Achchuthan Shanmugasundram gene: ASNS was added gene: ASNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNS were set to 24139043; 27743885; 32255274; 28776279; 27268761; 31720226; 30978478; 27522229; 25227173; 27469131; 29375865; 29279279; 31123592; 32481472; 25663424; 30057589; 27422383 Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, OMIM:615574 |
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| DDG2P v3.11 | ASH1L |
Achchuthan Shanmugasundram Source Expert Review Green was added to ASH1L. Mode of pathogenicity for gene ASH1L was changed from Other - please provide details in the comments to Other Publications for gene: ASH1L were updated from 25961944; 28394464; 29753921; 29276005 to 29276005; 29753921; 25961944; 28394464 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ASCL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCL1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ASCC3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCC3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARPC4 |
Achchuthan Shanmugasundram gene: ARPC4 was added gene: ARPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARPC4 were set to 35047857 Phenotypes for gene: ARPC4 were set to ARPC4-related microcephaly and developmental delay Mode of pathogenicity for gene: ARPC4 was set to Other |
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| DDG2P v3.11 | ARL3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3. Mode of pathogenicity for gene ARL3 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 | ARL14EP | Achchuthan Shanmugasundram Mode of pathogenicity for gene ARL14EP was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARHGEF9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGEF9. Mode of inheritance for gene ARHGEF9 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: ARHGEF9 were updated from 21633362 to 21633362; 28589176 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ARF3 |
Achchuthan Shanmugasundram gene: ARF3 was added gene: ARF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARF3 were set to 36369169 Phenotypes for gene: ARF3 were set to ARF3-related neurodevelopmental disorder Mode of pathogenicity for gene: ARF3 was set to Other |
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| DDG2P v3.11 | ARF1 |
Achchuthan Shanmugasundram gene: ARF1 was added gene: ARF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARF1 were set to 33057194; 28868155; 34353862 Phenotypes for gene: ARF1 were set to PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615 Mode of pathogenicity for gene: ARF1 was set to Other |
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| DDG2P v3.11 | AP2S1 |
Achchuthan Shanmugasundram gene: AP2S1 was added gene: AP2S1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AP2S1 were set to 33057194 Phenotypes for gene: AP2S1 were set to AP2S1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: AP2S1 was set to Other |
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| DDG2P v3.11 | AP2M1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AP2M1. Mode of pathogenicity for gene AP2M1 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 | ANO5 | Achchuthan Shanmugasundram Mode of inheritance for gene ANO5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ANKRD26 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ANKRD26. Mode of pathogenicity for gene ANKRD26 was changed from Other - please provide details in the comments to Other Publications for gene: ANKRD26 were updated from 21211618; 10521306 to 10521306; 21211618 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ALPL | Achchuthan Shanmugasundram Mode of pathogenicity for gene ALPL was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ALG13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ALG13. Mode of inheritance for gene ALG13 was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 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 ALG13 was changed from Other - please provide details in the comments to Other Publications for gene: ALG13 were updated from 22492991 to 22492991; 23934111; 28887793 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ALDOA |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ALDOA was changed from Other - please provide details in the comments to Other Publications for gene: ALDOA were updated from 8598869; 2825199 to 2825199; 8598869 |
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| DDG2P v3.11 | ALDH1A2 |
Achchuthan Shanmugasundram gene: ALDH1A2 was added gene: ALDH1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183 Phenotypes for gene: ALDH1A2 were set to ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia Mode of pathogenicity for gene: ALDH1A2 was set to Other |
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| DDG2P v3.11 | ALAD |
Achchuthan Shanmugasundram Source Expert Review Red was added to ALAD. Mode of pathogenicity for gene ALAD 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 | AKT3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AKT3. Mode of pathogenicity for gene AKT3 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 | AKT2 |
Achchuthan Shanmugasundram gene: AKT2 was added gene: AKT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT2 were set to 28541532; 26003998; 24285683; 21979934 Phenotypes for gene: AKT2 were set to AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900 Mode of pathogenicity for gene: AKT2 was set to Other |
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| DDG2P v3.11 | AKT1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene AKT1 was changed from Other - please provide details in the comments to Other Publications for gene: AKT1 were updated from 21793738; 22876373 to 22876373; 21793738 |
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| DDG2P v3.11 | AIFM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AIFM1. Mode of pathogenicity for gene AIFM1 was changed from Other - please provide details in the comments to Other Publications for gene: AIFM1 were updated from 20362274 to 23217327; 20362274 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | AGTPBP1 |
Achchuthan Shanmugasundram gene: AGTPBP1 was added gene: AGTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTPBP1 were set to 30420557; 30976113; 31102495; 28600779 Phenotypes for gene: AGTPBP1 were set to NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276 |
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| DDG2P v3.11 | AGPS |
Achchuthan Shanmugasundram Mode of pathogenicity for gene AGPS was changed from Other - please provide details in the comments to Other Publications for gene: AGPS were updated from 7807941; 11152660 to 11152660; 7807941 |
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| DDG2P v3.11 | AGO1 |
Achchuthan Shanmugasundram gene: AGO1 was added gene: AGO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AGO1 were set to 35060114 Phenotypes for gene: AGO1 were set to AGO1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: AGO1 was set to Other |
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| DDG2P v3.11 | AFG3L2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to AFG3L2. Mode of inheritance for gene AFG3L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AFG3L2 were updated from 22964162 to 28449981; 22022284; 31111429; 32248051; 22964162; 32237276 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| DDG2P v3.11 | AFF4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene AFF4 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AFF3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3. Mode of pathogenicity for gene AFF3 was changed from Other - please provide details in the comments to Other Publications for gene: AFF3 were updated from 100000 to 36576140; 33961779; 100000 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ADSL |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ADSL was changed from Other - please provide details in the comments to Other Publications for gene: ADSL were updated from 10090474; 18830228; 6150139; 12016589; 9545543 to 12016589; 18830228; 6150139; 9545543; 10090474 |
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| DDG2P v3.11 | ADRA2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene ADRA2B was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ADK | Achchuthan Shanmugasundram Mode of pathogenicity for gene ADK was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ADCY5 |
Achchuthan Shanmugasundram gene: ADCY5 was added gene: ADCY5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ADCY5 were set to ADCY5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: ADCY5 was set to Other |
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| DDG2P v3.11 | ADARB1 |
Achchuthan Shanmugasundram gene: ADARB1 was added gene: ADARB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADARB1 were set to 32220291 Phenotypes for gene: ADARB1 were set to ADARB1-associated Microcephaly, Intellectual Disability, and Seizures Mode of pathogenicity for gene: ADARB1 was set to Other |
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| DDG2P v3.11 | ADAMTS9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS9. Mode of pathogenicity for gene ADAMTS9 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 | ADAM22 |
Achchuthan Shanmugasundram gene: ADAM22 was added gene: ADAM22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAM22 were set to 35373813 Phenotypes for gene: ADAM22 were set to ADAM22-associated developmental and epileptic encephalopathy |
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| DDG2P v3.11 | ACVR2B | Achchuthan Shanmugasundram Mode of pathogenicity for gene ACVR2B was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACVR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACVR1. Mode of pathogenicity for gene ACVR1 was changed from Other - please provide details in the comments to Other Publications for gene: ACVR1 were updated from 19330033; 16642017; 19085907; 18203193; 18830232 to 16642017; 18830232; 19085907; 18203193; 19330033 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ACTG1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTG1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ACTA2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTA2 was changed from Other - please provide details in the comments to Other Publications for gene: ACTA2 were updated from to 35567597 |
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| DDG2P v3.11 | ACTA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACTA1. Mode of pathogenicity for gene ACTA1 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 | ACO2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACO2. Mode of inheritance for gene ACO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACO2 were updated from 22405087; 34056600 to 28545339; 29577077; 29564393; 22405087; 34056600; 31106992 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ACADS | Achchuthan Shanmugasundram Mode of pathogenicity for gene ACADS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ABL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ABL1. Mode of pathogenicity for gene ABL1 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 | ABHD16A |
Achchuthan Shanmugasundram gene: ABHD16A was added gene: ABHD16A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to 34587489 Phenotypes for gene: ABHD16A were set to ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum |
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| DDG2P v3.11 | ABCC9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCC9 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ABCB7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ABCB6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB6 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.9 | CLCNKA | Sarah Leigh changed review comment from: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.; to: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.8 | CLCNKA | Sarah Leigh Added comment: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.7 | SLC22A5 | Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.7 | SLC22A5 | Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.6 | SLC22A5 | Sarah Leigh reviewed gene: SLC22A5: Rating: ; Mode of pathogenicity: None; Publications: 10545605, 11261427; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.6 | MAP4K4 |
Irina Ziravecka gene: MAP4K4 was added gene: MAP4K4 was added to DDG2P. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to PMID: 37126546 Phenotypes for gene: MAP4K4 were set to neurodevelopmental differences; multiple congenital anomalies Mode of pathogenicity for gene: MAP4K4 was set to Other Review for gene: MAP4K4 was set to GREEN Added comment: PMID: 37126546 - "a cohort of 26 affected individuals from 21 unrelated families with neurodevelopmental differences, cardiac issues, and CFAs who share a phenotype overlap with RASopathies and harbor a series of rare variants in MAP4K4. Functional studies in zebrafish showed that MAP4K4 variants caused hypomorphic, LOF, or DN effects." Sources: Literature |
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| DDG2P v3.6 | AMOTL1 |
Irina Ziravecka edited their review of gene: AMOTL1: Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. 5 out of 16 patients in this cohort have developmental delay.; Changed phenotypes to: orofacial clefting, cardiac anomalies, tall stature, distinct dysmorphisms (abnormal head shape, craniosynostosis, hypertelorism, and large ears), myopia, hearing loss, micrognathia, immune dysfunction, scoliosis, chronic constipation, liver dysfunction, global developmental delay |
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| DDG2P v3.6 | AMOTL1 | Irina Ziravecka Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.6 | AMOTL1 |
Irina Ziravecka changed review comment from: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. Sources: Other; to: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. 5 out of 16 patients in this cohort have developmental delay. |
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| DDG2P v3.6 | AMOTL1 |
Irina Ziravecka gene: AMOTL1 was added gene: AMOTL1 was added to DDG2P. Sources: Other Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMOTL1 were set to PMID: 36751037 Phenotypes for gene: AMOTL1 were set to orofacial clefting; cardiac anomalies; tall stature Mode of pathogenicity for gene: AMOTL1 was set to Other Review for gene: AMOTL1 was set to GREEN Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. Sources: Other |
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| DDG2P v3.2 | DMPK_CTG | Eleanor Williams commented on STR: DMPK_CTG: Removed the Q3_21_rating and Q3_21_expert_review tags because this STR is green on other component panels of the Paediatric disorders superpanel and so does not need to be green here. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.84 | HNRNPR | Eleanor Williams Phenotypes for gene: HNRNPR were changed from INTELLECTUAL DISABILITY 616579 to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.80 | ST3GAL3 | Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090 to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.78 | TPP2 |
Eleanor Williams changed review comment from: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated shortly from that resource where it currently has a 'definitive' level of evidence.; to: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated shortly from that resource where it currently has a 'definitive' level of evidence. |
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| DDG2P v2.78 | RAP1GDS1 | Eleanor Williams changed review comment from: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel.; to: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. It is not currently listed on the DD panel. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.78 | TAF4 | Eleanor Williams Gene: taf4 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.77 | MYH6 | Eleanor Williams changed review comment from: This gene needs further investigation as to the rating when this panel is updated from Gene2Phenotype DD panel.; to: This gene needs further investigation as to the rating when this panel is updated from Gene2Phenotype DD panel. Q3_22 tags added to flag it only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.77 | KPNA3 | Eleanor Williams Gene: kpna3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | HYDIN | Dmitrijs Rots reviewed gene: HYDIN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | CLTC | Anna de Burca reviewed gene: CLTC: Rating: ; Mode of pathogenicity: None; Publications: PubMed: 29100083; Phenotypes: Developmental & epileptic encephalopathies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | EMC1 | Dmitrijs Rots reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35234901; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | GBA | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | KIAA1109 | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | SKIV2L | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | TTC37 | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.75 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from TIMOTHY SYNDROME 601005 to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; CACNA1C-related disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.74 | RPGRIP1 | Dmitrijs Rots reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.74 | DSPP | Dmitrijs Rots reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.74 | BFSP2 | Dmitrijs Rots reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.74 | ACO2 | Sarah Leigh Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.73 | ACO2 | Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.72 | GNAI1 | Arina Puzriakova Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.68 | PEX6 | Sarah Leigh changed review comment from: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; to: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.67 | PEX6 | Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed phenotypes to: 29220678; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.67 | PEX6 | Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal in order to detect the dominant Peroxisome biogenesis disorder 4B. Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.65 | ANO5 | Sarah Leigh reviewed gene: ANO5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.65 | ALPL | Sarah Leigh reviewed gene: ALPL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.60 | XPNPEP3 | Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.60 | XPNPEP3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.58 | XPNPEP3 | Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1 613159 to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | MYH6 | Dmitrijs Rots reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | TERC | Dmitrijs Rots reviewed gene: TERC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | RMRP | Dmitrijs Rots reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | COL6A1 | Dmitrijs Rots reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy, Ulrich myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | PMS2 | Dmitrijs Rots changed review comment from: DD is not part of the phenotype. Red on ID list.; to: DD is not part of the phenotype. Red on ID list. Other MMR deficiency genes are not in the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | PMS2 | Dmitrijs Rots reviewed gene: PMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | AR | Dmitrijs Rots reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy, Androgen insensitivity syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | TPP2 |
Dmitrijs Rots gene: TPP2 was added gene: TPP2 was added to DDG2P. Sources: Literature Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP2 were set to PMID: 25414442 Phenotypes for gene: TPP2 were set to Developmental delay; immunodefficiency; autoimmunity Review for gene: TPP2 was set to GREEN Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion) syndrome are summarized in 25414442, where in 9/14 DD was present, which seems to be a common feature. Sources: Literature |
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| DDG2P v2.55 | RASA1 | Dmitrijs Rots reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | PBX1 | Eleanor Williams Added comment: Comment on list classification: Changing the status to Expert Review Removed, as the content of the panel is only changed when updated from DDG2P sources. The status of this gene on other panels has been checked. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | PBX1 | Eleanor Williams Gene: pbx1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.54 | PBX1 | Eleanor Williams Gene: pbx1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.53 | PBX1 | Eleanor Williams Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.53 | PBX1 | Eleanor Williams Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.53 | FGF5 |
Anna de Burca gene: FGF5 was added gene: FGF5 was added to DDG2P. Sources: Literature Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF5 were set to PMID: 24989505 Phenotypes for gene: FGF5 were set to Hypertrichosis; long eyelashes Penetrance for gene: FGF5 were set to Complete Review for gene: FGF5 was set to GREEN Added comment: Segregates with phenotype in two consanguineous families in publication attached. Additional unpublished case with same phenotype. Sources: Literature |
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| DDG2P v2.53 | CNKSR2 | Dmitrijs Rots reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34266427; Phenotypes: Developmental delay, intellectual disability, seizures; 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 v2.53 | PBX1 |
Dmitrijs Rots gene: PBX1 was added gene: PBX1 was added to DDG2P. Sources: Literature Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Review for gene: PBX1 was set to GREEN Added comment: Syndromic gene. Most of the individuals present with developmental delay, according to OMIM. Sources: Literature |
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| DDG2P v2.53 | PHF6 | Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; 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 v2.53 | DMPK | Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. MOI should be changed to 'Other' to maintain consistency with other panels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | EDNRB | Ivone Leong reviewed gene: EDNRB: Rating: ; Mode of pathogenicity: None; Publications: 7778600, 11891690; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | ATG7 |
Dmitrijs Rots gene: ATG7 was added gene: ATG7 was added to DDG2P. Sources: Literature Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to PMID:34161705 Phenotypes for gene: ATG7 were set to developmental delay; ataxia Review for gene: ATG7 was set to GREEN Added comment: Zornitsa Stark wrote for this gene in Ataxia panel: "12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk. Functional data including mouse model. " Should be also on ID panel. Sources: Literature |
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| DDG2P v2.50 | RAP1GDS1 |
Dmitrijs Rots gene: RAP1GDS1 was added gene: RAP1GDS1 was added to DDG2P. Sources: Literature Mode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAP1GDS1 were set to PMID: 33875846 Phenotypes for gene: RAP1GDS1 were set to Intellectual disability, developmental delay Review for gene: RAP1GDS1 was set to GREEN Added comment: Additional cases (three with same splice variant, which segregates in one family) and one frameshift variant reported in PMID: 33875846. Cases seem to overlap ones reported in PMID: 32431071. Sources: Literature |
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| DDG2P v2.50 | RAB11A | Dmitrijs Rots reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33875846, 26902202; Phenotypes: microcephaly, brain anomalies, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | TAF4 |
Dmitrijs Rots gene: TAF4 was added gene: TAF4 was added to DDG2P. Sources: Literature Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAF4 were set to 33875846 Phenotypes for gene: TAF4 were set to Developmental delay Penetrance for gene: TAF4 were set to unknown Review for gene: TAF4 was set to GREEN Added comment: From the literature: "A heterozygous de novo variant (frameshift) was reported in TAF4 by Kosmicki et al., in a patient with autism.36 The gene has no phenotypic association in OMIM (accessed 12 October 2020). Within this study, we identified two additional de novo LoF variants (splicing and nonsense) in two unrelated patients with dysmorphic features and NDD. TAF4 is highly intolerant to LoF as documented in gnomAD (pLi = 1). Expression of TAF4 varies during development and in the processes of cell differentiation; TAF4 is detected in various regions of the human brain, and it is believed to control the differentiation of human neural progenitor cells having a role in the regulation of neural development and brain function.37 The current data suggests that TAF4 haploinsufficiency leads to NDD in humans." Sources: Literature |
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| DDG2P v2.50 | CRYBB1 | Ivone Leong reviewed gene: CRYBB1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | KPNA3 |
Dmitrijs Rots gene: KPNA3 was added gene: KPNA3 was added to DDG2P. Sources: Literature Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KPNA3 were set to PMID: 34564892 Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay Penetrance for gene: KPNA3 were set to unknown Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KPNA3 was set to GREEN Added comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892 Sources: Literature |
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| DDG2P v2.50 | PLCB4 | Kate Downes reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22560091, PMID: 23315542, PMID: 28328130, PMID: 23913798; Phenotypes: Auriculocondylar syndrome 2 (OMIM: 614669); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | PRDM12 | Sarah Leigh Phenotypes for gene: PRDM12 were changed from HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488 to Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488; congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.49 | ATN1 | Dmitrijs Rots Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.49 | ATN1 | Dmitrijs Rots Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.49 | ATN1 | Dmitrijs Rots reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.49 | TMEM260 | Sarah Leigh edited their review of gene: TMEM260: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least eight variants have been reported in at least six unrelated cases. The variants included: one multi-exon deletion resulting in a frameshift, two smaller frameshifting deletions, two nonsense, one splicing change and two missense changes, one of which was shown by cDNA sequencing to result in skipping of exon 3 (PMID 34612517).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.47 | TMEM260 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.46 | GRIK2 | Ivone Leong reviewed gene: GRIK2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.46 | ALG8 | Sarah Leigh Added comment: Comment on mode of inheritance: Monoallelic variants are associated with Polycystic liver disease 3 with or without kidney cysts OMIM:617874, which is not relevant to this panel. Therefore biallelic moi is relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.44 | GRIN1 | Sarah Leigh changed review comment from: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy, and only one biallelic case has been reported with this phenotype.; to: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1357), and only one biallelic case has been reported with this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.44 | GRIN1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.44 | GRIN1 | Sarah Leigh Added comment: Comment on phenotypes: EPILEPTIC ENCEPHALOPATHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.44 | GRIN1 | Sarah Leigh Phenotypes for gene: GRIN1 were changed from EPILEPTIC ENCEPHALOPATHY to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.43 | GRIN1 | Sarah Leigh Added comment: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy, and only one biallelic case has been reported with this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.41 | KIF1A | Arina Puzriakova Phenotypes for gene: KIF1A were changed from NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255 to NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213; NESCAV SYNDROME, 614255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK gene was demoted and this STR was added to ensure that cases are appropriately captured. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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| DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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| DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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| DDG2P v2.36 | DMPK_CTG | Arina Puzriakova Entity copied from Skeletal muscle channelopathy v1.31 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.35 | DMPK |
Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. However, the evidence level for this expansion is high (it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1), and as DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR will be added to the panel to capture this entity and ensure that cases are detected. |
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| DDG2P v2.34 | ATP6V1A | Arina Puzriakova edited their review of gene: ATP6V1A: Changed rating: GREEN; Changed publications to: 28065471, 33320377, 29668857, 32045939 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.34 | ATP6V1A | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.32 | ATP6V1A |
Arina Puzriakova Added comment: Comment on mode of inheritance: Despite the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of both biallelic and monoallelic variants in ATP6V1A. As DDG2P is a component panel of the Paediatric disorders super panel, the MOI has been updated from 'Biallelic' to 'Both mono- and biallelic' to ensure that all cases are captured. |
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| DDG2P v2.32 | ATP6V1A | Arina Puzriakova Mode of inheritance for gene: ATP6V1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.31 | ATP6V1A | Arina Puzriakova reviewed gene: ATP6V1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.31 | ATP6V1A | Arina Puzriakova Phenotypes for gene: ATP6V1A were changed from Autosomal Recessive Cutis Laxa to Autosomal Recessive Cutis Laxa (AR); Epileptic encephalopathy, infantile or early childhood, 3 (AD) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.30 | ATAD3A |
Arina Puzriakova Added comment: Comment on mode of inheritance: Although the MOI has been set to 'Monoallelic' only, to reflect the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of biallelic variants in ATAD3A. As DDG2P is a component panel of the Paediatric disorders super panel, the MOI should be updated to 'Both mono- and biallelic' to ensure that all cases are captured. |
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| DDG2P v2.29 | DMPK | Dmitrijs Rots reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.29 | SCN8A | Arina Puzriakova Phenotypes for gene: SCN8A were changed from COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.28 | POLR3B | Arina Puzriakova Phenotypes for gene: POLR3B were changed from LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694; AUTOSOMAL RECESSIVE MENTAL RETARDATION to Autosomal recessive mental retardation; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; POLR3B-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.27 | FBN2 | Sarah Leigh commented on gene: FBN2: It would appear from PMIDs 33571691, 25558065 & 28383543 that biallelic variants should be considered for this gene and as such the MOI should be changed to BOTH monallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.27 | FBN2 | Sarah Leigh reviewed gene: FBN2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.22 | ADPRHL2 | Sarah Leigh Added comment: Comment on phenotypes: Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome;Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.22 | ADPRHL2 | Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.20 | CLP1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.19 | CLP1 | Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.15 | H3F3A |
Arina Puzriakova Added comment: Comment on list classification: Changed rating to Green as H3F3A is listed in Gene2Phenotype under the new gene name, H3-3A. Associated with 'Craniofacial with neurodevelopment disorders' with a disease confidence rating of 'confirmed' |
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| DDG2P v2.13 | SOX3 | Arina Puzriakova Phenotypes for gene: SOX3 were changed from MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY 300123; SEX REVERSAL TYPE 3 300833 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.12 | PIGQ | Sarah Leigh Added comment: Comment on phenotypes: According to Joanna Peas-Welch (OMIM), Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) will replace Epileptic encephalopathy, early infantile, 77, 618548 as the name for this phenotype (12/11/2020). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.10 | RINT1 | Dmitrijs Rots Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.10 | RINT1 | Dmitrijs Rots reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31204009; Phenotypes: liver failure, short stature, skeletal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | ABCC9 | Tracy Lester reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 31575858; Phenotypes: mild ID, similar facies, myopathy, cerebral white matter hyperintensities, cardiac systolic dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh commented on gene: SLC12A6: Associated with Agenesis of the corpus callosum with peripheral neuropathy 218000 in OMIM and as confirmed Gen2Phen gene. At least 10 biallelic variants were reported in at least 10 unrelated cases. 9/10 of these variants was terminating (PMID 12368912, 16606917, 17893295). Three de novo heterozygous missense variants have been identified in four unrelated cases with a milder phenotype of early- onset progressive Charcot- Marie-tooth disease (CMT) with or without spasticity (intermediate CMT)(PMID 31439721, 27485015). The authors of PMID 31439721 suggest that "autosomal- dominant inheritance of SLC12A6 variants also needs to be considered in patients with early- onset neuropathies". Furthermore, it will be important to understand the functional differences between the variants, as PMID 27485015 reported variant - p.Thr991Ala, resulted in increased potassium influx in Xenopus oocytes (gain-of-function), while the other missense variants identified so far had a loss-of-function effect in varying degrees (PMID 31439721). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.8 | KMT2E | Rebecca Foulger Added comment: Comment on phenotypes: Removed MIM ID 616579 from phenotype field, as MIM:616579 is associated with a different gene (CHAMP1). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.180 | SHOX | Rebecca Foulger changed review comment from: Current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.; to: Due to a Gene2Phenotype update, the current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.180 | SHOX | Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.179 | SHOX | Rebecca Foulger commented on gene: SHOX: Current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.175 | EDAR | Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.174 | EDAR | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'BIALLELIC' to 'BOTH AD+AR' to match recent DDG2P update, and to be consistent with OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.174 | EDAR | Rebecca Foulger Mode of inheritance for gene: EDAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.171 | KDM6B | Rebecca Foulger Mode of pathogenicity for gene: KDM6B was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.169 | KDM6B | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from BIALLELIC to MONOALLELIC to match MOI of disorder with highest rating (KDM6B-related developmental disorder (monoallelic)). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.167 | FBN1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both monoallelic and biallelic' to 'MONOALLELIC' to match current DDG2P Allelic requirement, which is 'monoallelic' for confirmed MARFAN SYNDROME, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.167 | FBN1 | Rebecca Foulger Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.165 | EMC1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH Monoallelic and biallelic' to just 'BIALLELIC' to match MOI of highest rated disorder (Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.165 | EMC1 | Rebecca Foulger Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.164 | EMC1 |
Rebecca Foulger commented on gene: EMC1: As of November 26th 2019, DDG2P ratings are: probable for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic (biallelic, loss of function). possible for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic (monoallelic, dominant negative). possible for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy (monoallelic, dominant negative. |
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| DDG2P v1.162 | CRYBB1 |
Rebecca Foulger changed review comment from: As of November 26th 2019: DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function); to: As of November 26th 2019: DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES (biallelic, loss of function) |
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| DDG2P v1.160 | CRYBB1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH MONOALLELIC AND BIALLELIC' to 'MONOALLELIC only, to match MOI of confirmed disorder (CATARACT 17, MULTIPLE TYPES, MONOALLELIC). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.160 | CRYBB1 | Rebecca Foulger Mode of inheritance for gene: CRYBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.159 | CRYBB1 |
Rebecca Foulger commented on gene: CRYBB1: As of November 26th 2019: DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function) |
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| DDG2P v1.159 | COMP |
Rebecca Foulger commented on gene: COMP: As of November 26th 2019: DDG2P rating confirmed for PSEUDOACHONDROPLASIA (monoallelic, dominant negative). DDG2P rating possible for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 (monoallelic, dominant negative). Added 'watchlist' tag to highlight different G2P ratings for different disorders. |
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| DDG2P v1.159 | COMP | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorers: dominant negative ; to: Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: dominant negative | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.159 | COMP | Rebecca Foulger Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; PSEUDOACHONDROPLASIA, 177170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.158 | CACNA1G | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from BIALLELIC to MONOALLELIC to reflect MOI of the disorder with the highest disease confidence (CACNA1G-related developmental disorder (monoallelic). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.154 | SIM1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'both MONOALLELIC and BIALLELIC' to just 'MONOALLELIC' to match the Monoallelic MOI of SIM1 on the 'Severe early-onset obesity' panel v2.0. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.154 | SIM1 | Rebecca Foulger Mode of inheritance for gene: SIM1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.153 | GJB2 | Rebecca Foulger Added comment: Comment on list classification: Removed GJB2 from the DDG2P panel, because all gene:disease associations (5 confirmed diseases) have been removed from Gene2Phenotype in October 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.153 | GJB2 | Rebecca Foulger Gene: gjb2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.153 | GJB2 | Rebecca Foulger Added comment: Comment on list classification: Removed GJB2 from the DDG2P panel, because all gene:disease associations (5 confirmed diseases) have been removed from Gene2Phenotype in October 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.153 | GJB2 | Rebecca Foulger Gene: gjb2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | WDR4 | Rebecca Foulger reviewed gene: WDR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | WDFY3 | Rebecca Foulger reviewed gene: WDFY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | TPRKB | Rebecca Foulger reviewed gene: TPRKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | TP53RK | Rebecca Foulger reviewed gene: TP53RK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | SMPD4 | Rebecca Foulger reviewed gene: SMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | NUP133 | Rebecca Foulger reviewed gene: NUP133: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | NPM1 | Rebecca Foulger reviewed gene: NPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | MYRF | Rebecca Foulger reviewed gene: MYRF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | METTL5 | Rebecca Foulger reviewed gene: METTL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | MESD | Rebecca Foulger reviewed gene: MESD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | MAB21L1 | Rebecca Foulger reviewed gene: MAB21L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | LINGO1 | Rebecca Foulger reviewed gene: LINGO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | LAGE3 | Rebecca Foulger reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | KIF14 | Rebecca Foulger reviewed gene: KIF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | KCNT2 | Rebecca Foulger reviewed gene: KCNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | KCNA4 | Rebecca Foulger reviewed gene: KCNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | GRIA4 | Rebecca Foulger reviewed gene: GRIA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | DEGS1 | Rebecca Foulger reviewed gene: DEGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | DACT1 | Rebecca Foulger reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | CDH2 | Rebecca Foulger reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | APC2 | Rebecca Foulger reviewed gene: APC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | WDFY3 |
Rebecca Foulger gene: WDFY3 was added gene: WDFY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDFY3 were set to 31327001 Phenotypes for gene: WDFY3 were set to Primary Microcephaly or macrocephaly with developmental delay |
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| DDG2P v1.151 | TPRKB |
Rebecca Foulger gene: TPRKB was added gene: TPRKB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPRKB were set to 28805828 Phenotypes for gene: TPRKB were set to GALLOWAY-MOWAT SYNDROME 5, 617731 Mode of pathogenicity for gene: TPRKB was set to Other - please provide details in the comments |
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| DDG2P v1.151 | SMPD4 |
Rebecca Foulger gene: SMPD4 was added gene: SMPD4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to 31495489 Phenotypes for gene: SMPD4 were set to Developmental Disorder with Microcephaly and Congenital Arthrogryposis |
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| DDG2P v1.151 | NPM1 |
Rebecca Foulger gene: NPM1 was added gene: NPM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NPM1 were set to 31570891 Phenotypes for gene: NPM1 were set to Dyskeratosis Congenita Mode of pathogenicity for gene: NPM1 was set to Other - please provide details in the comments |
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| DDG2P v1.151 | LINGO1 |
Rebecca Foulger gene: LINGO1 was added gene: LINGO1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LINGO1 were set to 28837161 Phenotypes for gene: LINGO1 were set to LINGO1 related intellectual disability with microcephaly, speech and motor delay |
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| DDG2P v1.151 | LAGE3 |
Rebecca Foulger gene: LAGE3 was added gene: LAGE3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: LAGE3 were set to 28805828 Phenotypes for gene: LAGE3 were set to GALLOWAY-MOWAT SYNDROME 2, 301006 Mode of pathogenicity for gene: LAGE3 was set to Other - please provide details in the comments |
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| DDG2P v1.151 | KCNT2 |
Rebecca Foulger gene: KCNT2 was added gene: KCNT2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNT2 were set to 29740868 Phenotypes for gene: KCNT2 were set to Developmental and infantile epileptic encephalopathy Mode of pathogenicity for gene: KCNT2 was set to Other - please provide details in the comments |
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| DDG2P v1.151 | KCNA4 |
Rebecca Foulger gene: KCNA4 was added gene: KCNA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNA4 were set to KCN4 related abnormal striatum, congenital cataract and intellectual disability. Mode of pathogenicity for gene: KCNA4 was set to Other - please provide details in the comments |
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| DDG2P v1.151 | GRIA4 |
Rebecca Foulger gene: GRIA4 was added gene: GRIA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GRIA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIA4 were set to 29220673 Phenotypes for gene: GRIA4 were set to NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864 Mode of pathogenicity for gene: GRIA4 was set to Other - please provide details in the comments |
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| DDG2P v1.151 | CDH2 |
Rebecca Foulger gene: CDH2 was added gene: CDH2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH2 were set to 31650526; 31585109 Phenotypes for gene: CDH2 were set to Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects Mode of pathogenicity for gene: CDH2 was set to Other - please provide details in the comments |
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| DDG2P v1.148 | CIC | Rebecca Foulger changed review comment from: Original DDG2P rating: possible. DDG2P mode of pathogenicity: uncertain ; to: Original DDG2P rating for CAPICUA, DROSOPHILA, HOMOLOG OF: possible. DDG2P mode of pathogenicity: uncertain. Allelic requirement: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.148 | CIC | Rebecca Foulger changed review comment from: Comment on mode of pathogenicity: Changed MOP to default LOF to match current Mutation consequence in Gene2Phenotype of 'Loss of Function'.; to: Comment on mode of pathogenicity: Changed MOP to default LOF to match Gene2Phenotype update: current Mutation consequence in Gene2Phenotype is 'Loss of Function'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.148 | CIC | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP to default LOF to match current Mutation consequence in Gene2Phenotype of 'Loss of Function'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.148 | CIC | Rebecca Foulger Mode of pathogenicity for gene: CIC was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.146 | FAM58A | Rebecca Foulger commented on gene: FAM58A: The Gene2Phenotype allelic requirement for STAR SYNDROME has been updated to x-linked dominant, to match the recent update in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.146 | AMER1 | Rebecca Foulger commented on gene: AMER1: The Gene2Phenotype allelic requirement for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS has been updated to x-linked dominant, to match the recent update in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.146 | ACTL6B | Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.145 | SLC35A2 | Rebecca Foulger Phenotypes for gene: SLC35A2 were changed from CONGENITAL DISORDER OF GLYCOSYLATION to Epileptic Encephalopathy due to congenital disorder of glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.143 | AMER1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from Monoallelic to X-linked dominant to match other PanelApp panels. Although the Gene2Phenotype inheritance is currently listed as monoallelic, AMER1 is an X-linked gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.143 | AMER1 | Rebecca Foulger Mode of inheritance for gene: AMER1 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 v1.142 | AMER1 | Rebecca Foulger changed review comment from: Original DDG2P rating: both DD and IF. ; to: Original DDG2P rating: both DD and IF for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS. Allelic requirement: monoallelic. Mutation consequence: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.142 | FAM58A | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to X-linked dominant. Although monoallelic inheritance is currently listed in DDG2P for STAR SYNDROME, FAM58A is an X-linked gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.142 | FAM58A | Rebecca Foulger Mode of inheritance for gene: FAM58A 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 v1.141 | DCX | Rebecca Foulger Mode of inheritance for gene: DCX was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.140 | CASK | Rebecca Foulger Mode of inheritance for gene: CASK was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.139 | STAG2 | Rebecca Foulger Mode of inheritance for gene: STAG2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.138 | SLC35A2 | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating: confirmed for Epileptic Encephalopathy due to congenital disorder of glycosylation. DDG2P Allelic requirement: x-linked dominant. DDG2P mutation consequence: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.138 | SLC35A2 | Rebecca Foulger Mode of inheritance for gene: SLC35A2 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 v1.137 | SOX11 | Rebecca Foulger commented on gene: SOX11: The rating of genes on the DDG2P panel directly reflects the Gene2Phenotype Disease confidence. Therefore I have added SOX11 to the panel 'Paediatric disorders - additional genes' as a Green gene based on the review by Alisdair McNeil, so that SOX11 will feature as a Green gene on the 'Paediatric disorders' Super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.132 | ARID1B | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed (for all listed disorders). ; to: Original DDG2P rating: confirmed (for both disorders: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900; COFFIN SIRIS SYNDROME 135900). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | MUT | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for METHYLMALONIC ACIDURIA TYPE MUT: confirmed. DDG2P allelic requirement: biallelic. DDG2P mutation consequence: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | KARS | Rebecca Foulger commented on gene: KARS: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SMCHD1 | Rebecca Foulger commented on gene: SMCHD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Isolated Arhinia/Bosma Arhinia syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | FAM161A | Rebecca Foulger commented on gene: FAM161A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RETINITIS PIGMENTOSA 28. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ALDOB | Rebecca Foulger commented on gene: ALDOB: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HEREDITARY FRUCTOSE INTOLERANCE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | CISD2 | Rebecca Foulger commented on gene: CISD2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for WOLFRAM SYNDROME TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | DARS2 | Rebecca Foulger commented on gene: DARS2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ATP13A2 | Rebecca Foulger commented on gene: ATP13A2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PARKINSON DISEASE 9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SLC4A11 | Rebecca Foulger commented on gene: SLC4A11: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | THAP1 | Rebecca Foulger commented on gene: THAP1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DYSTONIA 6, TORSION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | PDCD10 | Rebecca Foulger commented on gene: PDCD10: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ANO5 | Rebecca Foulger commented on gene: ANO5: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SYNE1 | Rebecca Foulger commented on gene: SYNE1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | AIRE | Rebecca Foulger commented on gene: AIRE: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ACADS | Rebecca Foulger commented on gene: ACADS: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | CLN6 | Rebecca Foulger commented on gene: CLN6: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | GBA | Rebecca Foulger commented on gene: GBA: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 1; GAUCHER DISEASE; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | LDB3 | Rebecca Foulger commented on gene: LDB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CARDIOMYOPATHY DILATED TYPE 1C; LEFT VENTRICULAR NON-COMPACTION TYPE 3; MYOPATHY MYOFIBRILLAR TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | RRM2B | Rebecca Foulger commented on gene: RRM2B: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Mitochondrial depletion syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | AGXT | Rebecca Foulger commented on gene: AGXT: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | KRIT1 | Rebecca Foulger commented on gene: KRIT1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | PLA2G6 | Rebecca Foulger commented on gene: PLA2G6: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for INFANTILE NEUROAXONAL DYSTROPHY 1; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | GJB3 | Rebecca Foulger commented on gene: GJB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SMAD4 | Rebecca Foulger commented on gene: SMAD4: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JUVENILE POLYPOSIS SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | BRCA2 | Rebecca Foulger commented on gene: BRCA2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | AR | Rebecca Foulger commented on gene: AR: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ANDROGEN INSENSITIVITY SYNDROME; SPINAL AND BULBAR MUSCULAR ATROPHY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | FMR1 | Rebecca Foulger commented on gene: FMR1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | BGN | Rebecca Foulger commented on gene: BGN: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | AMER1 | Rebecca Foulger commented on gene: AMER1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ABCD1 | Rebecca Foulger commented on gene: ABCD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ADRENOLEUKODYSTROPHY, X-LINKED. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | TIMM8A | Rebecca Foulger commented on gene: TIMM8A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | MYO7A | Rebecca Foulger commented on gene: MYO7A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | CDH1 | Rebecca Foulger commented on gene: CDH1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Blepharo-cheiro-dontic syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | TGFB2 | Rebecca Foulger commented on gene: TGFB2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | NR5A1 | Rebecca Foulger commented on gene: NR5A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | KCNE1 | Rebecca Foulger commented on gene: KCNE1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | POLD1 | Rebecca Foulger commented on gene: POLD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM . | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | KIT | Rebecca Foulger commented on gene: KIT: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HUMAN PIEBALDISM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | RET | Rebecca Foulger commented on gene: RET: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | MYH8 | Rebecca Foulger commented on gene: MYH8: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DISTAL ARTHROGRYPOSIS TYPE; CARNEY COMPLEX VARIANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | LMNA | Rebecca Foulger commented on gene: LMNA: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LETHAL TIGHT SKIN CONTRACTURE SYNDROME; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE;HUTCHINSON-GILFORD PROGERIA SYNDROME; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED;CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ALAD | Rebecca Foulger commented on gene: ALAD: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ACUTE HEPATIC PORPHYRIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | COL4A1 | Rebecca Foulger commented on gene: COL4A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PORENCEPHALY 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | COL4A2 | Rebecca Foulger commented on gene: COL4A2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PORENCEPHALY 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | HSPD1 | Rebecca Foulger commented on gene: HSPD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LEUKODYSTROPHY HYPOMYELINATING TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SLC4A1 | Rebecca Foulger commented on gene: SLC4A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AR; RENAL TUBULAR ACIDOSIS, DISTAL, AD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ACTA2 | Rebecca Foulger commented on gene: ACTA2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | TARS | Rebecca Foulger reviewed gene: TARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | FAM149B1 | Rebecca Foulger reviewed gene: FAM149B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | LEMD2 | Rebecca Foulger reviewed gene: LEMD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | DHX37 | Rebecca Foulger reviewed gene: DHX37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | DHX34 | Rebecca Foulger reviewed gene: DHX34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | DDX54 | Rebecca Foulger reviewed gene: DDX54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | TAOK1 | Rebecca Foulger reviewed gene: TAOK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | RINT1 | Rebecca Foulger reviewed gene: RINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | BRSK2 | Rebecca Foulger reviewed gene: BRSK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | BNC2 | Rebecca Foulger reviewed gene: BNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | PIGU | Rebecca Foulger reviewed gene: PIGU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | ROBO4 | Rebecca Foulger reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | HNRNPR | Rebecca Foulger reviewed gene: HNRNPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | DLL1 | Rebecca Foulger reviewed gene: DLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | B3GAT3 | Rebecca Foulger reviewed gene: B3GAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | MYOCD | Rebecca Foulger reviewed gene: MYOCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | FBXW11 | Rebecca Foulger reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | PIGB | Rebecca Foulger reviewed gene: PIGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | DHX16 | Rebecca Foulger reviewed gene: DHX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | DYNC1I2 | Rebecca Foulger reviewed gene: DYNC1I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | CDK8 | Rebecca Foulger reviewed gene: CDK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | KCNN3 | Rebecca Foulger reviewed gene: KCNN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | POU3F3 | Rebecca Foulger reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | SMARCD1 | Rebecca Foulger reviewed gene: SMARCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | AP2M1 | Rebecca Foulger reviewed gene: AP2M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | CACNA1B | Rebecca Foulger reviewed gene: CACNA1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | RRAS2 | Rebecca Foulger reviewed gene: RRAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | WDR37 | Rebecca Foulger reviewed gene: WDR37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | POLA1 | Rebecca Foulger reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | GPC4 | Rebecca Foulger reviewed gene: GPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | VAMP2 | Rebecca Foulger reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | POLR2A | Rebecca Foulger reviewed gene: POLR2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | CSF1R | Rebecca Foulger reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | GOT2 | Rebecca Foulger reviewed gene: GOT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | NUP214 | Rebecca Foulger reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | TARS |
Rebecca Foulger gene: TARS was added gene: TARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TARS were set to 31374204 Phenotypes for gene: TARS were set to Non-photosensitive trichothiodystrophy |
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| DDG2P v1.129 | FAM149B1 |
Rebecca Foulger gene: FAM149B1 was added gene: FAM149B1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM149B1 were set to 30905400 Phenotypes for gene: FAM149B1 were set to Ciliopathy-related syndromic intellectual disability |
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| DDG2P v1.129 | LEMD2 |
Rebecca Foulger gene: LEMD2 was added gene: LEMD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LEMD2 were set to 30905398 Phenotypes for gene: LEMD2 were set to Nuclear Envelopathy with Early Progeroid Appearance Mode of pathogenicity for gene: LEMD2 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | DHX37 |
Rebecca Foulger gene: DHX37 was added gene: DHX37 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHX37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHX37 were set to 31256877 Phenotypes for gene: DHX37 were set to Intellectual Disability and Central Nervous System anomalies Mode of pathogenicity for gene: DHX37 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | DHX34 |
Rebecca Foulger gene: DHX34 was added gene: DHX34 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHX34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHX34 were set to 31256877 Phenotypes for gene: DHX34 were set to INTELLECTUAL DISABILITY 616579 Mode of pathogenicity for gene: DHX34 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | DDX54 |
Rebecca Foulger gene: DDX54 was added gene: DDX54 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DDX54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX54 were set to 31256877 Phenotypes for gene: DDX54 were set to Intellectual Disability and Central Nervous System anomalies Mode of pathogenicity for gene: DDX54 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | PIGU |
Rebecca Foulger gene: PIGU was added gene: PIGU was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIGU were set to 31353022 Phenotypes for gene: PIGU were set to Intellectual Disability, Central Nervous System anomalies and Scoliosis Mode of pathogenicity for gene: PIGU was set to Other - please provide details in the comments |
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| DDG2P v1.129 | B3GAT3 |
Rebecca Foulger gene: B3GAT3 was added gene: B3GAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GAT3 were set to 31438591 Phenotypes for gene: B3GAT3 were set to MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600 Mode of pathogenicity for gene: B3GAT3 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | MYOCD |
Rebecca Foulger gene: MYOCD was added gene: MYOCD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYOCD were set to 31513549 Phenotypes for gene: MYOCD were set to Congenital megabladder |
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| DDG2P v1.129 | FBXW11 |
Rebecca Foulger gene: FBXW11 was added gene: FBXW11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXW11 were set to 31402090 Phenotypes for gene: FBXW11 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: FBXW11 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | PIGB |
Rebecca Foulger gene: PIGB was added gene: PIGB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGB were set to 31256876 Phenotypes for gene: PIGB were set to Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality |
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| DDG2P v1.129 | DHX16 |
Rebecca Foulger gene: DHX16 was added gene: DHX16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHX16 were set to 31256877 Phenotypes for gene: DHX16 were set to Intellectual Disability, Central Nervous System anomalies and Seizures Mode of pathogenicity for gene: DHX16 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | DYNC1I2 |
Rebecca Foulger gene: DYNC1I2 was added gene: DYNC1I2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC1I2 were set to 31079899 Phenotypes for gene: DYNC1I2 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 618492 |
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| DDG2P v1.129 | CDK8 |
Rebecca Foulger gene: CDK8 was added gene: CDK8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK8 were set to 30905399 Phenotypes for gene: CDK8 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: CDK8 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | KCNN3 |
Rebecca Foulger gene: KCNN3 was added gene: KCNN3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNN3 were set to 31155282 Phenotypes for gene: KCNN3 were set to ZIMMERMANN-LABAND SYNDROME Mode of pathogenicity for gene: KCNN3 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | POU3F3 |
Rebecca Foulger gene: POU3F3 was added gene: POU3F3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POU3F3 were set to 31303265 Phenotypes for gene: POU3F3 were set to INTELLECTUAL DISABILITY 616579 Mode of pathogenicity for gene: POU3F3 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | SMARCD1 |
Rebecca Foulger gene: SMARCD1 was added gene: SMARCD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCD1 were set to 30879640 Phenotypes for gene: SMARCD1 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: SMARCD1 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | AP2M1 |
Rebecca Foulger gene: AP2M1 was added gene: AP2M1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AP2M1 were set to 31104773 Phenotypes for gene: AP2M1 were set to Developmental and Epileptic Encephalopathy Mode of pathogenicity for gene: AP2M1 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | CACNA1B |
Rebecca Foulger gene: CACNA1B was added gene: CACNA1B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1B were set to 30982612 Phenotypes for gene: CACNA1B were set to NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 618497 |
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| DDG2P v1.129 | RRAS2 |
Rebecca Foulger gene: RRAS2 was added gene: RRAS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAS2 were set to 31130282; 31130285; 24705357 Phenotypes for gene: RRAS2 were set to Noonan syndrome Mode of pathogenicity for gene: RRAS2 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | WDR37 |
Rebecca Foulger gene: WDR37 was added gene: WDR37 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDR37 were set to 31327508; 31327510 Phenotypes for gene: WDR37 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: WDR37 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | VAMP2 |
Rebecca Foulger gene: VAMP2 was added gene: VAMP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VAMP2 were set to 30929742 Phenotypes for gene: VAMP2 were set to INTELLECTUAL DISABILITY 616579 Mode of pathogenicity for gene: VAMP2 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | POLR2A |
Rebecca Foulger gene: POLR2A was added gene: POLR2A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR2A were set to 31353023 Phenotypes for gene: POLR2A were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: POLR2A was set to Other - please provide details in the comments |
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| DDG2P v1.129 | GOT2 |
Rebecca Foulger gene: GOT2 was added gene: GOT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOT2 were set to 31422819 Phenotypes for gene: GOT2 were set to Malate-Aspartate Shuttle-Related Encephalopathy Mode of pathogenicity for gene: GOT2 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | NUP214 |
Rebecca Foulger gene: NUP214 was added gene: NUP214 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP214 were set to 31178128 Phenotypes for gene: NUP214 were set to Acute Febrile Encephalopathy 618426 |
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| DDG2P v1.128 | SOX11 | alisdair mcneill reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.127 | SNORD118 | Rebecca Foulger Phenotypes for gene: SNORD118 were changed from Leukoencephalopathy with cerebral calcification & cysts to Leukoencephalopathy with cerebral calcification & cysts 614561 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.126 | SNORD118 | Rebecca Foulger changed review comment from: Original DDG2P rating: both DD and IF. ; to: Original DDG2P rating for Leukoencephalopathy with cerebral calcification & cysts: both DD and IF. DDG2P Mutation consequence: loss of function; DDG2P allelic requirement: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.126 | SNORD118 | Rebecca Foulger commented on gene: SNORD118: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'both RD and IF' for Leukoencephalopathy with cerebral calcification & cysts. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.126 | MYH6 | Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.126 | MYH6 | Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder).; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.126 | MYH6 | Rebecca Foulger Phenotypes for gene: MYH6 were changed from CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 160710 to CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 614089 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.125 | MYH6 | Rebecca Foulger commented on gene: MYH6: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.125 | BRCA1 | Rebecca Foulger commented on gene: BRCA1: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.123 | KDM5B | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from 'monoallelic' to 'BOTH monoallelic and biallelic' to match the September 2019 DDG2P update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.123 | KDM5B | Rebecca Foulger Mode of inheritance for gene: KDM5B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.122 | KDM5B | Rebecca Foulger Added comment: Comment on list classification: Updated rating of KDM5B from Red to Amber: A DDG2P update (September 2019) has changed the rating from 'possible' to 'probable'. The Mode of inheritance was also changed in the September 2019 update from monoallelic to both monoallelic and biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.121 | ACTL6B | Rebecca Foulger Added comment: Comment on list classification: Updated rating of ACTL6B from Red to Green, to match 'confirmed' rating of new DDG2P disorder: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.120 | ACTL6B | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP from 'Other' to default, since the confirmed (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) disorder has loss of function listed as the DDG2P mutation consequence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.120 | ACTL6B | Rebecca Foulger Mode of pathogenicity for gene: ACTL6B was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.119 | ACTL6B | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to BIALLELIC to match the MOI of the confirmed disorder. Only the new biallelic disorder (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) has a 'confirmed' rating. Both monoallelic disorders have 'possible' ratings. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.118 | ACTL6B |
Rebecca Foulger commented on gene: ACTL6B: Two new gene:disorder associations added to DDG2P for ACTL6B, September 2019: New gene:disorder association: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function; DDG2P allelic requirement: biallelic. New gene:disorder association: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS. Disease confidence rating in DDG2P: possible. DDG2P mutation consequence: all missense/in frame; DDG2P allelic requirement: monoallelic. |
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| DDG2P v1.117 | ACTL6B | Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder to Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.116 | ACTL6B | Rebecca Foulger changed review comment from: Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame ; to: Original DDG2P rating for Unspecified Neurodevelopmental Disorder: possible. DDG2P mode of pathogenicity: all missense/in frame; DG2P allelic requirement: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.114 | KMT2E | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for INTELLECTUAL DISABILITY: confirmed. DDG2P Mode of Pathogenicity/Mutation consequence: loss of function; DDG2P Mode of inheritance/allelic requirement: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.112 | NBAS | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD: confirmed. DDG2P Mode of Pathogenicity: loss of function; DDG2P Mode of Inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.111 | CNOT1 | Rebecca Foulger Phenotypes for gene: CNOT1 were changed from pancreatic agenesis and holoprosencephaly syndrome to pancreatic agenesis and holoprosencephaly syndrome; HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 618500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.110 | CNOT1 | Rebecca Foulger commented on gene: CNOT1: New gene:disorder association added to DDG2P for CNOT1, September 2019: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS. Disease confidence rating in DDG2P: probable; DDG2P mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.110 | SCN11A | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: activating ; to: Original DDG2P rating for CONGENITAL INABILITY TO EXPERIENCE PAIN: confirmed. DDG2P mode of pathogenicity: activating. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.110 | SCN11A | Rebecca Foulger commented on gene: SCN11A: New gene:disorder association added to DDG2P for SCN11A, September 2019: EPISODIC PAIN SYNDROME, FAMILIAL. Disease confidence rating in DDG2P: both RD and IF; DDG2P mutation consequence: activating. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.109 | FLNA | Rebecca Foulger Phenotypes for gene: FLNA were changed from FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244 to PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049; FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.105 | TUBB | Rebecca Foulger Phenotypes for gene: TUBB were changed from Circumferential Skin Creases Kunze Type; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 to Circumferential Skin Creases Kunze Type 156610; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.104 | TPM2 | Rebecca Foulger Phenotypes for gene: TPM2 were changed from ARTHROGRYPOSIS, DISTAL, TYPE 1 to ARTHROGRYPOSIS, DISTAL, TYPE 1 108120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.102 | TGFBR1 | Rebecca Foulger Phenotypes for gene: TGFBR1 were changed from LOEYS-DIETZ SYNDROME TYPE 2A 608967; LOEYS-DIETZ SYNDROME TYPE 1A 609192; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 608967 to LOEYS-DIETZ SYNDROME TYPE 2A 608967; LOEYS-DIETZ SYNDROME TYPE 1A 609192; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 609192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.99 | PAX9 | Rebecca Foulger Phenotypes for gene: PAX9 were changed from TOOTH AGENESIS, SELECTIVE, 3 318869 to TOOTH AGENESIS, SELECTIVE, 3 604625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.97 | MYH9 | Rebecca Foulger Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622; SEBASTIAN SYNDROME 605249; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 600208; EPSTEIN SYNDROME 153650; MAY-HEGGLIN ANOMALY 155100; FECHTNER SYNDROME 153640 to DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622; SEBASTIAN SYNDROME 155100; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100; EPSTEIN SYNDROME 155100; MAY-HEGGLIN ANOMALY 155100; FECHTNER SYNDROME 155100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.96 | MITF | Rebecca Foulger Phenotypes for gene: MITF were changed from Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.95 | LAMA1 | Rebecca Foulger Phenotypes for gene: LAMA1 were changed from CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY; AUTOSOMAL RECESSIVE MENTAL RETARDATION to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960; AUTOSOMAL RECESSIVE MENTAL RETARDATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.92 | FGFR1 | Rebecca Foulger Phenotypes for gene: FGFR1 were changed from PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis to PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome 615465; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis 613001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.91 | FN1 | Rebecca Foulger Phenotypes for gene: FN1 were changed from Spondylometaphyseal Dysplasia with Corner Fractures to Spondylometaphyseal Dysplasia with Corner Fractures 184255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.90 | EDNRA | Rebecca Foulger Phenotypes for gene: EDNRA were changed from MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 616367 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.83 | CDH3 | Rebecca Foulger Phenotypes for gene: CDH3 were changed from EEM SYNDROME 280238; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 to EEM SYNDROME 225280; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.82 | ACTA1 | Rebecca Foulger Phenotypes for gene: ACTA1 were changed from NEMALINE MYOPATHY 3 to NEMALINE MYOPATHY 3, 161800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.81 | CYP27A1 |
Rebecca Foulger gene: CYP27A1 was added gene: CYP27A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 2019602; 16278884 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis |
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| DDG2P v1.81 | ANAPC1 |
Rebecca Foulger gene: ANAPC1 was added gene: ANAPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1 |
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| DDG2P v1.80 | SETD1B | Rebecca Foulger reviewed gene: SETD1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.78 | MYPN | Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DD-G2P rating for Childhood-Onset, Slowly Progressive Nemaline Myopathy: child IF.; to: Original DDG2P rating for Childhood-Onset, Slowly Progressive Nemaline Myopathy: child IF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.78 | PIH1D3 | Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF.; to: Original DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | THAP1 |
Rebecca Foulger Source Expert Review Green was added to THAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | BGN | Rebecca Foulger commented on gene: BGN: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | ANO5 | Rebecca Foulger commented on gene: ANO5: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | FMR1 | Rebecca Foulger commented on gene: FMR1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | SMAD4 | Rebecca Foulger commented on gene: SMAD4: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. SMAD4 also rated 'confirmed' for MYHRE SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | TIMM8A | Rebecca Foulger commented on gene: TIMM8A: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | THAP1 | Rebecca Foulger commented on gene: THAP1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | TGFB2 | Rebecca Foulger commented on gene: TGFB2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | SYNE1 | Rebecca Foulger commented on gene: SYNE1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | SNORD118 | Rebecca Foulger commented on gene: SNORD118: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | SMCHD1 | Rebecca Foulger commented on gene: SMCHD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | SLC4A11 | Rebecca Foulger commented on gene: SLC4A11: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | SLC4A1 | Rebecca Foulger commented on gene: SLC4A1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | RRM2B | Rebecca Foulger commented on gene: RRM2B: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | RET | Rebecca Foulger commented on gene: RET: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | POLD1 | Rebecca Foulger commented on gene: POLD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | PLA2G6 | Rebecca Foulger commented on gene: PLA2G6: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | PDCD10 | Rebecca Foulger commented on gene: PDCD10: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | NR5A1 | Rebecca Foulger commented on gene: NR5A1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | MYO7A | Rebecca Foulger commented on gene: MYO7A: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | MYH8 | Rebecca Foulger commented on gene: MYH8: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | MYH6 | Rebecca Foulger commented on gene: MYH6: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | LMNA | Rebecca Foulger commented on gene: LMNA: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | LDB3 | Rebecca Foulger commented on gene: LDB3: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | KRIT1 | Rebecca Foulger commented on gene: KRIT1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | KIT | Rebecca Foulger commented on gene: KIT: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | KARS | Rebecca Foulger commented on gene: KARS: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | HSPD1 | Rebecca Foulger commented on gene: HSPD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | GJB3 | Rebecca Foulger commented on gene: GJB3: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | GBA | Rebecca Foulger commented on gene: GBA: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | FAM161A | Rebecca Foulger commented on gene: FAM161A: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | DARS2 | Rebecca Foulger commented on gene: DARS2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | COL4A2 | Rebecca Foulger commented on gene: COL4A2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | COL4A1 | Rebecca Foulger commented on gene: COL4A1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | CLN6 | Rebecca Foulger commented on gene: CLN6: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | CISD2 | Rebecca Foulger commented on gene: CISD2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | CDH1 | Rebecca Foulger commented on gene: CDH1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | BRCA2 | Rebecca Foulger commented on gene: BRCA2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | BRCA1 | Rebecca Foulger commented on gene: BRCA1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | ATP13A2 | Rebecca Foulger commented on gene: ATP13A2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | AR | Rebecca Foulger commented on gene: AR: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | AMER1 | Rebecca Foulger commented on gene: AMER1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | ALDOB | Rebecca Foulger commented on gene: ALDOB: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | ALAD | Rebecca Foulger commented on gene: ALAD: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | AIRE | Rebecca Foulger commented on gene: AIRE: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | AGXT | Rebecca Foulger commented on gene: AGXT: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | ACTA2 | Rebecca Foulger commented on gene: ACTA2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | ACADS | Rebecca Foulger commented on gene: ACADS: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | ABCD1 | Rebecca Foulger commented on gene: ABCD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.75 | PCDH19 | Rebecca Foulger Added comment: Comment on mode of inheritance: Note that the allelic requirement for PCDH19 in Gene2Phenotype is x-linked over-dominance. Note from Anna de Burca (Genomics England clinical team): PCDH19 only causes epilepsy in heterozygous females, and hemizygous males are unaffected. For the purposes of the pipeline, use 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease' to ensure that females with a variant are not missed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.75 | PCDH19 | Rebecca Foulger Mode of inheritance for gene: PCDH19 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.74 | PCDH19 | Rebecca Foulger Mode of inheritance for gene: PCDH19 was changed from x-linked over-dominance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.72 | RAD51 | Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Red to reflect a change in DD-G2P Disease confidence from probable to possible in June 2019. Disease remains as: MIRROR MOVEMENTS 2. Mode of inheritance remains as: monoallelic. Mode of pathogenicity remains as: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.69 | CHD3 | Rebecca Foulger Added comment: Comment on phenotypes: Replaced phenotype 'Apraxia of speech' with 'Macrocephaly and impaired speech and language' to reflect June 2019 DD-G2P update for CHD3. Disease confidence rating remains as: probable. Mode of inheritance remains as: monoallelic. Mode of pathogenicity remains as: all missense/in frame. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.66 | FMR1 | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P mode of inheritance is hemizygous for FRAGILE X SYNDROME (confirmed); hemizygous for FRAGILE X TREMOR/ATAXIA SYNDROME (both DD and IF); x-linked dominant for PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 (both DD and IF). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.66 | FMR1 | Rebecca Foulger Mode of inheritance for gene: FMR1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.65 | EFNB1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from 'x-linked over-dominance' to standardised PanelApp term for X-linked dominant; this matches the MOI of EFNB1 on other PanelApp panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.65 | EFNB1 | Rebecca Foulger Mode of inheritance for gene: EFNB1 was changed from x-linked over-dominance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.64 | ADAR | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is biallelic for SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; monoallelic for SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY. Both disorders have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.64 | ADAR | Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.63 | ADAR | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is both monoallelic and biallelic for AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; monoallelic for DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1. Both disorders have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.63 | ADAR | Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.62 | ALDH18A1 | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is monoallelic for CUTIS LAXA, AUTOSOMAL DOMINANT 3;biallelic for MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; monoallelic for SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT. All disorders have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.62 | ALDH18A1 | Rebecca Foulger Mode of inheritance for gene: ALDH18A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.61 | FBN1 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as both monoallelic (dominant negative) and biallelic (loss of function) for confirmed MARFAN SYNDROME; monoallelic for confirmed MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; monoallelic for confirmed SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.61 | FBN1 | Rebecca Foulger Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.60 | GJC2 | Rebecca Foulger Mode of inheritance for gene: GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.59 | IHH | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for ACROCAPITOFEMORAL DYSPLASIA; confirmed for BRACHYDACTYLY, TYPE A1. Both diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.59 | IHH | Rebecca Foulger Mode of inheritance for gene: IHH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.58 | ITPR1 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as both monoallelic (dominant negative) and biallelic (loss of function) for confirmed Gillespie Syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.58 | ITPR1 | Rebecca Foulger Mode of inheritance for gene: ITPR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.57 | KIF1A | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is listed as monoallelic for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (all missense/in frame); biallelic for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (loss of function). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.57 | KIF1A | Rebecca Foulger Mode of inheritance for gene: KIF1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.56 | LRP5 | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P lists MOI as monoallelic for ENDOSTEAL HYPEROSTOSIS WORTH TYPE; monoallelic for HIGH BONE MASS TRAIT; monoallelic for OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1; biallelic for OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; monoallelic for VITREORETINOPATHY EXUDATIVE TYPE 4. All diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.56 | LRP5 | Rebecca Foulger Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.55 | MAB21L2 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MICROPHTHALMIA, SYNDROMIC 14 is listed as monoallelic for an activating mutation consequence, and biallelic for a LOF mutation consequence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.55 | MAB21L2 | Rebecca Foulger Mode of inheritance for gene: MAB21L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.54 | MMP13 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for METAPHYSEAL ANADYSPLASIA TYPE 1; monoallelic for SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE. Both diseases have a Confirmed Disease Confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.54 | MMP13 | Rebecca Foulger Mode of inheritance for gene: MMP13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.53 | NALCN | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; biallelic for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; biallelic for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY. All diseases have a Confirmed Disease Confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.53 | NALCN | Rebecca Foulger Mode of inheritance for gene: NALCN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.52 | PIEZO2 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for ARTHROGRYPOSIS, DISTAL, TYPE 3; biallelic for Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception. Both diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.52 | PIEZO2 | Rebecca Foulger Mode of inheritance for gene: PIEZO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.51 | PIK3R1 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; monoallelic for SHORT SYNDROME. Both syndromes have a Disease confidence rating of 'confirmed'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.51 | PIK3R1 | Rebecca Foulger Mode of inheritance for gene: PIK3R1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.50 | PTH1R | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for CHONDRODYSPLASIA BLOMSTRAND TYPE; biallelic for EIKEN SKELETAL DYSPLASIA; monoallelic for ANSEN METAPHYSEAL CHONDRODYSPLASIA; monoallelic for PRIMARY FAILURE OF TOOTH ERUPTION. All diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.50 | PTH1R | Rebecca Foulger Mode of inheritance for gene: PTH1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.49 | FLNA | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is listed as hemizygous mosaic for Childhood Interstitial Lung Disease; x-linked dominant for EPILEPTIC ENCEPHALOPATHY; hemizygous for FG SYNDROME TYPE 2; x-linked dominant for MELNICK-NEEDLES SYNDROME; hemizygous for FRONTOMETAPHYSEAL DYSPLASIA; hemizygous for OTOPALATODIGITAL SYNDROME TYPE 1; hemizygous for OTOPALATODIGITAL SYNDROME TYPE 2; hemizygous for TERMINAL OSSEOUS DYSPLASIA; hemizygous for X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION. All disorders have a Confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.49 | FLNA | Rebecca Foulger Mode of inheritance for gene: FLNA was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.48 | IKBKG | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P records an MOI of hemizygous for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1. DDG2P records an MOI of monoallelic for INCONTINENTIA PIGMENTI 308300. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.48 | IKBKG | Rebecca Foulger Mode of inheritance for gene: IKBKG was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.47 | NSDHL | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, the MOI is recorded as hemizygous for CK SYNDROME and x-linked dominant for CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.47 | NSDHL | Rebecca Foulger Mode of inheritance for gene: NSDHL was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.46 | PDHA1 | Rebecca Foulger Added comment: Comment on mode of inheritance: IN DDG2P, the MOI is listed as hemizygous for INTELLECTUAL DISABILTIY (note typo in DDG2P disease name); x-linked dominant for PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; hemizygous for X-LINKED LEIGH SYNDROME. All disorders have a confirmed Disease confidence rating. Therefore have selected an X-linked dominant MOI in PanelApp so all cases can be caught. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.46 | PDHA1 | Rebecca Foulger Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.44 | SMAD6 | Rebecca Foulger Added comment: Comment on list classification: Updated rating of SMAD6 from Amber to Red following a rating change in DD-G2P (DD-G2P panel downloaded May 9th 2019). The original DDG2P Disease confidence of 'probable' was replaced with a new Disease confidence of 'possible' for Non-syndromic craniosynostosis. Mode of inheritance remains as: monoallelic. Mode of pathogenicity/mutation consequence remains as: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.43 | CNOT1 | Rebecca Foulger reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.43 | HNRNPK | Rebecca Foulger reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.42 | CNOT1 |
Rebecca Foulger gene: CNOT1 was added gene: CNOT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNOT1 were set to 31006510; 31006513 Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments |
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| DDG2P v1.41 | SIM1 | Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.41 | SIM1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD inheritance in OMIM for Obesity, severe (MIM:601665). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.41 | SIM1 | Rebecca Foulger Mode of inheritance for gene: SIM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.40 | SPTBN2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Multiple MOIs for different disorders in DD-Gene2Phenotype: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.39 | SPTBN2 | Rebecca Foulger commented on gene: SPTBN2: Added 'watchlist' tag to highlight multiple Disease confidence ratings in DD-G2P. Rated confirmed for 'SCA14'. Rated probable for 'Infantile ataxia with oculomotor and pyramidal signs'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.39 | C11orf70 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the DDG2P panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ZMIZ1 | Rebecca Foulger reviewed gene: ZMIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | WASF1 | Rebecca Foulger reviewed gene: WASF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | VPS53 | Rebecca Foulger reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | TRRAP | Rebecca Foulger reviewed gene: TRRAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | TRPV6 | Rebecca Foulger reviewed gene: TRPV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | TOP3A | Rebecca Foulger reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | TMEM94 | Rebecca Foulger reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | SUZ12 | Rebecca Foulger reviewed gene: SUZ12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | SPTBN2 | Rebecca Foulger reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | SOX4 | Rebecca Foulger reviewed gene: SOX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | SMARCC2 | Rebecca Foulger reviewed gene: SMARCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | SIM1 | Rebecca Foulger reviewed gene: SIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | SEPSECS | Rebecca Foulger reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | RNF13 | Rebecca Foulger reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | RMI1 | Rebecca Foulger reviewed gene: RMI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | RHOBTB2 | Rebecca Foulger reviewed gene: RHOBTB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | PUS7 | Rebecca Foulger reviewed gene: PUS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | PRR12 | Rebecca Foulger reviewed gene: PRR12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | PPP2CA | Rebecca Foulger reviewed gene: PPP2CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | PMPCB | Rebecca Foulger reviewed gene: PMPCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | PIGS | Rebecca Foulger reviewed gene: PIGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | PAK1 | Rebecca Foulger reviewed gene: PAK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | NPR3 | Rebecca Foulger reviewed gene: NPR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | NDUFB8 | Rebecca Foulger reviewed gene: NDUFB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | NDUFA6 | Rebecca Foulger reviewed gene: NDUFA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | NCAPG2 | Rebecca Foulger reviewed gene: NCAPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | NBEA | Rebecca Foulger reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | MYF5 | Rebecca Foulger reviewed gene: MYF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | MRPS2 | Rebecca Foulger reviewed gene: MRPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | MED13 | Rebecca Foulger reviewed gene: MED13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | MAPK8IP3 | Rebecca Foulger reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | MACF1 | Rebecca Foulger reviewed gene: MACF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | LNPK | Rebecca Foulger reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | IRF2BPL | Rebecca Foulger reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | GAS2L2 | Rebecca Foulger reviewed gene: GAS2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | FUT8 | Rebecca Foulger reviewed gene: FUT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | FUK | Rebecca Foulger reviewed gene: FUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | FDFT1 | Rebecca Foulger reviewed gene: FDFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | EXTL3 | Rebecca Foulger reviewed gene: EXTL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | EXOSC9 | Rebecca Foulger reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | EPRS | Rebecca Foulger reviewed gene: EPRS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | DNAH9 | Rebecca Foulger reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | DHPS | Rebecca Foulger reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | CNPY3 | Rebecca Foulger reviewed gene: CNPY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | C11orf70 | Rebecca Foulger reviewed gene: C11orf70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | CCNK | Rebecca Foulger reviewed gene: CCNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | CCDC47 | Rebecca Foulger reviewed gene: CCDC47: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | CARS | Rebecca Foulger reviewed gene: CARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ATP6V1E1 | Rebecca Foulger reviewed gene: ATP6V1E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ATP6V1A | Rebecca Foulger reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ATP5D | Rebecca Foulger reviewed gene: ATP5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ATP1A1 | Rebecca Foulger reviewed gene: ATP1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ATN1 | Rebecca Foulger reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ARL3 | Rebecca Foulger reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ADPRHL2 | Rebecca Foulger reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ADAMTS9 | Rebecca Foulger reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | WASF1 |
Rebecca Foulger gene: WASF1 was added gene: WASF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WASF1 were set to 29961568 Phenotypes for gene: WASF1 were set to Intellectual Disability with Seizures |
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| DDG2P v1.37 | TRRAP |
Rebecca Foulger gene: TRRAP was added gene: TRRAP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRRAP were set to 30827496 Phenotypes for gene: TRRAP were set to Autism and Syndromic Intellectual Disability Mode of pathogenicity for gene: TRRAP was set to Other - please provide details in the comments |
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| DDG2P v1.37 | TRPV6 |
Rebecca Foulger gene: TRPV6 was added gene: TRPV6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV6 were set to 29861107 Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism |
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| DDG2P v1.37 | SUZ12 |
Rebecca Foulger gene: SUZ12 was added gene: SUZ12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUZ12 were set to 30019515; 28229514 Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome |
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| DDG2P v1.37 | SPTBN2 |
Rebecca Foulger gene: SPTBN2 was added gene: SPTBN2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 25981959; 22914369; 29795474 Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs |
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| DDG2P v1.37 | SOX4 |
Rebecca Foulger gene: SOX4 was added gene: SOX4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX4 were set to 30661772 Phenotypes for gene: SOX4 were set to Neurodevelopmental Disease Associated with Mild Dysmorphism Mode of pathogenicity for gene: SOX4 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | SIM1 |
Rebecca Foulger gene: SIM1 was added gene: SIM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SIM1 was set to Publications for gene: SIM1 were set to 28472148; 23778136; 23778139 Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features |
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| DDG2P v1.37 | RNF13 |
Rebecca Foulger gene: RNF13 was added gene: RNF13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF13 were set to 30595371 Phenotypes for gene: RNF13 were set to Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive Mode of pathogenicity for gene: RNF13 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | RHOBTB2 |
Rebecca Foulger gene: RHOBTB2 was added gene: RHOBTB2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RHOBTB2 were set to 29276004 Phenotypes for gene: RHOBTB2 were set to Developmental and Epileptic Encephalopathy Mode of pathogenicity for gene: RHOBTB2 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | PUS7 |
Rebecca Foulger gene: PUS7 was added gene: PUS7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to 30526862 Phenotypes for gene: PUS7 were set to Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior |
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| DDG2P v1.37 | PPP2CA |
Rebecca Foulger gene: PPP2CA was added gene: PPP2CA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2CA were set to 30595372 Phenotypes for gene: PPP2CA were set to Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders |
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| DDG2P v1.37 | PMPCB |
Rebecca Foulger gene: PMPCB was added gene: PMPCB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCB were set to 29576218 Phenotypes for gene: PMPCB were set to Neurodegeneration in Early Childhood Mode of pathogenicity for gene: PMPCB was set to Other - please provide details in the comments |
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| DDG2P v1.37 | PIGS |
Rebecca Foulger gene: PIGS was added gene: PIGS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to 30269814 Phenotypes for gene: PIGS were set to Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy |
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| DDG2P v1.37 | PAK1 |
Rebecca Foulger gene: PAK1 was added gene: PAK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAK1 were set to 30290153 Phenotypes for gene: PAK1 were set to Neurodevelopmental Disorder Mode of pathogenicity for gene: PAK1 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | NPR3 |
Rebecca Foulger gene: NPR3 was added gene: NPR3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR3 were set to 30032985 Phenotypes for gene: NPR3 were set to Enhanced Growth and Connective Tissue Abnormalities |
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| DDG2P v1.37 | NCAPG2 |
Rebecca Foulger gene: NCAPG2 was added gene: NCAPG2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPG2 were set to 30609410 Phenotypes for gene: NCAPG2 were set to Severe Neurodevelopmental Syndrome Mode of pathogenicity for gene: NCAPG2 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | NBEA |
Rebecca Foulger gene: NBEA was added gene: NBEA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NBEA were set to 30269351 Phenotypes for gene: NBEA were set to NBEA Neurodevelopment disorder with seizures |
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| DDG2P v1.37 | MYF5 |
Rebecca Foulger gene: MYF5 was added gene: MYF5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYF5 were set to 29887215 Phenotypes for gene: MYF5 were set to External Ophthalmoplegia Rib and Vertebral Anomalies |
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| DDG2P v1.37 | MRPS2 |
Rebecca Foulger gene: MRPS2 was added gene: MRPS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS2 were set to 29576219 Phenotypes for gene: MRPS2 were set to Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies Mode of pathogenicity for gene: MRPS2 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | MAPK8IP3 |
Rebecca Foulger gene: MAPK8IP3 was added gene: MAPK8IP3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK8IP3 were set to 30612693 Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with Variable Brain Anomalies |
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| DDG2P v1.37 | MACF1 |
Rebecca Foulger gene: MACF1 was added gene: MACF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MACF1 were set to 30471716 Phenotypes for gene: MACF1 were set to Defects in Neuronal Migration and Axon Guidance Mode of pathogenicity for gene: MACF1 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | FUT8 |
Rebecca Foulger gene: FUT8 was added gene: FUT8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUT8 were set to 29304374 Phenotypes for gene: FUT8 were set to Congenital Disorder of Glycosylation with Defective Fucosylation |
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| DDG2P v1.37 | FUK |
Rebecca Foulger gene: FUK was added gene: FUK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUK were set to 30503518 Phenotypes for gene: FUK were set to CONGENITAL DISORDER OF GLYCOSYLATION Mode of pathogenicity for gene: FUK was set to Other - please provide details in the comments |
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| DDG2P v1.37 | FDFT1 |
Rebecca Foulger gene: FDFT1 was added gene: FDFT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDFT1 were set to 29909962 Phenotypes for gene: FDFT1 were set to Defect in Cholesterol Biosynthesis |
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| DDG2P v1.37 | EXTL3 |
Rebecca Foulger gene: EXTL3 was added gene: EXTL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to 28132690 Phenotypes for gene: EXTL3 were set to Neuro immuno skeletal Dysplasia Syndrome Mode of pathogenicity for gene: EXTL3 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | EXOSC9 |
Rebecca Foulger gene: EXOSC9 was added gene: EXOSC9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EXOSC9 was set to Publications for gene: EXOSC9 were set to 29727687 Phenotypes for gene: EXOSC9 were set to Cerebellar Atrophy with Spinal Motor Neuronopathy |
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| DDG2P v1.37 | DHPS |
Rebecca Foulger gene: DHPS was added gene: DHPS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHPS were set to 30661771 Phenotypes for gene: DHPS were set to Neurodevelopmental Disorder of Hypusination Mode of pathogenicity for gene: DHPS was set to Other - please provide details in the comments |
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| DDG2P v1.37 | CNPY3 |
Rebecca Foulger gene: CNPY3 was added gene: CNPY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNPY3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNPY3 were set to 29394991 Phenotypes for gene: CNPY3 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY |
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| DDG2P v1.37 | CCNK |
Rebecca Foulger gene: CCNK was added gene: CCNK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CCNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCNK were set to 30122539 Phenotypes for gene: CCNK were set to Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism |
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| DDG2P v1.37 | ATP6V1E1 |
Rebecca Foulger gene: ATP6V1E1 was added gene: ATP6V1E1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1E1 were set to 28065471 Phenotypes for gene: ATP6V1E1 were set to Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa Mode of pathogenicity for gene: ATP6V1E1 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | ATP6V1A |
Rebecca Foulger gene: ATP6V1A was added gene: ATP6V1A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1A were set to 28065471 Phenotypes for gene: ATP6V1A were set to Autosomal Recessive Cutis Laxa Mode of pathogenicity for gene: ATP6V1A was set to Other - please provide details in the comments |
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| DDG2P v1.37 | ATP5D |
Rebecca Foulger gene: ATP5D was added gene: ATP5D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5D were set to 29478781 Phenotypes for gene: ATP5D were set to ATP5F1D metabolic disorder Mode of pathogenicity for gene: ATP5D was set to Other - please provide details in the comments |
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| DDG2P v1.37 | ATP1A1 |
Rebecca Foulger gene: ATP1A1 was added gene: ATP1A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP1A1 were set to 30388404 Phenotypes for gene: ATP1A1 were set to Renal Hypomagnesemia Refractory Seizures and Intellectual Disability Mode of pathogenicity for gene: ATP1A1 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | ATN1 |
Rebecca Foulger gene: ATN1 was added gene: ATN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATN1 were set to 30827498 Phenotypes for gene: ATN1 were set to congenital hypotonia, epilepsy, developmental delay, digit abnormalities Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | ARL3 |
Rebecca Foulger gene: ARL3 was added gene: ARL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 30269812 Phenotypes for gene: ARL3 were set to JOUBERT SYNDROME, 614615 Mode of pathogenicity for gene: ARL3 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | ADPRHL2 |
Rebecca Foulger gene: ADPRHL2 was added gene: ADPRHL2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30388405; 30401461 Phenotypes for gene: ADPRHL2 were set to Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy |
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| DDG2P v1.37 | ADAMTS9 |
Rebecca Foulger gene: ADAMTS9 was added gene: ADAMTS9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS9 were set to 30609407 Phenotypes for gene: ADAMTS9 were set to Nephronophthisis Related Ciliopathy Mode of pathogenicity for gene: ADAMTS9 was set to Other - please provide details in the comments |
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| DDG2P v1.34 | XYLT1 | Rebecca Foulger commented on gene: XYLT1: New gene:disorder association added to DDG2P in March 2019: Baratela Scott Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: cis-regulatory or promotor mutation. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.33 | TRAF7 | Rebecca Foulger commented on gene: TRAF7: Kept 'watchlist' tag when adding in new DD-G2P gene-disorder from March 2019; although DDG2P has multiple ratings (probable and confirmed), the three disorders are very similar (Developmental Delay Congenital Anomalies and Dysmorphic Features, Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Developmental delay, congenital malformations and dysmorphism). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.32 | TRAF7 | Rebecca Foulger commented on gene: TRAF7: New gene:disorder association added to DDG2P in March 2019: Developmental Delay Congenital Anomalies and Dysmorphic Features. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.31 | POLR3A | Rebecca Foulger Phenotypes for gene: POLR3A were changed from LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 to Autosomal Recessive Wiedemann Rautenstrauch Syndrome; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.30 | POLR3A | Rebecca Foulger commented on gene: POLR3A: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Wiedemann Rautenstrauch Syndrome. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.29 | PCGF2 | Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.27 | PACS2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect new DDG2P Disease confidence rating of probable for 'Unspecified Neurodevelopmental Disorder (the previous rating was 'possible'). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.26 | NFIB | Rebecca Foulger Phenotypes for gene: NFIB were changed from Intellectual disability with macrocephaly to Intellectual disability with macrocephaly; Intellectual Disability and Macrocephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.25 | NFIB | Rebecca Foulger commented on gene: NFIB: New gene:disorder association added to DDG2P in March 2019: Intellectual Disability and Macrocephaly. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. Note that at the time of curation, the existing disorder 'Intellectual Disability and macrocephaly' exists in DD-G2P as a separate entry. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.25 | MYH3 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the newly-added disorder (Recessive Spondylocarpotarsal Synostosis Syndrome) has a biallelic MOI, I have kept the PanelApp MOI as 'monoallelic' to reflect the confirmed disease ratings (for DISTAL ARTHROGRYPOSIS TYPE 2A 193700 and DISTAL ARTHROGRYPOSIS TYPE 2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.24 | MYH3 | Rebecca Foulger commented on gene: MYH3: Added 'watchlist' tag to reflect multiple ratings for different G2P disorders: confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A, confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B, probable for Recessive Spondylocarpotarsal Synostosis Syndrome (added to G2P in March 2019). Kept rating as Green to reflect highest Disease Confidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.24 | MYH3 | Rebecca Foulger commented on gene: MYH3: New gene:disorder association added to DDG2P in March 2019: Recessive Spondylocarpotarsal Synostosis Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.23 | MYH3 | Rebecca Foulger Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680 to DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.22 | LRRC56 | Rebecca Foulger commented on gene: LRRC56: Curated updates to DD-G2P from March 2019 for 'Mucociliary Clearance and Laterality Defects'. Allelic requirement is now biallelic. Mutation consequence is now 'loss of function'. The Disease confidence rating remains as probable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.22 | LRRC56 | Rebecca Foulger Added comment: Comment on mode of inheritance: Added biallelic MOI to reflect the updated MOI in DD-G2P for Mucociliary Clearance and Laterality Defects (previously the MOI was missing). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.20 | KCNK4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect 'probable' disease confidence for 'Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth' added to DD-G2P in March 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.19 | KCNK4 | Rebecca Foulger commented on gene: KCNK4: Added 'watchlist' tag to highlight different DDG2P Disease confidence ratings for different disorders: Probable for Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth (with all missense/in frame MOP). Possible for FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) (with activating MOP). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.19 | KCNK4 | Rebecca Foulger commented on gene: KCNK4: New gene:disorder association added to DDG2P in March 2019: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.19 | KCNK4 | Rebecca Foulger Phenotypes for gene: KCNK4 were changed from FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.18 | FBXO11 | Rebecca Foulger commented on gene: FBXO11: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P for different disorders: Rated 'possible' for FBXO11 related intellectual disability. Rated 'confirmed' for Variable Neurodevelopmental Disorder. Both disorders have monoallelic MOI and 'loss of function' MOP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.16 | FBXO11 | Rebecca Foulger commented on gene: FBXO11: New gene:disorder association added to DDG2P in March 2019: Variable Neurodevelopmental Disorder. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.14 | DSTYK | Rebecca Foulger commented on gene: DSTYK: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.14 | COG4 | Rebecca Foulger commented on gene: COG4: New gene:disorder association added to DDG2P in March 2019: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. (Note that Saul-Wilson syndrome disorder was already associated with COG4 in DD-G2P but with a 'gain of function' MOP. The new entry exists in addition). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.14 | CLCN4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect change in DD-G2P Disease confidence for INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY (was 'Possible', now 'Probable'). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.13 | CLCN4 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from monoallelic to hemizygous to match new Allelic requirement in DD-G2P for the disorder INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY. The hemizygous MOI is consistent with CLCN4 on other PanelApp panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.13 | CLCN4 | Rebecca Foulger Mode of inheritance for gene: CLCN4 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 v1.12 | CACNA1E | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on new 'confirmed' gene-disease association added to DD-G2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. At the time of curation, the existing disorder (Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia) still has the DD-G2P Disease confidence of 'possible'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.11 | CACNA1E | Rebecca Foulger commented on gene: CACNA1E: New gene:disorder association added to DDG2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: activating. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.10 | TTN | Rebecca Foulger commented on gene: TTN: PMID:29691892 identify 30 patients from 27 families with 2 pathogenic TTN variants in trans. All patients had prenatal or early onset hypotonia and/or congenital contractures. Cardiac involvement was present in 46% of patients. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.9 | TTN | Rebecca Foulger commented on gene: TTN: PMID:28040389 (Fernández-Marmiesse et al 2017) report a newborn boy, first child of non-consanguineous parents with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement. The individual had a novel homozygous truncating variant c.38661_38665del in TTN, which is expressed only in the fetal skeletal isoform. A fetal ultrasound reported Clubfoot. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.9 | TTN | Rebecca Foulger commented on gene: TTN: PMID:29575618 (Chervinsky et al 2018) evaluate a consanguineous family of Moslem Bedouin origin with lethal congenital contracture syndrome and a homozygous c.36122delC (p. P12041Lfs*20) variant in TTN. 8 affected individuals (newborns and fetuses) were studied. Six of the affecteds were diagnosed prenatally by fetal ultrasound and two were diagnosed at birth. One pregnancy was complicated with fetal hydrops, and polyhydramnios was noted in at least three affecteds. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.8 | ASCC1 | Julia Baptista reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26924529, 30327447, 28749478; Phenotypes: spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.8 | FBXW4 | Rebecca Foulger Mode of pathogenicity for gene: FBXW4 was changed from part of contiguous gene duplication to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.7 | FARS2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to 'biallelic' to match OMIM and other PanelApp panels (no MOI listed in DD-G2P at the time of curation). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.6 | FARS2 | Rebecca Foulger reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.6 | KCNJ8 | Rebecca Foulger reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.5 | KCNJ8 |
Rebecca Foulger gene: KCNJ8 was added gene: KCNJ8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207 Phenotypes for gene: KCNJ8 were set to Cantu syndrome Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments |
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| DDG2P v1.2 | STAG2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from monoallelic to X-linked to reflect change in DD-G2P, and to match other PanelApp panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.2 | STAG2 | Rebecca Foulger Mode of inheritance for gene: STAG2 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 v0.95 | BGN | Rebecca Foulger commented on gene: BGN: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | ANO5 | Rebecca Foulger commented on gene: ANO5: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | KCNE1 | Rebecca Foulger commented on gene: KCNE1: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for LONG QT SYNDROME-5, and DDG2P Disease confidence of 'both DD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | MYPN | Rebecca Foulger commented on gene: MYPN: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Childhood-Onset, Slowly Progressive Nemaline Myopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | PIH1D3 | Rebecca Foulger commented on gene: PIH1D3: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | FMR1 | Rebecca Foulger commented on gene: FMR1: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SMAD4 | Rebecca Foulger commented on gene: SMAD4: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 also rated 'confirmed' for MYHRE SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | THAP1 | Rebecca Foulger commented on gene: THAP1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DYSTONIA 6, TORSION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' forNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SNORD118 | Rebecca Foulger commented on gene: SNORD118: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Leukoencephalopathy with cerebral calcification & cysts. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SLC4A11 | Rebecca Foulger commented on gene: SLC4A11: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | PLA2G6 | Rebecca Foulger commented on gene: PLA2G6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; INFANTILE NEUROAXONAL DYSTROPHY 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | MYH8 | Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | MYH6 | Rebecca Foulger commented on gene: MYH6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | LMNA | Rebecca Foulger commented on gene: LMNA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | LDB3 | Rebecca Foulger commented on gene: LDB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C; MYOPATHY MYOFIBRILLAR TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | KARS | Rebecca Foulger commented on gene: KARS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | GJB3 | Rebecca Foulger commented on gene: GJB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | GBA | Rebecca Foulger commented on gene: GBA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | DARS2 | Rebecca Foulger commented on gene: DARS2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | AMER1 | Rebecca Foulger commented on gene: AMER1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | AIRE | Rebecca Foulger commented on gene: AIRE: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | ACTA2 | Rebecca Foulger commented on gene: ACTA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for MOYAMOYA DISEASE 5; AORTIC ANEURYSM, FAMILIAL THORACIC 6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | THAP1 |
Rebecca Foulger Source Expert Review Amber was added to THAP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.93 | UFC1 | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for UFC1 Disease: Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.92 | SAMD9 | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for DDG2P SAMD9 Disease: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy. Have set MOI to 'monoallelic' to match OMIM (MIRAGE syndrome, 617053). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.91 | RPL11 | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for RPL11 Disease: Diamond-Blackfan anemia with cleft palate and abnormal thumbs in DDG2P but have set MOI to 'Monoallelic' to match OMIM (MIM:612562) and other panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.90 | EDAR | Rebecca Foulger Added comment: Comment on mode of inheritance: At the time of curation, no MOI is listed in DD-G2P for EDAR. Note that in OMIM, Ectodermal dysplasia is associated with both recessive (MIM:224900) and dominant (MIM:129490) inheritance. However, have set MOI to 'biallelic' to match the current DD-G2P disorder name (Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.89 | TWIST2 | Rebecca Foulger Mode of inheritance for gene: TWIST2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.81 | MITF | Rebecca Foulger Mode of inheritance for gene: MITF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.77 | LRP2 | Rebecca Foulger Mode of inheritance for gene: LRP2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.61 | COG4 | Rebecca Foulger Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.59 | ATAD3A | Rebecca Foulger Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | TWIST2 | Rebecca Foulger edited their review of gene: TWIST2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ABLEPHARON MACROSTOMIA SYNDROME. MOI is monoallelic for ABLEPHARON MACROSTOMIA SYNDROME and biallelic for SETLEIS SYNDROME; changed MOI from 'both monoallelic and biallelic' to monoallelic, to match confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | TRAF7 | Rebecca Foulger edited their review of gene: TRAF7: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Developmental Delay, Congenital Anomalies, and Dysmorphic Features.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | TBCE | Rebecca Foulger edited their review of gene: TBCE: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; KENNY-CAFFEY SYNDROME TYPE 1.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | SIX1 | Rebecca Foulger edited their review of gene: SIX1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | PUF60 | Rebecca Foulger edited their review of gene: PUF60: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for PUF60 syndrome.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | MYT1L | Rebecca Foulger edited their review of gene: MYT1L: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MYT1L syndrome.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | MTOR | Rebecca Foulger edited their review of gene: MTOR: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Smith-Kingsmore syndrome.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | MITF | Rebecca Foulger edited their review of gene: MITF: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is monoallelic for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is biallelic for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; changed MOI to monoallelic to match confirmed disorders only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | MAGEL2 | Rebecca Foulger edited their review of gene: MAGEL2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Schaaf-Yang syndrome.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | MAFB | Rebecca Foulger edited their review of gene: MAFB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | LRP2 | Rebecca Foulger edited their review of gene: LRP2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for DONNAI-BARROW SYNDROME. MOI is biallelic for DONNAI-BARROW SYNDROME and monoallelic for INTELLECTUAL DISABILITY: changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match biallelic confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | ITPR1 | Rebecca Foulger edited their review of gene: ITPR1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for biallelic and monoallelic Gillespie Syndrome. MOI kept as 'both monoallelic and biallelic' .; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | IL11RA | Rebecca Foulger edited their review of gene: IL11RA: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Autosomal Recessive Craniosynostosis.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | IFIH1 | Rebecca Foulger edited their review of gene: IFIH1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AICARDI-GOUTIERES SYNDROME 7.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | GJA1 | Rebecca Foulger edited their review of gene: GJA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | FBN1 | Rebecca Foulger edited their review of gene: FBN1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | EYA1 | Rebecca Foulger edited their review of gene: EYA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BRANCHIOOTORENAL SYNDROME TYPE 1.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | ERCC4 | Rebecca Foulger edited their review of gene: ERCC4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for XERODERMA PIGMENTOSUM, GROUP F.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | ERBB3 | Rebecca Foulger commented on gene: ERBB3: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Hirschprung disease with intestinal pseudo-obstruction. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | DNMT3A | Rebecca Foulger edited their review of gene: DNMT3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | DEAF1 | Rebecca Foulger edited their review of gene: DEAF1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | CRYGD | Rebecca Foulger edited their review of gene: CRYGD: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3. ; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | CRYGC | Rebecca Foulger edited their review of gene: CRYGC: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | CRYBA4 | Rebecca Foulger edited their review of gene: CRYBA4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT ZONULAR TYPE 2.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | CRADD | Rebecca Foulger commented on gene: CRADD: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Megalencephaly with Variant Lissencephaly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | COL9A3 | Rebecca Foulger edited their review of gene: COL9A3: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | COL2A1 | Rebecca Foulger edited their review of gene: COL2A1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ACHONDROGENESIS TYPE 2; KNIEST DYSPLASIA; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT;SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | COG4 | Rebecca Foulger edited their review of gene: COG4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for COG4-CDG. MOI is biallelic for COG4-CDG and monoallelic for Saul-Wilson syndrome; changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match MOI of confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | ATAD3A | Rebecca Foulger edited their review of gene: ATAD3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for monoallelic ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Changed MOI from 'both monoallelic and biallelic' to just monoallelic, because the biallelic ATAD3A disorder has a 'probable' DDG2P disease confidence.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | ACTB | Rebecca Foulger edited their review of gene: ACTB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BARAITSER-WINTER SYNDROME.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.53 | PHACTR1 | Rebecca Foulger reviewed gene: PHACTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.52 | PHACTR1 |
Rebecca Foulger gene: PHACTR1 was added gene: PHACTR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHACTR1 were set to 23033978; 30256902 Phenotypes for gene: PHACTR1 were set to PHACTR1-associated neurodevelopment disorder Mode of pathogenicity for gene: PHACTR1 was set to Other - please provide details in the comments |
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| DDG2P v0.51 | CAD | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is present in DDG2P at the time of curation. Have updated the MOI to 'biallelic' to match OMIM and other PanelApp panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.50 | HECW2 | Rebecca Foulger commented on gene: HECW2: Curated DDG2P update on Jan 21st 2019: Changed phenotype from 'HECW2' to 'Neurodevelopmental disorder with hypotonia, seizures, and absent language'. Rating remains as: confirmed. MOI remains as: monoallelic. MOP remains as: all missense/in frame. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.50 | HECW2 | Rebecca Foulger Phenotypes for gene: HECW2 were changed from HECW2 to Neurodevelopmental disorder with hypotonia, seizures, and absent language | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.49 | DNMT3A | Rebecca Foulger Phenotypes for gene: DNMT3A were changed from Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879; Microcephalic primordial dwarfism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.47 | CDKN1C | Rebecca Foulger commented on gene: CDKN1C: DDG2P update (curated 15th January 2019): MOI currently listed as 'imprinted' for both 'BECKWITH-WIEDEMANN SYNDROME' and IMAGe Syndrome. MOP curerntly listed as 'loss of function' for 'BECKWITH-WIEDEMANN SYNDROME' and 'gain of function' for 'IMAGe Syndrome'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.47 | KCNA2 | Rebecca Foulger commented on gene: KCNA2: DDG2P updated 09/01/2019. Ratings remain as 'confirmed' for both the activating (gain of function) and the loss of function EPILEPTIC ENCEPHALOPATHY phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.47 | KCNA2 | Rebecca Foulger Added comment: Comment on phenotypes: Phenotypes updated based on DDG2P update from 09/01/2019: 'EPILEPTIC ENCEPHALOPATHY' phenotype replaced. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.47 | KCNA2 | Rebecca Foulger Phenotypes for gene: KCNA2 were changed from EPILEPTIC ENCEPHALOPATHY. to EPILEPTIC ENCEPHALOPATHY Loss-of-function; EPILEPTIC ENCEPHALOPATHY Gain-of-function | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.46 | PRRX1 | Rebecca Foulger commented on gene: PRRX1: DDG2P updated 09/01/2019. Rating renains as 'possible' for both the monoallelic and biallelic disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.46 | PRRX1 | Rebecca Foulger Added comment: Comment on phenotypes: Phenotypes updated based on DDG2P update 09/01/2019: 'AGNATHIA-OTOCEPHALY COMPLEX 202650' phenotype replaced. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.46 | PRRX1 | Rebecca Foulger Phenotypes for gene: PRRX1 were changed from AGNATHIA-OTOCEPHALY COMPLEX 202650 to AGNATHIA-OTOCEPHALY COMPLEX biallelic; AGNATHIA-OTOCEPHALY COMPLEX monoallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.45 | RPS6KA3 | Rebecca Foulger commented on gene: RPS6KA3: DDG2P updated 09/01/2019. Ratings remain as 'Confirmed' for both the XLD and XLR forms of Coffin-Lowry Syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.44 | HDAC8 | Rebecca Foulger commented on gene: HDAC8: DDG2P updated 09/01/2019. Ratings confirmed for both 'CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR' and 'Cornelia de Lange Syndrome HDAC8 X-linked dominant'. MOP listed as 'loss of function' for both phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.43 | H3F3A | Rebecca Foulger Added comment: Comment on list classification: Removed H3F3A from the DDG2P panel, as it is no longer listed in the DD-G2P download (January 7th 2018) and now has no disorder associated with it in Gene2Phenotype. It was originally added to the panel because it appeared in the DD-G2P download on November 6th 2018 associated with Craniofacial with neurodevelopment disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.43 | H3F3A | Rebecca Foulger Gene: h3f3a has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.42 | NAXD | Rebecca Foulger reviewed gene: NAXD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.26 | TRIO | Rebecca Foulger Added comment: Comment on mode of pathogenicity: DD-G2P update, curated Jan 8th 2019: mechanism changed from 'all missense/in frame' to 'uncertain'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.26 | TRIO | Rebecca Foulger Mode of pathogenicity for gene: TRIO was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.24 | FLNA | Rebecca Foulger commented on gene: FLNA: DDG2P update, curated January 8th 2019: MOP for RONTOMETAPHYSEAL DYSPLASIA changed from 'uncertain' to 'gain of function'.No MOP change curated in PanelApp, because mechanism is listed as loss of function for some (but not all) DD-G2P disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.24 | NFIA | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect DD-G2P update. Previously rated Amber based on a 'possible' DD-G2P rating for CHROMOSOME 1P32-P31 DELETION SYNDROME. Now (January 8th 2019) rated Probable for 'Macrocephaly with intellectual disability'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.23 | NFIA | Rebecca Foulger Phenotypes for gene: NFIA were changed from CHROMOSOME 1P32-P31 DELETION SYNDROME 613735 to Macrocephaly with intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.18 | SAMD9 |
Rebecca Foulger gene: SAMD9 was added gene: SAMD9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SAMD9 was set to Publications for gene: SAMD9 were set to 28346228; 27182967 Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy |
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| DDG2P v0.18 | CACNA1E |
Rebecca Foulger gene: CACNA1E was added gene: CACNA1E was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1E were set to 30343943 Phenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments |
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| DDG2P v0.16 | KLHL7 | Rebecca Foulger Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.14 | DNMT3A | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber while panel is V0 and unreviewed, based on DDG2P rating for newly added disorder: Rated confirmed by DDG2P for Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), formerly called OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879. Rated probable by DDG2P for Microcephalic primordial dwarfism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.13 | DNMT3A | Rebecca Foulger Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.11 | COG4 | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'biallelic to both monoallelic and biallelic': Multiple MOIs in DD-G2P download: monoallelic for Saul-Wilson syndrome, and biallelic for COG4-CDG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.11 | COG4 | Rebecca Foulger Mode of inheritance for gene: COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | SLC25A4 | Rebecca Foulger edited their review of gene: SLC25A4: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Fontaine progeroid syndrome. Rated probable in DDG2P for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome. DG2P mode of pathogenicity for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome: all missense/in frame.; Changed publications: 30329211; Changed phenotypes: Fontaine progeroid syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | LZTR1 | Rebecca Foulger reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | RAC3 | Rebecca Foulger reviewed gene: RAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | NFIB | Rebecca Foulger reviewed gene: NFIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | KCNK4 | Rebecca Foulger reviewed gene: KCNK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | KLHL7 | Rebecca Foulger edited their review of gene: KLHL7: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. Rated probable in DDG2P for both Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa, and Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOI listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOP listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa.; Changed phenotypes: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | COG4 | Rebecca Foulger edited their review of gene: COG4: Added comment: New gene:disorder association added to DDG2P on 07/11/2018: Saul-Wilson syndrome. Multiple DDG2P ratings: Rated confirmed for COG4-CDG 319493 and Rated probable for Saul-Wilson syndrome: Multiple MOPs in DDG2P: gain of function for Saul-Wilson syndrome, and loss of function for COG4-CDG 319493. Multiple MOIs in DD-G2P download: monoallelic for Saul-Wilson syndrome, and biallelic for COG4-CDG.; Changed phenotypes: Saul-Wilson syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | SLC10A7 | Rebecca Foulger reviewed gene: SLC10A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | DNMT3A | Rebecca Foulger edited their review of gene: DNMT3A: Added comment: New gene:disorder association added to DDG2P on 06/11/2018: Microcephalic primordial dwarfism. Multiple DDG2P ratings: Rated confirmed for OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 and rated probable for Microcephalic primordial dwarfism. Multiple MOPs in DDG2P: gain of function for Microcephalic primordial dwarfism, and loss of function for OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879.; Changed phenotypes: Microcephalic primordial dwarfism; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.8 | LZTR1 |
Rebecca Foulger gene: LZTR1 was added gene: LZTR1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to 30368668; 29959388 Phenotypes for gene: LZTR1 were set to Noonan syndrome Mode of pathogenicity for gene: LZTR1 was set to Other - please provide details in the comments |
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| DDG2P v0.8 | RAC3 |
Rebecca Foulger gene: RAC3 was added gene: RAC3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAC3 were set to 30293988 Phenotypes for gene: RAC3 were set to Neurodevelopment disorder Mode of pathogenicity for gene: RAC3 was set to Other - please provide details in the comments |
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| DDG2P v0.8 | NFIB |
Rebecca Foulger gene: NFIB was added gene: NFIB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NFIB were set to 30388402 Phenotypes for gene: NFIB were set to Intellectual disability with macrocephaly |
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| DDG2P v0.8 | KCNK4 |
Rebecca Foulger gene: KCNK4 was added gene: KCNK4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNK4 were set to 30290154 Phenotypes for gene: KCNK4 were set to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) Mode of pathogenicity for gene: KCNK4 was set to Other - please provide details in the comments |
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| DDG2P v0.8 | SLC10A7 |
Rebecca Foulger gene: SLC10A7 was added gene: SLC10A7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 29878199; 30082715 Phenotypes for gene: SLC10A7 were set to Chondrodysplasia with multiple dislocations and amelogenesis imperfecta |
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| DDG2P v0.7 | DYNC2H1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Rating should have been Green in original file upload because DDG2P rating is confirmed for both disorders: ASPHYXIATING THORACIC DYSTROPHY TYPE 3, and SHORT RIB-POLYDACTYLY SYNDROME TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.6 | NPHP3 | Rebecca Foulger Added comment: Comment on list classification: Updated rating to Green: Rating should have been Green in original fileupload since Original DDG2P rating is confirmed for all 3 DDG2P disorders; MECKEL SYNDROME TYPE 7 267010, RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540 and NEPHRONOPHTHISIS TYPE 3 604387. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | SMAD4 | Rebecca Foulger Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | ATAD3A | Rebecca Foulger commented on gene: ATAD3A: Added watchlist tag to highlight different DD-G2P ratings for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | ANO5 | Rebecca Foulger commented on gene: ANO5: Added watchlist tag to highlight different DD-G2P ratings for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | ACTB | Rebecca Foulger commented on gene: ACTB: Added watchlist tag to highlight different DD-G2P ratings for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | TRAPPC12 | Rebecca Foulger commented on gene: TRAPPC12: polygenic tag added: In DD-G2P download, digenic MOI listed for Progressive Childhood Encephalopathy and Golgi Dysfunction. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | MTMR14 | Rebecca Foulger commented on gene: MTMR14: polygenic tag added: In DD-G2P download, digenic MOI listed for CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | NEK1 | Rebecca Foulger commented on gene: NEK1: monogenic-polygenic tag added: In DD-G2P download, both biallelic and digenic MOIs listed for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | PIK3CA | Rebecca Foulger commented on gene: PIK3CA: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918, HEMIMEGALENCEPHALY PIK3CA and MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | GNAS | Rebecca Foulger commented on gene: GNAS: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZSWIM6 | Rebecca Foulger reviewed gene: ZSWIM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZNF750 | Rebecca Foulger reviewed gene: ZNF750: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZNF713 | Rebecca Foulger reviewed gene: ZNF713: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZNF711 | Rebecca Foulger reviewed gene: ZNF711: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZNF599 | Rebecca Foulger reviewed gene: ZNF599: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZNF526 | Rebecca Foulger reviewed gene: ZNF526: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZNF462 | Rebecca Foulger reviewed gene: ZNF462: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZMYND11 | Rebecca Foulger reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZMYND10 | Rebecca Foulger reviewed gene: ZMYND10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZMYM6 | Rebecca Foulger reviewed gene: ZMYM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZMPSTE24 | Rebecca Foulger reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZIC3 | Rebecca Foulger reviewed gene: ZIC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZIC2 | Rebecca Foulger reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZIC1 | Rebecca Foulger reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZFYVE26 | Rebecca Foulger reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZFPM2 | Rebecca Foulger reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZFP57 | Rebecca Foulger reviewed gene: ZFP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZEB2 | Rebecca Foulger reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZEB1 | Rebecca Foulger reviewed gene: ZEB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZDHHC9 | Rebecca Foulger reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZDHHC15 | Rebecca Foulger reviewed gene: ZDHHC15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZCCHC8 | Rebecca Foulger reviewed gene: ZCCHC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZC4H2 | Rebecca Foulger reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZBTB40 | Rebecca Foulger reviewed gene: ZBTB40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZBTB20 | Rebecca Foulger reviewed gene: ZBTB20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZBTB18 | Rebecca Foulger reviewed gene: ZBTB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ZBTB16 | Rebecca Foulger reviewed gene: ZBTB16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | YY1 | Rebecca Foulger reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | YWHAG | Rebecca Foulger reviewed gene: YWHAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | YAP1 | Rebecca Foulger reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | XYLT2 | Rebecca Foulger reviewed gene: XYLT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | XYLT1 | Rebecca Foulger reviewed gene: XYLT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | XRCC4 | Rebecca Foulger reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | XPNPEP3 | Rebecca Foulger reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | XPC | Rebecca Foulger reviewed gene: XPC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | XPA | Rebecca Foulger reviewed gene: XPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WWOX | Rebecca Foulger reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WT1 | Rebecca Foulger reviewed gene: WT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WRAP53 | Rebecca Foulger reviewed gene: WRAP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WNT7A | Rebecca Foulger reviewed gene: WNT7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WNT5A | Rebecca Foulger reviewed gene: WNT5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WNT4 | Rebecca Foulger reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WNT3 | Rebecca Foulger reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WNT10B | Rebecca Foulger reviewed gene: WNT10B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WNT1 | Rebecca Foulger reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR81 | Rebecca Foulger reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR73 | Rebecca Foulger reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR62 | Rebecca Foulger reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR60 | Rebecca Foulger reviewed gene: WDR60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR45B | Rebecca Foulger reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR45 | Rebecca Foulger reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR35 | Rebecca Foulger reviewed gene: WDR35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR34 | Rebecca Foulger reviewed gene: WDR34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR26 | Rebecca Foulger reviewed gene: WDR26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR19 | Rebecca Foulger reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDR11 | Rebecca Foulger reviewed gene: WDR11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WDPCP | Rebecca Foulger reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WAC | Rebecca Foulger reviewed gene: WAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VSX2 | Rebecca Foulger reviewed gene: VSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VRK1 | Rebecca Foulger reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VPS33B | Rebecca Foulger reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VPS13B | Rebecca Foulger reviewed gene: VPS13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VLDLR | Rebecca Foulger reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VIPAS39 | Rebecca Foulger reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VIP | Rebecca Foulger reviewed gene: VIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VDR | Rebecca Foulger reviewed gene: VDR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VANGL1 | Rebecca Foulger reviewed gene: VANGL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VAC14 | Rebecca Foulger reviewed gene: VAC14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UVSSA | Rebecca Foulger reviewed gene: UVSSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UTP4 | Rebecca Foulger reviewed gene: UTP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | USP9X | Rebecca Foulger reviewed gene: USP9X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | USP7 | Rebecca Foulger reviewed gene: USP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | USP27X | Rebecca Foulger reviewed gene: USP27X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | USP18 | Rebecca Foulger reviewed gene: USP18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | USB1 | Rebecca Foulger reviewed gene: USB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UROS | Rebecca Foulger reviewed gene: UROS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UROC1 | Rebecca Foulger reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UQCRQ | Rebecca Foulger reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UQCRB | Rebecca Foulger reviewed gene: UQCRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UPF3B | Rebecca Foulger reviewed gene: UPF3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UNC80 | Rebecca Foulger reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UMPS | Rebecca Foulger reviewed gene: UMPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UGT1A1 | Rebecca Foulger reviewed gene: UGT1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UFM1 | Rebecca Foulger reviewed gene: UFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UFC1 | Rebecca Foulger reviewed gene: UFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UBTF | Rebecca Foulger reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UBR7 | Rebecca Foulger reviewed gene: UBR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UBR1 | Rebecca Foulger reviewed gene: UBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UBE3B | Rebecca Foulger reviewed gene: UBE3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UBE3A | Rebecca Foulger reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UBE2T | Rebecca Foulger reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UBE2A | Rebecca Foulger reviewed gene: UBE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UBA5 | Rebecca Foulger reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TYRP1 | Rebecca Foulger reviewed gene: TYRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TYR | Rebecca Foulger reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TXNL4A | Rebecca Foulger reviewed gene: TXNL4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TWIST2 | Rebecca Foulger reviewed gene: TWIST2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TWIST1 | Rebecca Foulger reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUSC3 | Rebecca Foulger reviewed gene: TUSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUFM | Rebecca Foulger reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBGCP6 | Rebecca Foulger reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBGCP4 | Rebecca Foulger reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBG1 | Rebecca Foulger reviewed gene: TUBG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBB4A | Rebecca Foulger reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBB3 | Rebecca Foulger reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBB2B | Rebecca Foulger reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBB2A | Rebecca Foulger reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBB | Rebecca Foulger reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBA8 | Rebecca Foulger reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TUBA1A | Rebecca Foulger reviewed gene: TUBA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TTN | Rebecca Foulger reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TTI2 | Rebecca Foulger reviewed gene: TTI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TTC8 | Rebecca Foulger reviewed gene: TTC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TTC7A | Rebecca Foulger reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TTC37 | Rebecca Foulger reviewed gene: TTC37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TTC25 | Rebecca Foulger reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TTC19 | Rebecca Foulger reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSPAN7 | Rebecca Foulger reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSHZ1 | Rebecca Foulger reviewed gene: TSHZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSHR | Rebecca Foulger reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSHB | Rebecca Foulger reviewed gene: TSHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSEN54 | Rebecca Foulger reviewed gene: TSEN54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSEN34 | Rebecca Foulger reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSEN2 | Rebecca Foulger reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSEN15 | Rebecca Foulger reviewed gene: TSEN15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSC2 | Rebecca Foulger reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TSC1 | Rebecca Foulger reviewed gene: TSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRPV4 | Rebecca Foulger reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRPV3 | Rebecca Foulger reviewed gene: TRPV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRPS1 | Rebecca Foulger reviewed gene: TRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRPM1 | Rebecca Foulger reviewed gene: TRPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRMT10C | Rebecca Foulger reviewed gene: TRMT10C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRMT1 | Rebecca Foulger reviewed gene: TRMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRIT1 | Rebecca Foulger reviewed gene: TRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRIP4 | Rebecca Foulger reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRIP13 | Rebecca Foulger reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRIP12 | Rebecca Foulger reviewed gene: TRIP12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRIP11 | Rebecca Foulger reviewed gene: TRIP11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRIO | Rebecca Foulger reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRIM37 | Rebecca Foulger reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRIM32 | Rebecca Foulger reviewed gene: TRIM32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TREX1 | Rebecca Foulger reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRAPPC9 | Rebecca Foulger reviewed gene: TRAPPC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRAPPC2 | Rebecca Foulger reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRAPPC12 | Rebecca Foulger reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRAPPC11 | Rebecca Foulger reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRAIP | Rebecca Foulger reviewed gene: TRAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TRAF7 | Rebecca Foulger reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TPP1 | Rebecca Foulger reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TPM2 | Rebecca Foulger reviewed gene: TPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TP63 | Rebecca Foulger reviewed gene: TP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TOE1 | Rebecca Foulger reviewed gene: TOE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TNFRSF13B | Rebecca Foulger reviewed gene: TNFRSF13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMTC3 | Rebecca Foulger reviewed gene: TMTC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMPRSS6 | Rebecca Foulger reviewed gene: TMPRSS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM70 | Rebecca Foulger reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM67 | Rebecca Foulger reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM5 | Rebecca Foulger reviewed gene: TMEM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM260 | Rebecca Foulger reviewed gene: TMEM260: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM237 | Rebecca Foulger reviewed gene: TMEM237: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM216 | Rebecca Foulger reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM199 | Rebecca Foulger reviewed gene: TMEM199: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM165 | Rebecca Foulger reviewed gene: TMEM165: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM135 | Rebecca Foulger reviewed gene: TMEM135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM126B | Rebecca Foulger reviewed gene: TMEM126B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMEM114 | Rebecca Foulger reviewed gene: TMEM114: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TMCO1 | Rebecca Foulger reviewed gene: TMCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TM4SF20 | Rebecca Foulger reviewed gene: TM4SF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TLL1 | Rebecca Foulger reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TLK2 | Rebecca Foulger reviewed gene: TLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TKT | Rebecca Foulger reviewed gene: TKT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TK2 | Rebecca Foulger reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TINF2 | Rebecca Foulger reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TIMM8A | Rebecca Foulger reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | THRA | Rebecca Foulger reviewed gene: THRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | THOC6 | Rebecca Foulger reviewed gene: THOC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | THOC2 | Rebecca Foulger reviewed gene: THOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | THAP1 | Rebecca Foulger reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TH | Rebecca Foulger reviewed gene: TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TGIF1 | Rebecca Foulger reviewed gene: TGIF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TGFBR2 | Rebecca Foulger reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TGFBR1 | Rebecca Foulger reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TGFB3 | Rebecca Foulger reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TGFB2 | Rebecca Foulger reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TGFB1 | Rebecca Foulger reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TGDS | Rebecca Foulger reviewed gene: TGDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TFRC | Rebecca Foulger reviewed gene: TFRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TFAP2B | Rebecca Foulger reviewed gene: TFAP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TFAP2A | Rebecca Foulger reviewed gene: TFAP2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TERT | Rebecca Foulger reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TERC | Rebecca Foulger reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TELO2 | Rebecca Foulger reviewed gene: TELO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TEK | Rebecca Foulger reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TECPR2 | Rebecca Foulger reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TDRD7 | Rebecca Foulger reviewed gene: TDRD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TCTN3 | Rebecca Foulger reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TCTN2 | Rebecca Foulger reviewed gene: TCTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TCTN1 | Rebecca Foulger reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TCOF1 | Rebecca Foulger reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TCN2 | Rebecca Foulger reviewed gene: TCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TCF4 | Rebecca Foulger reviewed gene: TCF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TCF20 | Rebecca Foulger reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TCF12 | Rebecca Foulger reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBXAS1 | Rebecca Foulger reviewed gene: TBXAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX5 | Rebecca Foulger reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX4 | Rebecca Foulger reviewed gene: TBX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX3 | Rebecca Foulger reviewed gene: TBX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX22 | Rebecca Foulger reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX20 | Rebecca Foulger reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX18 | Rebecca Foulger reviewed gene: TBX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX15 | Rebecca Foulger reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBX1 | Rebecca Foulger reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBR1 | Rebecca Foulger reviewed gene: TBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBL1XR1 | Rebecca Foulger reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBCK | Rebecca Foulger reviewed gene: TBCK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBCE | Rebecca Foulger reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBCD | Rebecca Foulger reviewed gene: TBCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBC1D24 | Rebecca Foulger reviewed gene: TBC1D24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBC1D23 | Rebecca Foulger reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TBC1D20 | Rebecca Foulger reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TAZ | Rebecca Foulger reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TAT | Rebecca Foulger reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TAPT1 | Rebecca Foulger reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TANGO2 | Rebecca Foulger reviewed gene: TANGO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TAF2 | Rebecca Foulger reviewed gene: TAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TAF13 | Rebecca Foulger reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TAF1 | Rebecca Foulger reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TACR3 | Rebecca Foulger reviewed gene: TACR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TACO1 | Rebecca Foulger reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TAC3 | Rebecca Foulger reviewed gene: TAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TAB2 | Rebecca Foulger reviewed gene: TAB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SZT2 | Rebecca Foulger reviewed gene: SZT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SYT1 | Rebecca Foulger reviewed gene: SYT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SYP | Rebecca Foulger reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SYNGAP1 | Rebecca Foulger reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SYNE1 | Rebecca Foulger reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SYN1 | Rebecca Foulger reviewed gene: SYN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SURF1 | Rebecca Foulger reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SUMO1 | Rebecca Foulger reviewed gene: SUMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SUMF1 | Rebecca Foulger reviewed gene: SUMF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SUFU | Rebecca Foulger reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SUCLG1 | Rebecca Foulger reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STXBP1 | Rebecca Foulger reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STX1B | Rebecca Foulger reviewed gene: STX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STT3B | Rebecca Foulger reviewed gene: STT3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STT3A | Rebecca Foulger reviewed gene: STT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STS | Rebecca Foulger reviewed gene: STS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STRA6 | Rebecca Foulger reviewed gene: STRA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STN1 | Rebecca Foulger reviewed gene: STN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STIM1 | Rebecca Foulger reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STIL | Rebecca Foulger reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STAT5B | Rebecca Foulger reviewed gene: STAT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STAT2 | Rebecca Foulger reviewed gene: STAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STAR | Rebecca Foulger reviewed gene: STAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STAMBP | Rebecca Foulger reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STAG2 | Rebecca Foulger reviewed gene: STAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STAG1 | Rebecca Foulger reviewed gene: STAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ST3GAL5 | Rebecca Foulger reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ST3GAL3 | Rebecca Foulger reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ST14 | Rebecca Foulger reviewed gene: ST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SRY | Rebecca Foulger reviewed gene: SRY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SRPX2 | Rebecca Foulger reviewed gene: SRPX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SRP54 | Rebecca Foulger reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SRGAP3 | Rebecca Foulger reviewed gene: SRGAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SRD5A3 | Rebecca Foulger reviewed gene: SRD5A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SRCAP | Rebecca Foulger reviewed gene: SRCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPTLC2 | Rebecca Foulger reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPTAN1 | Rebecca Foulger reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPRTN | Rebecca Foulger reviewed gene: SPRTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPRED1 | Rebecca Foulger reviewed gene: SPRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPR | Rebecca Foulger reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPG11 | Rebecca Foulger reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPEG | Rebecca Foulger reviewed gene: SPEG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPECC1L | Rebecca Foulger reviewed gene: SPECC1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPATA5 | Rebecca Foulger reviewed gene: SPATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPARC | Rebecca Foulger reviewed gene: SPARC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPAG1 | Rebecca Foulger reviewed gene: SPAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOX9 | Rebecca Foulger reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOX5 | Rebecca Foulger reviewed gene: SOX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOX3 | Rebecca Foulger reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOX2 | Rebecca Foulger reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOX17 | Rebecca Foulger reviewed gene: SOX17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOX11 | Rebecca Foulger reviewed gene: SOX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOX10 | Rebecca Foulger reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOS1 | Rebecca Foulger reviewed gene: SOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SON | Rebecca Foulger reviewed gene: SON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOBP | Rebecca Foulger reviewed gene: SOBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SNX3 | Rebecca Foulger reviewed gene: SNX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SNX14 | Rebecca Foulger reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SNRPE | Rebecca Foulger reviewed gene: SNRPE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SNRPB | Rebecca Foulger reviewed gene: SNRPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SNORD118 | Rebecca Foulger reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SNIP1 | Rebecca Foulger reviewed gene: SNIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SNAP29 | Rebecca Foulger reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SNAP25 | Rebecca Foulger reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMS | Rebecca Foulger reviewed gene: SMS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMPD1 | Rebecca Foulger reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMOC2 | Rebecca Foulger reviewed gene: SMOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMOC1 | Rebecca Foulger reviewed gene: SMOC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMO | Rebecca Foulger reviewed gene: SMO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMG9 | Rebecca Foulger reviewed gene: SMG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMCHD1 | Rebecca Foulger reviewed gene: SMCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMC3 | Rebecca Foulger reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMC1A | Rebecca Foulger reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCE1 | Rebecca Foulger reviewed gene: SMARCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCB1 | Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCAL1 | Rebecca Foulger reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCA4 | Rebecca Foulger reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCA2 | Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMAD6 | Rebecca Foulger reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMAD4 | Rebecca Foulger reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMAD3 | Rebecca Foulger reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMAD2 | Rebecca Foulger reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLX4 | Rebecca Foulger reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC9A9 | Rebecca Foulger reviewed gene: SLC9A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC9A6 | Rebecca Foulger reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC6A9 | Rebecca Foulger reviewed gene: SLC6A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC6A8 | Rebecca Foulger reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC6A5 | Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC6A3 | Rebecca Foulger reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC6A17 | Rebecca Foulger reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC6A1 | Rebecca Foulger reviewed gene: SLC6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC5A7 | Rebecca Foulger reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC5A5 | Rebecca Foulger reviewed gene: SLC5A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC52A3 | Rebecca Foulger reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC52A2 | Rebecca Foulger reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC4A4 | Rebecca Foulger reviewed gene: SLC4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC4A11 | Rebecca Foulger reviewed gene: SLC4A11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC4A1 | Rebecca Foulger reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC46A1 | Rebecca Foulger reviewed gene: SLC46A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC45A1 | Rebecca Foulger reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC39A8 | Rebecca Foulger reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC39A13 | Rebecca Foulger reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC35D1 | Rebecca Foulger reviewed gene: SLC35D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC35C1 | Rebecca Foulger reviewed gene: SLC35C1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC35A2 | Rebecca Foulger reviewed gene: SLC35A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC35A1 | Rebecca Foulger reviewed gene: SLC35A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC33A1 | Rebecca Foulger reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC31A1 | Rebecca Foulger reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC2A2 | Rebecca Foulger reviewed gene: SLC2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC2A10 | Rebecca Foulger reviewed gene: SLC2A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC2A1 | Rebecca Foulger reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC27A4 | Rebecca Foulger reviewed gene: SLC27A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC26A2 | Rebecca Foulger reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A4 | Rebecca Foulger reviewed gene: SLC25A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A38 | Rebecca Foulger reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A26 | Rebecca Foulger reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A24 | Rebecca Foulger reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A22 | Rebecca Foulger reviewed gene: SLC25A22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A20 | Rebecca Foulger reviewed gene: SLC25A20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A19 | Rebecca Foulger reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC25A15 | Rebecca Foulger reviewed gene: SLC25A15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC24A4 | Rebecca Foulger reviewed gene: SLC24A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC24A1 | Rebecca Foulger reviewed gene: SLC24A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC22A5 | Rebecca Foulger reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC1A2 | Rebecca Foulger reviewed gene: SLC1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC19A3 | Rebecca Foulger reviewed gene: SLC19A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC17A5 | Rebecca Foulger reviewed gene: SLC17A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC16A2 | Rebecca Foulger reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC13A5 | Rebecca Foulger reviewed gene: SLC13A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC12A6 | Rebecca Foulger reviewed gene: SLC12A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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