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DDG2P v6.17 ZNF407 Achchuthan Shanmugasundram edited their review of gene: ZNF407: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZNF407-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMIDs: 24907849, 32737394). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03027.; Changed publications to: 24907849, 32737394; Changed phenotypes to: ZNF407-related Neurodevelopmental Disorder, OMIM:619557.0, MONDO:0859198, ZNF407-related neurodevelopmental disorder
DDG2P v6.17 ZFHX3 Achchuthan Shanmugasundram edited their review of gene: ZFHX3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZFHX3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 30809043, 38412861). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02901.; Changed publications to: 30809043, 32502225, 38412861; Changed phenotypes to: ZFHX3-related neurodevelopmental disorder, OMIM:104155, ZFHX3-related developmental disorder (monoallelic), ZFHX3-related neurodevelopmental disorder
DDG2P v6.17 ZBTB11 Achchuthan Shanmugasundram edited their review of gene: ZBTB11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder are strong, biallelic_autosomal and loss of function (PMIDs: 29893856, 31130284, 35104841, 36068688, 38899514). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03546.; Changed publications to: 36068688, 38899514, 31130284, 35104841, 29893856; Changed phenotypes to: ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder, MONDO:0032715, OMIM:618383.0
DDG2P v6.17 YY1 Achchuthan Shanmugasundram edited their review of gene: YY1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for YY1-related intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 21076407, 28575647). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00744.; Changed publications to: 21076407, 28575647; Changed phenotypes to: MONDO:0044738, INTELLECTUAL DISABILITY, OMIM:616579, OMIM:617557.0, YY1-related intellectual disability
DDG2P v6.17 WRAP53 Achchuthan Shanmugasundram edited their review of gene: WRAP53: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WRAP53-related dyskeratosis congenita are strong, biallelic_autosomal and loss of function (PMIDs: 21205863, 29514627, 32303682, 34599657). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00718.; Changed publications to: 34599657, 32303682, 29514627, 21205863; Changed phenotypes to: OMIM:613988.0, WRAP53-related dyskeratosis congenita, MONDO:0013520, WRAP53-related dyskeratosis congenita, OMIM:613988
DDG2P v6.17 WNT7A Achchuthan Shanmugasundram edited their review of gene: WNT7A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT7A- related skeletal malformations syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 16826533, 20949531, 21271649, 21344627, 9128926). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00391.; Changed publications to: 21344627, 20949531, 9128926, 16826533, 21271649; Changed phenotypes to: OMIM:228930.0, WNT7A- related skeletal malformations syndrome, WNT7A- associated skeletal malformations syndrome, OMIM:228930
DDG2P v6.17 WNT5A Achchuthan Shanmugasundram edited their review of gene: WNT5A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT5A-related Robinow syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 19918918, 5771504). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01061.; Changed phenotypes to: OMIM:180700.0, WNT5A-related Robinow syndrome, WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT, OMIM:180700, MONDO:0024455
DDG2P v6.17 WDR45B Achchuthan Shanmugasundram edited their review of gene: WDR45B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR45B-related intellectual developmental disorder are moderate, biallelic_autosomal and undetermined (PMIDs: 21937992, 28503735, 35322404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00898.; Changed phenotypes to: WDR45B-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 WDR37 Achchuthan Shanmugasundram edited their review of gene: WDR37: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR37-related syndromic intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 31327508, 31327510). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02760.; Changed publications to: 31327510, 31327508; Changed phenotypes to: MONDO:0032850, OMIM:618652.0, WDR37-related syndromic intellectual disability, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100
DDG2P v6.17 VPS4A Achchuthan Shanmugasundram edited their review of gene: VPS4A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VPS4A-related CIMDAG Syndrome (monoallelic) are definitive, monoallelic_autosomal and dominant negative (PMIDs: 33186543, 33186545). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03076. The DDG2P confidence category, allelic requirement and molecular mechanism for VPS4A-related CIMDAG Syndrome (biallelic) are limited, biallelic_autosomal and undetermined (PMID:33186543). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03077.; Changed phenotypes to: MONDO:0035819, CIMDAG Syndrome, biallelic, OMIM:619273.0, VPS4A-related CIMDAG Syndrome (monoallelic), CIMDAG Syndrome, monoallelic, VPS4A-related CIMDAG Syndrome (biallelic)
DDG2P v6.17 USP14 Achchuthan Shanmugasundram edited their review of gene: USP14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for USP14-related syndromic neurodevelopmental disorder with arthrogryposis are moderate, biallelic_autosomal and undetermined (PMIDs: 35066879, 38469793). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03307.; Changed publications to: 35066879, 38469793; Changed phenotypes to: USP14-related syndromic neurodevelopmental disorder with arthrogryposis, MONDO:0100038
DDG2P v6.17 UROC1 Achchuthan Shanmugasundram edited their review of gene: UROC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UROC1-related urocanase deficiency are disputed, biallelic_autosomal and undetermined (PMIDs: 19304569, 27391121, 30619714, 32439973). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01370.; Changed rating: RED; Changed publications to: 27391121, 19304569, 32439973, 30619714; Changed phenotypes to: MONDO:0010167, UROCANASE DEFICIENCY, OMIM:276880, UROC1-related urocanase deficiency, OMIM:276880.0
DDG2P v6.17 UBR7 Achchuthan Shanmugasundram edited their review of gene: UBR7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UBR7-related intellectual developmental disorder are strong, biallelic_autosomal and loss of function (PMIDs: 21937992, 33340455, 36757286). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01524.; Changed publications to: 33340455, 36757286, 21937992; Changed phenotypes to: UBR7-related intellectual developmental disorder, MONDO:0030963, OMIM:619189.0, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for U2AF2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 33057194, 33644862, 34112922, 36747105, 37962958). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02884.; Changed publications to: 34112922, 33057194, 37962958, 36747105, 33644862; Changed phenotypes to: U2AF2-related developmental disorder (monoallelic), OMIM:620535.0, MONDO:0957810, U2AF2-related neurodevelopmental disorder
DDG2P v6.17 TUBB3 Achchuthan Shanmugasundram edited their review of gene: TUBB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB3-related cortical dysplasia, complex, with other brain malformations are strong, monoallelic_autosomal and undetermined (PMIDs: 20074521, 20829227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00755.; Changed publications to: 20829227, 20074521; Changed phenotypes to: MONDO:0013541, TUBB3-related cortical dysplasia, complex, with other brain malformations, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, OMIM:614039.0
DDG2P v6.17 TUBB Achchuthan Shanmugasundram edited their review of gene: TUBB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB-related developmental disorder with cleft palate, cranial malformations and circumferential skin creases (Kunze type) are strong, monoallelic_autosomal and undetermined (PMIDs: 23246003, 23324645, 26637975, 34211110). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01654.; Changed publications to: 34211110, 23324645, 23246003, 26637975; Changed phenotypes to: MONDO:0020738, Circumferential Skin Creases Kunze Type, OMIM:156610, OMIM:156610.0, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, OMIM:615771, TUBB-related developmental disorder with cleft palate, cranial malformations and circumferential skin creases (Kunze type)
DDG2P v6.17 TSHR Achchuthan Shanmugasundram edited their review of gene: TSHR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSHR-related hypothyroidism, congenital, nongoitrous are definitive, biallelic_autosomal and undetermined (PMIDs: 10720030, 11095460, 12050212, 7528344, 8954020, 9100579, 9185526, 9329388, 9589691). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01099. The DDG2P confidence category, allelic requirement and molecular mechanism for TSHR-related hyperthyroidism, familial gestational are definitive, monoallelic_autosomal and gain of function (PMID:9854118). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01423.; Changed publications to: 12050212, 10720030, 9100579, 9185526, 9329388, 8954020, 9854118, 11095460, 7528344, 9589691; Changed phenotypes to: TSHR-related hypothyroidism, congenital, nongoitrous, MONDO:0011309, OMIM:603373.0, HYPERTHYROIDISM, FAMILIAL GESTATIONAL, OMIM:603373, TSHR-related hyperthyroidism, familial gestational, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OMIM:275200, MONDO:0010142, OMIM:275200.0
DDG2P v6.17 TSEN2 Achchuthan Shanmugasundram edited their review of gene: TSEN2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSEN2-related pontocerebellar hypoplasia are strong, biallelic_autosomal and undetermined (PMIDs: 18711368, 20952379, 23562994). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01310.; Changed publications to: 18711368, 20952379, 23562994; Changed phenotypes to: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970, TSEN2-related pontocerebellar hypoplasia, MONDO:0012890, OMIM:612389.0
DDG2P v6.17 TRRAP Achchuthan Shanmugasundram edited their review of gene: TRRAP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRRAP-related autism and syndromic intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 30424743, 30827496). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02646.; Changed publications to: 30424743, 30827496; Changed phenotypes to: OMIM:618454.0, MONDO:0032760, Autism and Syndromic Intellectual Disability, TRRAP-related autism and syndromic intellectual disability
DDG2P v6.17 TRPV4 Achchuthan Shanmugasundram edited their review of gene: TRPV4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRPV4-related spondylometaphyseal dysplasia, Kozlowski type are definitive, monoallelic_autosomal and gain of function (PMIDs: 19232556, 20577006). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01027. The DDG2P confidence category, allelic requirement and molecular mechanism for TRPV4-related metatropic dysplasia are definitive, monoallelic_autosomal and undetermined (PMIDs: 19232556, 20425821, 20577006, 21964829). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01579.; Changed publications to: 20425821, 21964829, 20577006, 19232556; Changed phenotypes to: MONDO:0007986, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, OMIM:184252, METATROPIC DYSPLASIA, OMIM:156530, MONDO:0008477, OMIM:184252.0, TRPV4-related metatropic dysplasia, TRPV4-related spondylometaphyseal dysplasia, Kozlowski type, OMIM:156530.0
DDG2P v6.17 TRPM3 Achchuthan Shanmugasundram edited their review of gene: TRPM3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRPM3-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 31278393, 32439617, 34438093, 35146895, 36648066). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02899.; Changed publications to: 34438093, 31278393, 36648066, 35146895, 32439617; Changed phenotypes to: MONDO:0859365, TRPM3-related developmental disorder, OMIM:620224.0, TRPM3-related developmental disorder (monoallelic)
DDG2P v6.17 TRIT1 Achchuthan Shanmugasundram edited their review of gene: TRIT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRIT1-related tRNA isopentenyltransferase deficiency are limited, biallelic_autosomal and undetermined (PMIDs: 24901367, 28185376, 31140736, 32088416, 32948376). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01848.; Changed rating: RED; Changed publications to: 24901367, 32088416, 32948376, 28185376, 31140736; Changed phenotypes to: MONDO:0054742, OMIM:617873.0, TRIT1-related tRNA isopentenyltransferase deficiency, tRNA isopentenyltransferase deficiency
DDG2P v6.17 TRIO Achchuthan Shanmugasundram edited their review of gene: TRIO: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRIO-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 26235986, 27418539, 28928363, 32109419). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01096.; Changed publications to: 26235986, 32109419, 27418539, 28928363; Changed phenotypes to: INTELLECTUAL DISABILITY, OMIM:601893, TRIO-related intellectual disability, MONDO:0032939, OMIM:618825.0
DDG2P v6.17 TRAPPC2L Achchuthan Shanmugasundram edited their review of gene: TRAPPC2L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRAPPC2L-related encephalopathy, progressive, early-onset, with episodic rhabdomyolysis are limited, biallelic_autosomal and undetermined (PMIDs: 30120216, 32843486). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03196.; Changed publications to: 30120216, 32843486; Changed phenotypes to: TRAPPC2L-related encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331.0, TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331, MONDO:0032681
DDG2P v6.17 TRAF7 Achchuthan Shanmugasundram edited their review of gene: TRAF7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRAF7-related developmental delay congenital anomalies and dysmorphic features are strong, monoallelic_autosomal and undetermined (PMIDs: 29961569, 32376980, 32459067, 33043583, 34247275, 34513876, 35684978, 35733823, 37067385). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02612.; Changed publications to: 33043583, 35684978, 37067385, 35733823, 32376980, 34247275, 29961569, 34513876, 32459067; Changed phenotypes to: MONDO:0032572, TRAF7-related developmental delay congenital anomalies and dysmorphic features, Developmental Delay Congenital Anomalies and Dysmorphic Features, OMIM:618164.0
DDG2P v6.17 TPM3 Achchuthan Shanmugasundram edited their review of gene: TPM3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TPM3-related congenital myopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 24692096, 33768912). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03244.; Changed publications to: 24692096, 33768912; Changed phenotypes to: TPM3-related congenital myopathy, Nemaline/Cap myopathy, OMIM:255310.0, MONDO:0800341
DDG2P v6.17 TMEM216 Achchuthan Shanmugasundram edited their review of gene: TMEM216: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM216-related Joubert syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 20036350, 20512146). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00552.; Changed publications to: 20036350, 20512146; Changed phenotypes to: MONDO:0011963, TMEM216-related Joubert syndrome, JOUBERT SYNDROME 2, OMIM:608091, OMIM:608091.0
DDG2P v6.17 TMEM163 Achchuthan Shanmugasundram edited their review of gene: TMEM163: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM163-related hypomyelinating leukodystrophy are moderate, monoallelic_autosomal and undetermined (PMIDs: 35455965, 35953447). The cross-cutting modifier is typified by incomplete penetrance. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03373.; Changed publications to: 35455965, 35953447; Changed phenotypes to: TMEM163-related hypomyelinating leukodystrophy, MONDO:0859378, OMIM:620243.0
DDG2P v6.17 TMEM106B Achchuthan Shanmugasundram edited their review of gene: TMEM106B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM106B related hypomyelinating leukodystrophy are strong, monoallelic_autosomal and undetermined (PMIDs: 29186371, 29444210). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02940.; Changed phenotypes to: TMEM106B related hypomyelinating leukodystrophy, OMIM:617964.0, MONDO:0054791
DDG2P v6.17 TK2 Achchuthan Shanmugasundram edited their review of gene: TK2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TK2-related mitochondrial DNA depletion syndrome, myopathic form are definitive, biallelic_autosomal and undetermined (PMIDs: 11687801, 12391347, 12873860, 35280287, 35750291). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01507.; Changed publications to: 35750291, 12873860, 35280287, 12391347, 11687801; Changed phenotypes to: MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM, OMIM:258276, TK2-related mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301, OMIM:609560.0
DDG2P v6.17 THG1L Achchuthan Shanmugasundram edited their review of gene: THG1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for THG1L-related cerebellar ataxia are limited, biallelic_autosomal and undetermined (PMIDs: 27307223, 30214071, 31168944, 33682303, 37670026). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03161.; Changed publications to: 31168944, 37670026, 33682303, 30214071, 27307223; Changed phenotypes to: OMIM:618800.0, THG1L-related cerebellar ataxia, THG1L-associated cerebellar ataxia, OMIM:618800, MONDO:0032923
DDG2P v6.17 TGFB1 Achchuthan Shanmugasundram edited their review of gene: TGFB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TGFB1-related Camurati-Engelmann disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 10973241, 11062463, 15103729). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00412.; Changed publications to: 15103729, 11062463, 10973241; Changed phenotypes to: TGFB1-related Camurati-Engelmann disease, CAMURATI-ENGELMANN DISEASE, OMIM:131300, OMIM:131300.0, MONDO:0007542
DDG2P v6.17 TFE3 Achchuthan Shanmugasundram edited their review of gene: TFE3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFE3-related intellectual disability with pigmentary mosaicism and coarse features are definitive, monoallelic_X_heterozygous and undetermined (PMIDs: 1672758, 30595499, 31833172, 32409512, 33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03013.; Changed publications to: 1672758, 33057194, 30595499, 32409512, 31833172; Changed phenotypes to: OMIM:301066.0, MONDO:0859080, Intellectual disability with pigmentary mosaicism and storage disorder, TFE3-related intellectual disability with pigmentary mosaicism, TFE3-related intellectual disability with pigmentary mosaicism and coarse features
DDG2P v6.17 TFAP2B Achchuthan Shanmugasundram edited their review of gene: TFAP2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFAP2B-related Char syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 10802654, 11505339, 7645594). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00497.; Changed publications to: 11505339, 7645594, 10802654; Changed phenotypes to: OMIM:169100.0, CHAR SYNDROME, OMIM:169100, MONDO:0008209, TFAP2B-related Char syndrome
DDG2P v6.17 TERT Achchuthan Shanmugasundram edited their review of gene: TERT: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TERT-related dyskeratosis congenita (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 16247010, 17785587, 24628319, 25067791, 26546739, 30523342, 32315675, 34890115, 35477117, 35927969). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01663. The DDG2P confidence category, allelic requirement and molecular mechanism for TERT-related dyskeratosis congenita (monoallelic) are strong, monoallelic_autosomal and loss of function (PMIDs: 16247010, 25067791, 30523342, 35927969, 38641551). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03384.; Changed publications to: 32315675, 35477117, 35927969, 34890115, 25067791, 16247010, 26546739, 30523342, 24628319, 17785587, 38641551; Changed phenotypes to: OMIM:613989.0, Dyskeratosis Congenita, OMIM:613989, TERT-related dyskeratosis congenita (monoallelic), MONDO:0013521, TERT-related Dyskeratosis congenita, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, TERT-related dyskeratosis congenita (biallelic)
DDG2P v6.17 TELO2 Achchuthan Shanmugasundram edited their review of gene: TELO2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TELO2-related syndromic intellectual disability disorder are strong, biallelic_autosomal and undetermined (PMIDs: 27132593, 28944240, 36797513). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01733.; Changed publications to: 36797513, 28944240, 27132593; Changed phenotypes to: OMIM:616954.0, TELO2 Syndromic Intellectual Disability Disorder, TELO2-related syndromic intellectual disability disorder, MONDO:0014848
DDG2P v6.17 TDRD7 Achchuthan Shanmugasundram edited their review of gene: TDRD7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TDRD7-related cataract with or without azoospermia are moderate, biallelic_autosomal and loss of function (PMIDs: 21436445, 28418495, 31048812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01467.; Changed publications to: 21436445, 31048812, 28418495; Changed phenotypes to: TDRD7-related cataract with or without azoospermia, CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887, TDRD7-related cataract with or without azoospermia, OMIM:613887, OMIM:613887.0, MONDO:0013484
DDG2P v6.17 TCEAL1 Achchuthan Shanmugasundram edited their review of gene: TCEAL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TCEAL1-related neurodevelopmental disorder are moderate, monoallelic_X_hemizygous and undetermined (PMIDs: 36368327, 38200082). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03454.; Changed publications to: 38200082, 36368327; Changed phenotypes to: TCEAL1-related neurodevelopmental disorder, OMIM:301094.0, MONDO:0859085
DDG2P v6.17 TBXAS1 Achchuthan Shanmugasundram edited their review of gene: TBXAS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TBXAS1-related ghosal hematodiaphyseal syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 18264100, 33595912, 35395429). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00704.; Changed publications to: 18264100, 33595912, 35395429; Changed phenotypes to: MONDO:0009274, GHOSAL HEMATODIAPHYSEAL SYNDROME, OMIM:231095, TBXAS1-related ghosal hematodiaphyseal syndrome, OMIM:231095.0
DDG2P v6.17 TAB2 Achchuthan Shanmugasundram edited their review of gene: TAB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TAB2-related nonsyndromic congenital heart disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 20493459, 27479907). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01246.; Changed phenotypes to: OMIM:612863.0, CONGENITAL HEART DISEASE, NONSYNDROMIC, 2, OMIM:612863, TAB2-related nonsyndromic congenital heart disease, MONDO:0013025
DDG2P v6.17 SYT1 Achchuthan Shanmugasundram edited their review of gene: SYT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SYT1-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 25705886, 30107533). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00305.; Changed phenotypes to: INTELLECTUAL DISABILITY, OMIM:616579, OMIM:618218.0, SYT1-related intellectual disability
DDG2P v6.17 SUFU Achchuthan Shanmugasundram edited their review of gene: SUFU: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SUFU-related Joubert syndrome with cranio-facial and skeletal defects are strong, biallelic_autosomal and undetermined (PMID:28965847). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02372. The DDG2P confidence category, allelic requirement and molecular mechanism for SUFU-related Joubert and congenital ocular motor apraxia are strong, monoallelic_autosomal and undetermined (PMIDs: 33024317, 34675124). The cross-cutting modifier is typified by incomplete penetrance. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03224.; Changed phenotypes to: MONDO:0033309, SUFU-related Joubert and congenital ocular motor apraxia, OMIM:617757.0, SUFU-related Joubert syndrome with cranio-facial and skeletal defects, Joubert Syndrome with Cranio-facial and Skeletal Defects
DDG2P v6.17 ST3GAL3 Achchuthan Shanmugasundram edited their review of gene: ST3GAL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ST3GAL3-related intellectual developmental disorder are strong, biallelic_autosomal and undetermined (PMIDs: 17120046, 21907012). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01455.; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12, OMIM:611090, OMIM:611090.0, MONDO:0012612, ST3GAL3-related intellectual developmental disorder
DDG2P v6.17 ST14 Achchuthan Shanmugasundram edited their review of gene: ST14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ST14-related ichthyosis with hypotrichosis are strong, biallelic_autosomal and undetermined (PMIDs: 17273967, 18445049). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01285.; Changed publications to: 17273967, 18445049; Changed phenotypes to: OMIM:602400.0, MONDO:0011218, ST14-related ichthyosis with hypotrichosis, ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS, OMIM:610765
DDG2P v6.17 SRCAP Achchuthan Shanmugasundram edited their review of gene: SRCAP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SRCAP-related Floating-Harbor syndrome are definitive, monoallelic_autosomal and dominant negative (PMIDs: 22265015, 22965468, 23165645, 23621943, 23763483, 24375913, 25433523, 26788936, 30304910, 30425916, 32924116). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00246. The DDG2P confidence category, allelic requirement and molecular mechanism for SRCAP-related neurodevelopmental disorder are strong, monoallelic_autosomal and loss of function (PMIDs: 33909990, 34213696, 37340855). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03152.; Changed publications to: 32924116, 33909990, 26788936, 24375913, 30425916, 22265015, 30304910, 34213696, 22965468, 23165645, 25433523, 23621943, 23763483, 37340855; Changed phenotypes to: MONDO:0007621, SRCAP-related Neurodevelopmental Disorder, SRCAP-related Floating-Harbor syndrome, OMIM:136140.0, SRCAP-related neurodevelopmental disorder, FLOATING-HARBOR SYNDROME, OMIM:136140, MONDO:0859202, OMIM:619595.0
DDG2P v6.17 SPTLC2 Achchuthan Shanmugasundram edited their review of gene: SPTLC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPTLC2-related neuropathy, hereditary sensory and autonomic are strong, monoallelic_autosomal and undetermined (PMIDs: 20920666, 23658386, 25567748, 30866134, 31509666). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01537.; Changed publications to: 31509666, 25567748, 23658386, 30866134, 20920666; Changed phenotypes to: MONDO:0013337, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640, SPTLC2-related neuropathy, hereditary sensory and autonomic, OMIM:613640.0
DDG2P v6.17 SPECC1L Achchuthan Shanmugasundram edited their review of gene: SPECC1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPECC1L-related facial clefting, oblique are strong, monoallelic_autosomal and undetermined (PMIDs: 21703590, 2541274). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01400.; Changed publications to: 2541274, 21703590; Changed phenotypes to: SPECC1L-related facial clefting, oblique, FACIAL CLEFTING, OBLIQUE, 1, OMIM:600251, OMIM:600251.0
DDG2P v6.17 SPAST Achchuthan Shanmugasundram edited their review of gene: SPAST: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPAST-related developmental disorder are strong, monoallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02859. The DDG2P confidence category, allelic requirement and molecular mechanism for SPAST-related spastic paraplegia are definitive, monoallelic_autosomal and loss of function (PMIDs: 10610178, 10699187, 11309678, 11843700, 16055926, 18701882, 36452170, 37251230, 37473796, 38145127, 40019011). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03840.; Changed publications to: 16055926, 37251230, 36452170, 11843700, 40019011, 10699187, 18701882, 11309678, 38145127, 10610178, 37473796; Changed phenotypes to: OMIM:182601.0, SPAST-related developmental disorder, MONDO:0700092, SPAST-related developmental disorder (monoallelic), SPAST-related spastic paraplegia, MONDO:0008438
DDG2P v6.17 SOX4 Achchuthan Shanmugasundram edited their review of gene: SOX4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SOX4-related neurodevelopmental disease associated with mild dysmorphism are strong, monoallelic_autosomal and undetermined (PMIDs: 30661772, 35232796). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02643.; Changed publications to: 30661772, 35232796; Changed phenotypes to: Neurodevelopmental Disease Associated with Mild Dysmorphism, SOX4-related neurodevelopmental disease associated with mild dysmorphism, OMIM:618506.0, MONDO:0032791
DDG2P v6.17 SOX11 Achchuthan Shanmugasundram edited their review of gene: SOX11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SOX11-related neurodevelopmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 24886874, 26543203, 35341651). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00338.; Changed phenotypes to: MONDO:0014376, SOX11-related neurodevelopmental disorder, OMIM:615866, SOX11-related neurodevelopmental disorder, OMIM:615866.0
DDG2P v6.17 SOS2 Achchuthan Shanmugasundram edited their review of gene: SOS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SOS2-related Noonan syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 25795793, 26173643, 32788663). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03139.; Changed phenotypes to: SOS2-related Noonan syndrome, OMIM:616559.0, MONDO:0014691, SOS-2 associated Noonan syndrome, OMIM:616559
DDG2P v6.17 SNRPE Achchuthan Shanmugasundram edited their review of gene: SNRPE: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SNRPE-related hypotrichosis simplex are strong, monoallelic_autosomal and undetermined (PMIDs: 23246290, 33792916, 36814386, 9621144). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00962.; Changed publications to: 36814386, 9621144, 23246290, 33792916; Changed phenotypes to: AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX, OMIM:615059, OMIM:615059.0, MONDO:0014027, SNRPE-related hypotrichosis simplex
DDG2P v6.17 SNAP25 Achchuthan Shanmugasundram edited their review of gene: SNAP25: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SNAP25-related epilepsy and intellectual disability are definitive, monoallelic_autosomal and loss of function (PMIDs: 29100083, 33299146). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02378.; Changed phenotypes to: OMIM:616330.0, SNAP25-related epilepsy and intellectual disability, Epilepsy and intellectual disability, MONDO:0014590
DDG2P v6.17 SMO Achchuthan Shanmugasundram edited their review of gene: SMO: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMO-related Curry-Jones syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 27236920, 28386950, 31825089). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01746. The DDG2P confidence category, allelic requirement and molecular mechanism for SMO-related developmental disorder are strong, biallelic_autosomal and loss of function (PMID:32413283). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02966.; Changed publications to: 28386950, 32413283, 31825089, 27236920; Changed phenotypes to: Curry-Jones Syndrome, OMIM:601707, SMO-related developmental disorder, SMO-related Curry-Jones syndrome, MONDO:0011134, OMIM:601707.0, OMIM:241800.0, MONDO:0009436
DDG2P v6.17 SMCHD1 Achchuthan Shanmugasundram edited their review of gene: SMCHD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMCHD1-related isolated arhinia/Bosma arhinia syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 28067909, 28067911). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01773.; Changed publications to: 28067911, 28067909; Changed phenotypes to: SMCHD1-related isolated arhinia/Bosma arhinia syndrome, MONDO:0011323, Isolated Arhinia/Bosma Arhinia syndrome, OMIM:603457.0
DDG2P v6.17 SMC3 Achchuthan Shanmugasundram edited their review of gene: SMC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMC3-related Cornelia de Lange syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 17273969, 20358602, 25125236, 25655089). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00659.; Changed publications to: 17273969, 25655089, 20358602, 25125236; Changed phenotypes to: OMIM:610759.0, SMC3-related Cornelia de Lange syndrome, CORNELIA DE LANGE SYNDROME TYPE 3, OMIM:610759, MONDO:0012555
DDG2P v6.17 SMARCD1 Achchuthan Shanmugasundram edited their review of gene: SMARCD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMARCD1-related syndromic intellectual disability are moderate, monoallelic_autosomal and undetermined (PMIDs: 30879640, 38114583, 39389935). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02772.; Changed publications to: 39389935, 30879640, 38114583; Changed phenotypes to: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100, SMARCD1-related syndromic intellectual disability, MONDO:0032912, OMIM:618779.0
DDG2P v6.17 SMARCA2 Achchuthan Shanmugasundram edited their review of gene: SMARCA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMARCA2-related Nicolaides-Baraitser syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 22366787, 22426308, 22822383, 25169058, 27665729, 28948053, 31288860, 31813144, 32657847, 32694869, 34296532, 34521483, 35811451). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00849.; Changed publications to: 28948053, 22822383, 32694869, 34296532, 27665729, 22426308, 25169058, 31288860, 32657847, 31813144, 34521483, 35811451, 22366787; Changed phenotypes to: OMIM:601358.0, SMARCA2-related Nicolaides-Baraitser syndrome, MONDO:0011053, SMARCA2-related Nicolaides-Baraitser syndrome, OMIM:601358
DDG2P v6.17 SLC4A1 Achchuthan Shanmugasundram edited their review of gene: SLC4A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC4A1-related renal tubular acidosis, distal (monoallelic) are strong, monoallelic_autosomal and undetermined (PMIDs: 37775346, 9312167, 9600966). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00171. The DDG2P confidence category, allelic requirement and molecular mechanism for SLC4A1-related renal tubular acidosis, distal (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 10926824, 31933135, 9854053). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00185.; Changed publications to: 9600966, 37775346, 31933135, 9312167, 9854053, 10926824; Changed phenotypes to: SLC4A1-related renal tubular acidosis, distal (monoallelic), RENAL TUBULAR ACIDOSIS, DISTAL, AR, OMIM:611590, OMIM:179800.0, SLC4A1-related renal tubular acidosis, distal (biallelic), MONDO:0008368, RENAL TUBULAR ACIDOSIS, DISTAL, AD, OMIM:179800
DDG2P v6.17 SLC39A8 Achchuthan Shanmugasundram edited their review of gene: SLC39A8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC39A8-related intellectual disability with cerebellar atrophy are definitive, biallelic_autosomal and undetermined (PMIDs: 26637978, 26637979). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01660.; Changed publications to: 26637979, 26637978; Changed phenotypes to: OMIM:616721.0, Intellectual Disability with Cerebellar Atrophy, SLC39A8-related intellectual disability with cerebellar atrophy, MONDO:0014746
DDG2P v6.17 SLC32A1 Achchuthan Shanmugasundram edited their review of gene: SLC32A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC32A1-related developmental and epileptic encephalopathy are moderate, monoallelic_autosomal and undetermined (PMIDs: 34038384, 36073542). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03331.; Changed publications to: 36073542, 34038384; Changed phenotypes to: SLC32A1-related developmental and epileptic encephalopathy, MONDO:0958331, OMIM:620774.0, SLC32A1-associated developmental and epileptic encephalopathy
DDG2P v6.17 SLC31A1 Achchuthan Shanmugasundram edited their review of gene: SLC31A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC31A1-related congenital copper transport disorder are moderate, biallelic_autosomal and undetermined (PMIDs: 21937992, 35913762, 36562171). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01558.; Changed publications to: 21937992, 36562171, 35913762; Changed phenotypes to: SLC31A1-associated congenital copper transport disorder, OMIM:620306.0, MONDO:0957211, SLC31A1-related congenital copper transport disorder
DDG2P v6.17 SLC25A4 Achchuthan Shanmugasundram edited their review of gene: SLC25A4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A4-related severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number are strong, monoallelic_autosomal and undetermined (PMIDs: 27693233, 30046662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01880. The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A4-related Fontaine progeroid syndrome are strong, monoallelic_autosomal and undetermined (PMID:30329211). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02572.; Changed publications to: 30329211, 27693233, 30046662; Changed phenotypes to: Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, SLC25A4-related severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number, SLC25A4-related Fontaine progeroid syndrome, MONDO:0014959, Fontaine progeroid syndrome, OMIM:617184.0, MONDO:0012853
DDG2P v6.17 SLC25A24 Achchuthan Shanmugasundram edited their review of gene: SLC25A24: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A24-related hypertrichosis, progeroid appearance, and mitochondrial dysfunction (Gorlin-Chaudhry-Moss syndrome ) are definitive, monoallelic_autosomal and undetermined (PMIDs: 29100093, 29100094). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02383.; Changed publications to: 29100093, 29100094; Changed phenotypes to: SLC25A24-related hypertrichosis, progeroid appearance, and mitochondrial dysfunction (Gorlin-Chaudhry-Moss syndrome ), OMIM:612289.0, Gorlin-Chaudhry-Moss syndrome (GCMS), MONDO:0012853, Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
DDG2P v6.17 SLC25A22 Achchuthan Shanmugasundram edited their review of gene: SLC25A22: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A22-related epileptic encephalopathy, early infantile are strong, biallelic_autosomal and undetermined (PMIDs: 15592994, 19780765, 24596948, 31279168, 33821742). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00635.; Changed publications to: 33821742, 15592994, 19780765, 31279168, 24596948; Changed phenotypes to: OMIM:609304.0, SLC25A22-related epileptic encephalopathy, early infantile, MONDO:0012245, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, OMIM:609304
DDG2P v6.17 SLC1A2 Achchuthan Shanmugasundram edited their review of gene: SLC1A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC1A2-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 27476654, 28777935). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01865.; Changed phenotypes to: EPILEPTIC ENCEPHALOPATHY, SLC1A2-related epileptic encephalopathy, MONDO:0014916, OMIM:617105.0
DDG2P v6.17 SLC13A1 Achchuthan Shanmugasundram edited their review of gene: SLC13A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC13A1-related hypersulfaturia and hyposulfatemia are moderate, biallelic_autosomal and loss of function (PMIDs: 36175384, 39925707). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03395.; Changed rating: GREEN; Changed publications to: 39925707, 36175384; Changed phenotypes to: SLC13A1-associated hypersulfaturia and hyposulfatemia, SLC13A1-related hypersulfaturia and hyposulfatemia
DDG2P v6.17 SLC12A5 Achchuthan Shanmugasundram edited their review of gene: SLC12A5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC12A5-related epilepsy of infancy with migrating focal seizures are strong, biallelic_autosomal and undetermined (PMIDs: 26333769, 27436767, 28477354). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00696.; Changed publications to: 27436767, 28477354, 26333769; Changed phenotypes to: SLC12A5-related epilepsy of infancy with migrating focal seizures, MONDO:0100025
DDG2P v6.17 SKI Achchuthan Shanmugasundram edited their review of gene: SKI: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SKI-related Shprintzen-Goldberg craniosynostosis syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 23023332, 23103230, 24736733, 33628537). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01276.; Changed publications to: 33628537, 24736733, 23103230, 23023332; Changed phenotypes to: SKI-related Shprintzen-Goldberg craniosynostosis syndrome, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212, MONDO:0008426, OMIM:182212.0
DDG2P v6.17 SHOX Achchuthan Shanmugasundram edited their review of gene: SHOX: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SHOX-related Langer mesomelic dysplasia are definitive, monoallelic_X_hemizygous and loss of function (PMIDs: 11889214, 12116254, 17935511, 9590292). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00460. The DDG2P confidence category, allelic requirement and molecular mechanism for SHOX-related Leri-Weill dyschondrosteosis are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 11030412, 11403039, 15356038, 21712857, 9590293). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01278.; Changed publications to: 9590293, 11030412, 9590292, 17935511, 12116254, 11889214, 11403039, 15356038, 21712857; Changed phenotypes to: OMIM:127300.0, SHOX-related Leri-Weill dyschondrosteosis, LERI-WEILL DYSCHONDROSTEOSIS, OMIM:127300, OMIM:249700.0, LANGER MESOMELIC DYSPLASIA, OMIM:249700, MONDO:0009588, MONDO:0007481, SHOX-related Langer mesomelic dysplasia; Changed 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 v6.17 SEMA6B Achchuthan Shanmugasundram edited their review of gene: SEMA6B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SEMA6B-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 32169168, 33798445, 34017830, 34092044, 34110594, 34218423, 35604360). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02945.; Changed publications to: 32169168, 35604360, 34017830, 34218423, 33798445, 34110594, 34092044; Changed phenotypes to: SEMA6B-related neurodevelopmental disorder, MONDO:0030034, OMIM:618876.0
DDG2P v6.17 SEC61A1 Achchuthan Shanmugasundram edited their review of gene: SEC61A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SEC61A1-related tubulo-interstitial and glomerulocystic kidney disease with anemia are limited, monoallelic_autosomal and undetermined (PMIDs: 27392076, 33185949, 39976632). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01752.; Changed publications to: 39976632, 27392076, 33185949; Changed phenotypes to: SEC61A1-related tubulo-interstitial and glomerulocystic kidney disease with anemia, Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia, MONDO:0100337, OMIM:617056.0
DDG2P v6.17 SDHAF1 Achchuthan Shanmugasundram edited their review of gene: SDHAF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SDHAF1-related mitochondrial complex II deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 19465911, 22995659). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01012.; Changed publications to: 22995659, 19465911; Changed phenotypes to: MONDO:0030935, OMIM:619166.0, MITOCHONDRIAL COMPLEX II DEFICIENCY, OMIM:252011, SDHAF1-related mitochondrial complex II deficiency
DDG2P v6.17 SDHA Achchuthan Shanmugasundram edited their review of gene: SDHA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SDHA-related Leigh syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 16361598, 24781757, 35014173). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01098.; Changed publications to: 16361598, 35014173, 24781757; Changed phenotypes to: MONDO:0100294, LEIGH SYNDROME, OMIM:256000, OMIM:252011.0, SDHA-related Leigh syndrome
DDG2P v6.17 SCN4A Achchuthan Shanmugasundram edited their review of gene: SCN4A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related hypokalemic periodic paralysis are definitive, monoallelic_autosomal and undetermined (PMIDs: 10599760, 10851391, 10944223, 11591859, 16890191). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00228. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related hyperkalemic periodic paralysis are definitive, monoallelic_autosomal and gain of function (PMIDs: 15596759, 1659668, 1659948). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00392. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related paramyotonia congenita of von Eulenburg are definitive, monoallelic_autosomal and undetermined (PMIDs: 10369308, 1310898, 1316765, 1338909, 17998485, 18203179, 19015483, 19015492, 8388676, 8580427). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00709.; Changed publications to: 1310898, 10369308, 16890191, 11591859, 19015492, 17998485, 1659668, 10851391, 18203179, 10944223, 19015483, 10599760, 8580427, 1338909, 1316765, 1659948, 15596759, 8388676; Changed phenotypes to: SCN4A-related paramyotonia congenita of von Eulenburg, SCN4A-related hypokalemic periodic paralysis, SCN4A-related hyperkalemic periodic paralysis, OMIM:613345.0, PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300, HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500, OMIM:170500.0, MONDO:0013234, MONDO:0008224, OMIM:168300.0, MONDO:0008195
DDG2P v6.17 SCN3A Achchuthan Shanmugasundram edited their review of gene: SCN3A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SCN3A-related focal epilepsy are strong, monoallelic_autosomal and undetermined (PMIDs: 18242854, 24157691). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01652.; Changed phenotypes to: SCN3A-related focal epilepsy, OMIM:617935.0, MONDO:0054776, Focal epilepsy
DDG2P v6.17 SCN1B Achchuthan Shanmugasundram edited their review of gene: SCN1B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SCN1B-related generalized epilepsy with febrile seizures plus or temporal lobe epilepsy are definitive, monoallelic_autosomal and undetermined (PMIDs: 12011299, 14504340, 17020904, 19522081, 21040232, 27277800, 29992740, 30660056, 36291443, 9697698). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01480. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN1B-related developmental and epileptic encephalopathy are definitive, biallelic_autosomal and undetermined non-loss-of-function (PMIDs: 19710327, 23148524, 28218389, 31465153, 31709768, 33901312). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03722.; Changed publications to: 12011299, 36291443, 21040232, 33901312, 31465153, 23148524, 19522081, 17020904, 9697698, 31709768, 28218389, 14504340, 29992740, 30660056, 18464934, 27277800, 19710327; Changed phenotypes to: SCN1B-related developmental and epileptic encephalopathy, MONDO:0033361, SCN1B-related generalized epilepsy with febrile seizures plus or temporal lobe epilepsy, MONDO:0011416, BRUGADA SYNDROME 5, OMIM:612838, OMIM:604233.0, OMIM:617350.0; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.17 SC5D Achchuthan Shanmugasundram edited their review of gene: SC5D: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SC5D-related lathosterolosis are definitive, biallelic_autosomal and undetermined (PMIDs: 12189593, 12812989). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00878.; Changed phenotypes to: MONDO:0011816, SC5D-related lathosterolosis, LATHOSTEROLOSIS, OMIM:607330, OMIM:607330.0
DDG2P v6.17 SASS6 Achchuthan Shanmugasundram edited their review of gene: SASS6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SASS6-related severe microcephaly with brain abnormalities are moderate, biallelic_autosomal and undetermined (PMIDs: 24951542, 30639237, 36739862, 38501757). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03564.; Changed publications to: 24951542, 38501757, 36739862, 30639237; Changed phenotypes to: MONDO:0014623, SASS6-related severe microcephaly with brain abnormalities, OMIM:616402.0
DDG2P v6.17 SARS2 Achchuthan Shanmugasundram edited their review of gene: SARS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis are strong, biallelic_autosomal and undetermined (PMIDs: 21255763, 24034276, 33751860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03113.; Changed phenotypes to: SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845, SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845.0, MONDO:0013458
DDG2P v6.17 SARS Achchuthan Shanmugasundram edited their review of gene: SARS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures are moderate, biallelic_autosomal and undetermined (PMIDs: 28236339, 34570399). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03234. The DDG2P confidence category, allelic requirement and molecular mechanism for SARS1-related neurodevelopmental disorder are limited, monoallelic_autosomal and dominant negative (PMID:36041817). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03434.; Changed phenotypes to: OMIM:617709.0, MONDO:0060577, SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, Autosomal dominant SARS1-related neurodevelopmental disorder, MONDO:0700092, SARS1-related neurodevelopmental disorder, SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
DDG2P v6.17 RYR2 Achchuthan Shanmugasundram edited their review of gene: RYR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RYR2-related catecholaminergic polymorphic ventricular tachycardia and intellectual disability are limited, monoallelic_autosomal and undetermined (PMIDs: 11157710, 15544013, 15544015, 15720454, 16084945, 16188589, 16272262, 17875969, 19781797, 19926015, 21126784, 21652165, 22222782, 22334434, 22519458, 30170228). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03201.; Changed publications to: 16188589, 30170228, 15544013, 16084945, 22222782, 15544015, 22334434, 19926015, 15720454, 17875969, 19781797, 21126784, 16272262, 21652165, 22519458, 11157710; Changed phenotypes to: RYR2-related catecholaminergic polymorphic ventricular tachycardia and intellectual disability, RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability
DDG2P v6.17 RUBCN Achchuthan Shanmugasundram edited their review of gene: RUBCN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RUBCN-related syndromic intellectual disability with ataxia, dysarthria and epilepsy are limited, biallelic_autosomal and undetermined (PMIDs: 20826435, 32450808). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00613.; Changed publications to: 32450808, 20826435; Changed phenotypes to: OMIM:615705.0, RUBCN-related syndromic intellectual disability with ataxia, dysarthria and epilepsy, SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY, MONDO:0014311
DDG2P v6.17 RTTN Achchuthan Shanmugasundram edited their review of gene: RTTN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RTTN-related bilateral diffuse polymicrogyria are definitive, biallelic_autosomal and undetermined (PMIDs: 22939636, 26608784, 29883675). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01577.; Changed phenotypes to: RTTN-related bilateral diffuse polymicrogyria, MONDO:0018764, BILATERAL DIFFUSE POLYMICROGYRIA, OMIM:614833, OMIM:614833.0
DDG2P v6.17 RTEL1 Achchuthan Shanmugasundram edited their review of gene: RTEL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RTEL1-related dyskeratosis congenita are moderate, monoallelic_autosomal and loss of function (PMIDs: 23329068, 23453664). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03361. The DDG2P confidence category, allelic requirement and molecular mechanism for RTEL1-related dyskeratosis congenita are definitive, biallelic_autosomal and loss of function (PMIDs: 23329068, 23453664, 23591994, 23959892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03386.; Changed publications to: 23453664, 23959892, 23329068, 23591994; Changed phenotypes to: OMIM:615190.0, RTEL1-related dyskeratosis congenita, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190, MONDO:0014076; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.17 RPL10 Achchuthan Shanmugasundram edited their review of gene: RPL10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RPL10-related syndromic intellectual developmental disorder are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 25316788, 25846674, 26290468, 29066376, 35876338). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03002.; Changed publications to: 26290468, 35876338, 25846674, 29066376, 25316788; Changed phenotypes to: RPL10-related syndromic intellectual developmental disorder, MONDO:0030908, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998, OMIM:300998.0
DDG2P v6.17 RNU4ATAC Achchuthan Shanmugasundram edited their review of gene: RNU4ATAC: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNU4ATAC-related microcephalic osteodysplastic primordial dwarfism are definitive, biallelic_autosomal and undetermined (PMIDs: 17666473, 21474760, 21474761, 22581640). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00669.; Changed publications to: 21474760, 21474761, 22581640, 17666473; Changed phenotypes to: OMIM:210710.0, RNU4ATAC-related microcephalic osteodysplastic primordial dwarfism, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I, OMIM:210710, MONDO:0008871
DDG2P v6.17 RNU4-2 Achchuthan Shanmugasundram edited their review of gene: RNU4-2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNU4-2 related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome) are strong, monoallelic_autosomal and loss of function (PMIDs: 38821540, 38991538, 39369315, 39434505, 40011755, 40379786). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03537.; Changed publications to: 38991538, 39369315, 40011755, 39434505, 38821540, 40379786; Changed phenotypes to: RNU4-2 related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome), OMIM:620851.0, MONDO:0971172, RNU4-2 related neurodevelopmental disorder with microcephaly and seizures
DDG2P v6.17 RNU12 Achchuthan Shanmugasundram edited their review of gene: RNU12: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNU12-related CDAGS syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 27863452, 34085356). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03197.; Changed publications to: 34085356, 27863452; Changed phenotypes to: MONDO:0011287, RNU12-related CDAGS syndrome, OMIM:603116.0
DDG2P v6.17 RNF125 Achchuthan Shanmugasundram edited their review of gene: RNF125: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNF125-related intellectual disability and macrocephaly are limited, monoallelic_autosomal and undetermined (PMIDs: 25196541, 34196401). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03221.; Changed phenotypes to: RNF125-related intellectual disability and macrocephaly, OMIM:616260, OMIM:616260.0, RNF125-related intellectual disability and macrocephaly, MONDO:0014553
DDG2P v6.17 DDX58 Achchuthan Shanmugasundram edited their review of gene: DDX58: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RIGI-related Singleton-Merten syndrome are limited, monoallelic_autosomal and undetermined (PMIDs: 25620203, 30574673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01163.; Changed publications to: 30574673, 25620203; Changed phenotypes to: RIGI-related Singleton-Merten syndrome, MONDO:0014575, SINGLETON-MERTEN SYNDROME, OMIM:182250, OMIM:616298.0
DDG2P v6.17 RBPJ Achchuthan Shanmugasundram edited their review of gene: RBPJ: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RBPJ-related Adams-Oliver syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 22883147, 28160419). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01131.; Changed publications to: 22883147, 28160419; Changed phenotypes to: OMIM:614814.0, ADAMS OLIVER SYNDROME, MONDO:0013895, RBPJ-related Adams-Oliver syndrome
DDG2P v6.17 RAP1B Achchuthan Shanmugasundram edited their review of gene: RAP1B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAP1B-related developmental disorder are limited, monoallelic_autosomal and undetermined (PMIDs: 26280580, 32627184). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03053.; Changed publications to: 26280580, 32627184; Changed phenotypes to: OMIM:620654.0, RAP1B-related developmental disorder, MONDO:0958000
DDG2P v6.17 RAC1 Achchuthan Shanmugasundram edited their review of gene: RAC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAC1-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 28886345, 35139179). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02367.; Changed phenotypes to: OMIM:617751.0, MONDO:0030913, RAC1-related neurodevelopmental disorder
DDG2P v6.17 RAB34 Achchuthan Shanmugasundram edited their review of gene: RAB34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAB34-related orofaciodigital syndrome are moderate, biallelic_autosomal and loss of function (PMIDs: 37384395, 37619988). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03529.; Changed publications to: 37384395, 37619988; Changed phenotypes to: RAB34-related orofaciodigital syndrome, OMIM:620718.0, MONDO:0958230
DDG2P v6.17 PTPN11 Achchuthan Shanmugasundram edited their review of gene: PTPN11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PTPN11-related Noonan syndrome with multiple lentigines are definitive, monoallelic_autosomal and undetermined (PMIDs: 11992261, 12058348, 12161596, 14634749, 14961557, 14991917, 15121796, 15389709, 15520399, 16172598, 16358218, 16377799, 16679933, 16733669, 17697839, 17875892, 17927788, 19054014, 19659470, 19768645, 19864201, 21365175, 21677813, 21747628, 21910226, 22822385, 23799168, 24790373, 24820750, 25884655, 25917897, 26377839, 27484170, 33354767). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00841. The DDG2P confidence category, allelic requirement and molecular mechanism for PTPN11-related Noonan syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 11704759, 11992261, 12161469, 12325025, 12357036, 12522798, 12529711, 12872825, 14974085, 15211660, 15240615, 15248152, 15384080, 15521065, 15889278, 15929108, 15956085, 15985475, 16078230, 16188759, 16358218, 16804314, 17052965, 17184563, 17194341, 17339163, 17361219, 17497712, 17515436, 18348260, 19449407, 19760651, 21269411, 21533187, 23312968, 24739123, 25974318, 30681346). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03310.; Changed publications to: 12325025, 21677813, 24790373, 14991917, 19054014, 17927788, 12161469, 12529711, 15889278, 16804314, 15985475, 17194341, 16679933, 17361219, 16188759, 15929108, 16358218, 15389709, 17339163, 15248152, 26377839, 24820750, 33354767, 21910226, 11704759, 23312968, 25917897, 19659470, 24739123, 11992261, 22822385, 12357036, 14961557, 12872825, 17184563, 12058348, 12161596, 15240615, 15520399, 14634749, 21365175, 15211660, 15521065, 15956085, 25974318, 17697839, 16733669, 19864201, 18348260, 23799168, 15121796, 19449407, 14974085, 21747628, 16172598, 27484170, 17515436, 21269411, 15384080, 12522798, 16078230, 17052965, 17875892, 19760651, 21533187, 30681346, 25884655, 19768645, 16377799, 17497712; Changed phenotypes to: MONDO:0100082, LEOPARD SYNDROME TYPE 1, OMIM:151100, PTPN11-related Noonan syndrome, PTPN11-related Noonan syndrome with multiple lentigines, OMIM:151100.0, MONDO:0008104, NOONAN SYNDROME 1, OMIM:163950
DDG2P v6.17 PSMB8 Achchuthan Shanmugasundram edited their review of gene: PSMB8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMB8-related Nakajo syndrome are definitive, biallelic_autosomal and loss of function (PMIDs: 21129723, 21852578, 21881205, 21953331, 26524591, 37600812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00131.; Changed publications to: 26524591, 21129723, 21881205, 37600812, 21852578, 21953331; Changed phenotypes to: NAKAJO SYNDROME, OMIM:256040, OMIM:256040.0, PSMB8-related Nakajo syndrome, MONDO:0054698
DDG2P v6.17 PRRX1 Achchuthan Shanmugasundram edited their review of gene: PRRX1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRRX1-related agnathia-otocephaly complex are limited, monoallelic_autosomal and dominant negative (PMIDs: 21294718, 22211708, 22674740, 23444262, 37154149). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00249. The DDG2P confidence category, allelic requirement and molecular mechanism for PRRX1-related craniosynostosis are moderate, monoallelic_autosomal and undetermined (PMID:37154149). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02554. The DDG2P confidence category, allelic requirement and molecular mechanism for PRRX1-related agnathia-otocephaly complex are limited, biallelic_autosomal and undetermined (PMIDs: 22211708, 23444262). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02581.; Changed publications to: 22211708, 37154149, 22674740, 21294718, 23444262; Changed phenotypes to: AGNATHIA-OTOCEPHALY COMPLEX monoallelic, MONDO:0008740, AGNATHIA-OTOCEPHALY COMPLEX biallelic, OMIM:202650.0, PRRX1-related craniosynostosis, MONDO:0015469, PRRX1-related agnathia-otocephaly complex
DDG2P v6.17 PRKD1 Achchuthan Shanmugasundram edited their review of gene: PRKD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKD1-related syndromic congenital heart defects are definitive, monoallelic_autosomal and undetermined (PMIDs: 27479907, 32817298, 36308391, 38677542). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01768.; Changed publications to: 27479907, 36308391, 32817298, 38677542; Changed phenotypes to: PRKD1-related syndromic congenital heart defects, Syndromic congenital heart defects, OMIM:617364.0, MONDO:0044303
DDG2P v6.17 PRKAR1B Achchuthan Shanmugasundram commented on gene: PRKAR1B: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKAR1B-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 33057194, 33833410). The cross-cutting modifiers are potential secondary finding and restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03017.
DDG2P v6.17 PPA2 Achchuthan Shanmugasundram edited their review of gene: PPA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PPA2-related sudden arrhythmic cardiac death after infectious or alcohol trigger are definitive, biallelic_autosomal and undetermined (PMIDs: 27523597, 27523598, 34400813). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01771.; Changed publications to: 27523597, 27523598, 34400813; Changed phenotypes to: Sudden arrhythmic cardiac death after infectious or alcohol trigger, PPA2-related sudden arrhythmic cardiac death after infectious or alcohol trigger, OMIM:617223.0, MONDO:0014974
DDG2P v6.17 POLR2A Achchuthan Shanmugasundram edited their review of gene: POLR2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POLR2A-related syndromic intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 31353023, 33665635, 35461703). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02762.; Changed publications to: 33665635, 31353023, 35461703; Changed phenotypes to: OMIM:618603.0, MONDO:0032829, POLR2A-related syndromic intellectual disability, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100
DDG2P v6.17 POLG Achchuthan Shanmugasundram edited their review of gene: POLG: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POLG-related mitochondrial DNA depletion syndrome, Alpers type are definitive, biallelic_autosomal and undetermined (PMIDs: 15122711, 15929042, 16130100, 32391929). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01327.; Changed publications to: 32391929, 16130100, 15122711, 15929042; Changed phenotypes to: OMIM:203700.0, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A, OMIM:203700, MONDO:0008758, POLG-related mitochondrial DNA depletion syndrome, Alpers type
DDG2P v6.17 POLD1 Achchuthan Shanmugasundram edited their review of gene: POLD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POLD1-related subcutaneous lipodystrophy, deafness, mandibular hypoplasia and male hypogonadism are definitive, monoallelic_autosomal and undetermined (PMIDs: 23770608, 26172944, 28521875, 28791128, 29199204, 30023403, 32826474, 36280868). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00218.; Changed publications to: 23770608, 30023403, 28791128, 36280868, 26172944, 32826474, 28521875, 29199204; Changed phenotypes to: OMIM:615381.0, POLD1-related subcutaneous lipodystrophy, deafness, mandibular hypoplasia and male hypogonadism, MONDO:0014157, SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
DDG2P v6.17 PNPLA1 Achchuthan Shanmugasundram edited their review of gene: PNPLA1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PNPLA1-related congenital ichthyosis are strong, biallelic_autosomal and undetermined (PMIDs: 22246504, 24344921, 26691440, 28403545, 31120544, 31833240, 33786896, 34899144, 36647593). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00829.; Changed publications to: 36647593, 24344921, 26691440, 22246504, 28403545, 34899144, 33786896, 31120544, 31833240; Changed phenotypes to: CONGENITAL ICHTHYOSIS, PNPLA1-related congenital ichthyosis, MONDO:0014011, OMIM:615024.0
DDG2P v6.17 PLXND1 Achchuthan Shanmugasundram edited their review of gene: PLXND1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PLXND1-related Moebius syndrome are limited, monoallelic_autosomal and undetermined (PMID:26068067). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00327. The DDG2P confidence category, allelic requirement and molecular mechanism for PLXND1-related cardiac malformation syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 24254849, 35396997). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01509.; Changed phenotypes to: PLXND1-related Moebius syndrome, OMIM:157900.0, MONDO:0008006, PLXND1-related cardiac malformation syndrome, MOEBIUS SYNDROME, OMIM:620294.0, MONDO:0859532
DDG2P v6.17 PLCB4 Achchuthan Shanmugasundram edited their review of gene: PLCB4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PLCB4-related auriculocondylar syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 22560091, 23315542, 28328130, 35170830). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00070.; Changed publications to: 23315542, 35170830, 28328130, 22560091; Changed phenotypes to: AURICULOCONDYLAR SYNDROME, OMIM:602483, PLCB4-related auriculocondylar syndrome, MONDO:0013845, OMIM:614669.0
DDG2P v6.17 PIK3R1 Achchuthan Shanmugasundram edited their review of gene: PIK3R1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIK3R1-related SHORT syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 23810378, 23810379, 28472977). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00179. The DDG2P confidence category, allelic requirement and molecular mechanism for PIK3R1-related agammaglobulinemia are limited, biallelic_autosomal and loss of function (PMID:22351933). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00858.; Changed publications to: 23810378, 22351933, 28472977, 23810379; Changed phenotypes to: SHORT SYNDROME, OMIM:269880, MONDO:0010026, MONDO:0014083, OMIM:615214.0, OMIM:269880.0, PIK3R1-related SHORT syndrome, AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OMIM:615214, PIK3R1-related agammaglobulinemia; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PIGV Achchuthan Shanmugasundram edited their review of gene: PIGV: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGV-related hyperphosphatasia with intellectual developmental disorder are definitive, biallelic_autosomal and loss of function (PMIDs: 17351347, 20802478, 22228761, 33402532, 40799153). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00078.; Changed publications to: 17351347, 33402532, 20802478, 40799153, 22228761; Changed phenotypes to: OMIM:239300.0, HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:239300, PIGV-related hyperphosphatasia with intellectual developmental disorder, MONDO:0009398
DDG2P v6.17 PIGT Achchuthan Shanmugasundram edited their review of gene: PIGT: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGT-related multiple congenital anomalies-hypotonia-seizures syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 23636107, 24906948). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01110.; Changed publications to: 24906948, 23636107; Changed phenotypes to: PIGT-related multiple congenital anomalies-hypotonia-seizures syndrome, MONDO:0014165, OMIM:615398.0, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OMIM:615398
DDG2P v6.17 PIGN Achchuthan Shanmugasundram edited their review of gene: PIGN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome are definitive, biallelic_autosomal and loss of function (PMIDs: 21493957, 24253414, 24852103, 26364997, 26394714, 26419326, 27038415, 27300081, 29096607, 29330547, 32585529, 33193741, 33966742, 34051595, 35468813, 35812661, 36322149, 36363484). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01414.; Changed publications to: 29096607, 34051595, 35812661, 27038415, 24253414, 26419326, 26394714, 27300081, 24852103, 35468813, 33966742, 26364997, 36363484, 29330547, 36322149, 21493957, 32585529, 33193741; Changed phenotypes to: PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, MONDO:0013563, OMIM:614080.0, PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080
DDG2P v6.17 PHF5A Achchuthan Shanmugasundram edited their review of gene: PHF5A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PHF5A-related neurodevelopmental disorder with congenital malformations are moderate, monoallelic_autosomal and undetermined (PMIDs: 33811463, 37422718). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03487.; Changed phenotypes to: PHF5A-related neurodevelopmental disorder with congenital malformations, MONDO:0100038
DDG2P v6.17 PGAP2 Achchuthan Shanmugasundram edited their review of gene: PGAP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PGAP2-related intellectual disability are definitive, biallelic_autosomal and undetermined (PMIDs: 23561846, 23561847, 29119105). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00290.; Changed publications to: 23561847, 23561846, 29119105; Changed phenotypes to: OMIM:614207.0, PGAP2-related intellectual disability, INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0013628
DDG2P v6.17 PACS2 Achchuthan Shanmugasundram edited their review of gene: PACS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PACS2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 28867141, 30290155). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02368.; Changed publications to: 30290155, 28867141; Changed phenotypes to: Unspecified Neurodevelopmental Disorder, PACS2-related neurodevelopmental disorder, OMIM:618067.0, MONDO:0054845
DDG2P v6.17 OTUD5 Achchuthan Shanmugasundram edited their review of gene: OTUD5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for OTUD5-related neurodevelopmental disorder are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 33131077, 33523931, 33748114). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03438.; Changed publications to: 33523931, 33748114, 33131077; Changed phenotypes to: OTUD5-related neurodevelopmental disorder, OMIM:301056.0, MONDO:0025351, OTUD5-associated neurodevelopmental disorder
DDG2P v6.17 OGDH Achchuthan Shanmugasundram edited their review of gene: OGDH: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for OGDH-related neurodevelopmental disorder are moderate, biallelic_autosomal and undetermined (PMIDs: 32383294, 36520152). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03200.; Changed publications to: 32383294, 36520152; Changed phenotypes to: MONDO:0008759, OGDH-related neurodevelopmental disorder, OMIM:203740.0
DDG2P v6.17 NSUN2 Achchuthan Shanmugasundram edited their review of gene: NSUN2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NSUN2-related intellectual disability are strong, biallelic_autosomal and undetermined (PMIDs: 21063731, 22541559, 22541562, 22577224). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00298.; Changed publications to: 21063731, 22541562, 22541559, 22577224; Changed phenotypes to: NSUN2-related intellectual disability, MONDO:0012613, AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5, OMIM:611091, OMIM:611091.0
DDG2P v6.17 NSMCE3 Achchuthan Shanmugasundram edited their review of gene: NSMCE3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NSMCE3-related distinct DNA breakage syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 27427983, 33741030, 40728043). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01140.; Changed publications to: 40728043, 33741030, 27427983; Changed phenotypes to: NSMCE3-related distinct DNA breakage syndrome, DISTINCT DNA BREAKAGE SYNDROME
DDG2P v6.17 NRXN2 Achchuthan Shanmugasundram edited their review of gene: NRXN2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NRXN2-related autism are limited, monoallelic_autosomal and loss of function (PMIDs: 21424692, 36923655, 38739110). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00534.; Changed publications to: 38739110, 21424692, 36923655; Changed phenotypes to: AUTISM, OMIM:209850, OMIM:209850.0, NRXN2-related autism, MONDO:0005260
DDG2P v6.17 NOVA2 Achchuthan Shanmugasundram edited their review of gene: NOVA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NOVA2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 32197073, 35607920). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02446.; Changed phenotypes to: Intellectual disability with ataxia/spasticity, NOVA2-related neurodevelopmental disorder, OMIM:618859.0, MONDO:0030024, NOVA2-associated neurodevelopmental disorder
DDG2P v6.17 NHP2 Achchuthan Shanmugasundram edited their review of gene: NHP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NHP2-related dyskeratosis congenita are moderate, biallelic_autosomal and loss of function (PMIDs: 18523010, 30472699, 31985013, 37440454). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01207.; Changed publications to: 31985013, 18523010, 37440454, 30472699; Changed phenotypes to: NHP2-related dyskeratosis congenita, NHP2-related dyskeratosis congenita, OMIM:613987, MONDO:0009136, OMIM:613987.0
DDG2P v6.17 NFU1 Achchuthan Shanmugasundram edited their review of gene: NFU1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NFU1-related multiple mitochondrial dysfunctions syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 11156534, 22077971). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00303.; Changed publications to: 22077971, 11156534; Changed phenotypes to: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, OMIM:605711, MONDO:0011582, NFU1-related multiple mitochondrial dysfunctions syndrome, OMIM:605711.0
DDG2P v6.17 NEDD4L Achchuthan Shanmugasundram edited their review of gene: NEDD4L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NEDD4L-related periventricular nodular heterotopia with intellectual disability, cleft palate, and 2-3 toe syndactyly are strong, monoallelic_autosomal and undetermined (PMIDs: 23934111, 27694961, 28515470). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00563.; Changed publications to: 23934111, 27694961, 28515470; Changed phenotypes to: NEDD4L-related periventricular nodular heterotopia with intellectual disability, cleft palate, and 2-3 toe syndactyly, OMIM:617201.0, MONDO:0014966, Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly
DDG2P v6.17 NDUFV2 Achchuthan Shanmugasundram edited their review of gene: NDUFV2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFV2-related mitochondrial complex I deficiency, nuclear are moderate, biallelic_autosomal and undetermined (PMIDs: 12754703, 26008862, 33811136, 34405929). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03314.; Changed publications to: 12754703, 33811136, 26008862, 34405929; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229, MONDO:0032612, NDUFV2-related mitochondrial complex I deficiency, nuclear, OMIM:618229.0
DDG2P v6.17 NDUFV1 Achchuthan Shanmugasundram edited their review of gene: NDUFV1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFV1-related mitochondrial complex I deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 10080174, 11349233, 35482246, 38626668, 39525154, 40207266). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00512.; Changed publications to: 39525154, 11349233, 40207266, 35482246, 10080174, 38626668; Changed phenotypes to: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010, NDUFV1-related mitochondrial complex I deficiency, OMIM:618225.0, MONDO:0032609
DDG2P v6.17 NDUFS8 Achchuthan Shanmugasundram edited their review of gene: NDUFS8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFS8-related mitochondrial respiratory chain complex I deficiency are definitive, biallelic_autosomal and loss of function (PMIDs: 15159508, 22499348, 36101822, 38229652, 9837812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00224.; Changed publications to: 15159508, 22499348, 38229652, 36101822, 9837812; Changed phenotypes to: MONDO:0032606, NDUFS8-related mitochondrial respiratory chain complex I deficiency, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010, OMIM:618222.0
DDG2P v6.17 NDUFA9 Achchuthan Shanmugasundram edited their review of gene: NDUFA9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFA9-related Leigh syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 22114105, 28671271, 28853723). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01698.; Changed publications to: 22114105, 28671271, 28853723; Changed phenotypes to: NDUFA9-related Leigh syndrome, LEIGH SYNDROME, OMIM:256000, OMIM:256000.0, MONDO:0009723
DDG2P v6.17 NDUFA10 Achchuthan Shanmugasundram edited their review of gene: NDUFA10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFA10-related Leigh syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 21150889, 26741492, 28247337, 36270260). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01697.; Changed publications to: 28247337, 36270260, 21150889, 26741492; Changed phenotypes to: OMIM:618243.0, NDUFA10-related Leigh syndrome, LEIGH SYNDROME DUP, OMIM:256000, MONDO:0032626
DDG2P v6.17 NDST1 Achchuthan Shanmugasundram edited their review of gene: NDST1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDST1-related intellectual disability with or without seizures are moderate, biallelic_autosomal and undetermined (PMIDs: 21937992, 25125150, 27620904, 28211985, 28600779, 31164858, 32878022, 38129107). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00677.; Changed publications to: 31164858, 28211985, 32878022, 28600779, 21937992, 38129107, 25125150, 27620904; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, NDST1-related intellectual disability with or without seizures
DDG2P v6.17 NAA20 Achchuthan Shanmugasundram edited their review of gene: NAA20: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NAA20-related developmental delay and microcephaly are limited, biallelic_autosomal and undetermined (PMIDs: 34230638, 37191084). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03179.; Changed publications to: 34230638, 37191084; Changed phenotypes to: NAA20-related developmental delay and microcephaly, MONDO:0030533, OMIM:619717.0, NAA20-associated developmental delay and microcephaly
DDG2P v6.17 MYH9 Achchuthan Shanmugasundram edited their review of gene: MYH9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss are definitive, monoallelic_autosomal and loss of function (PMIDs: 10973259, 25077172). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01498.; Changed publications to: 10973259, 25077172; Changed phenotypes to: MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100, MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100.0, MONDO:0015912
DDG2P v6.17 MYH6 Achchuthan Shanmugasundram edited their review of gene: MYH6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYH6-related atrial septal defect are limited, monoallelic_autosomal and loss of function (PMIDs: 15735645, 20656787, 29505555, 29536580, 29969989, 31638415, 34481090). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00379.; Changed publications to: 15735645, 31638415, 29505555, 29536580, 34481090, 20656787, 29969989; Changed phenotypes to: ATRIAL SEPTAL DEFECT TYPE 3, OMIM:614089, MYH6-related atrial septal defect, OMIM:614089.0, MONDO:0013567
DDG2P v6.17 MYH3 Achchuthan Shanmugasundram edited their review of gene: MYH3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYH3-related distal arthrogryposis are definitive, monoallelic_autosomal and undetermined (PMIDs: 16642020, 18695058). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01341. The DDG2P confidence category, allelic requirement and molecular mechanism for MYH3-related spondylocarpotarsal synostosis syndrome are strong, biallelic_autosomal and loss of function (PMID:29805041). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02609.; Changed phenotypes to: OMIM:618469.0, MONDO:0020746, OMIM:193700.0, DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700, MYH3-related spondylocarpotarsal synostosis syndrome, Recessive Spondylocarpotarsal Synostosis Syndrome, MYH3-related distal arthrogryposis
DDG2P v6.17 MYH10 Achchuthan Shanmugasundram edited their review of gene: MYH10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYH10-related multiple congenital anomalies are moderate, monoallelic_autosomal and dominant negative (PMIDs: 25003005, 25356899, 35980381). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01930.; Changed mode of pathogenicity: Other; Changed publications to: 35980381, 25356899, 25003005; Changed phenotypes to: MYH10-related Multiple congenital anomalies, MYH10-related multiple congenital anomalies, MONDO:0700281
DDG2P v6.17 MTOR Achchuthan Shanmugasundram edited their review of gene: MTOR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MTOR-related Smith-Kingsmore syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 23934111, 28892148). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01220.; Changed phenotypes to: MTOR-related Smith-Kingsmore syndrome, OMIM:616638.0, MONDO:0014716, Smith-Kingsmore syndrome, OMIM:616638
DDG2P v6.17 MPZ Achchuthan Shanmugasundram edited their review of gene: MPZ: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MPZ-related neuropathy, congenital hypomyelinating are definitive, monoallelic_autosomal and undetermined (PMIDs: 12953275, 15184631, 26310628, 8816708). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02972.; Changed publications to: 26310628, 15184631, 8816708, 12953275; Changed phenotypes to: OMIM:618184.0, MONDO:0020765, NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184, MPZ-related neuropathy, congenital hypomyelinating
DDG2P v6.17 MORC2 Achchuthan Shanmugasundram edited their review of gene: MORC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MORC2-related axonal neuropathy and neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 26497905, 26659848, 26912637, 27105897, 27329773, 27794525, 28334961, 28402445, 28771897, 30624633, 32693025, 33762496, 33844363, 34059105, 34189813, 34630290, 34664855, 35332768, 35904125). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01894.; Changed publications to: 33762496, 28771897, 26912637, 27105897, 28334961, 34664855, 28402445, 34189813, 27794525, 30624633, 35332768, 35904125, 26497905, 34059105, 26659848, 34630290, 27329773, 32693025, 33844363; Changed phenotypes to: MORC2 - axonal neuropathy and neurodevelopmental disorder, OMIM:619090.0, MORC2-related axonal neuropathy and neurodevelopmental disorder, MONDO:0030835
DDG2P v6.17 MOGS Achchuthan Shanmugasundram edited their review of gene: MOGS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MOGS-related congenital disorder of glycosylation are strong, biallelic_autosomal and undetermined (PMIDs: 10788335, 24716661, 35790351). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00017.; Changed publications to: 10788335, 35790351, 24716661; Changed phenotypes to: MOGS-related congenital disorder of glycosylation, OMIM:606056.0, CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379, MONDO:0011629
DDG2P v6.17 MMP13 Achchuthan Shanmugasundram edited their review of gene: MMP13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MMP13-related spondyloepimetaphyseal dysplasia, Missouri type are definitive, monoallelic_autosomal and undetermined (PMIDs: 19615667, 8412645). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00762. The DDG2P confidence category, allelic requirement and molecular mechanism for MMP13-related metaphyseal anadysplasia are definitive, biallelic_autosomal and undetermined (PMIDs: 19615667, 8412645). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01239.; Changed publications to: 19615667, 8412645; Changed phenotypes to: MMP13-related metaphyseal anadysplasia, METAPHYSEAL ANADYSPLASIA TYPE 1, OMIM:602111, OMIM:250400.0, MONDO:0009597, SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE, OMIM:602111, OMIM:602111.0, MMP13-related spondyloepimetaphyseal dysplasia, Missouri type, MONDO:0011198
DDG2P v6.17 MIR184 Achchuthan Shanmugasundram edited their review of gene: MIR184: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MIR184-related keratoconus with cataract (EDICT syndrome) are definitive, monoallelic_autosomal and undetermined (PMIDs: 21996275, 23833072, 24138095, 25373792, 27195078). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01111.; Changed rating: GREEN; Changed publications to: 27195078, 21996275, 25373792, 24138095, 23833072; Changed phenotypes to: MONDO:0013678, KERATOCONUS WITH CATARACT, EDICT SYNDROME, OMIM:614303, OMIM:614303.0, MIR184-related keratoconus with cataract (EDICT syndrome)
DDG2P v6.17 MED25 Achchuthan Shanmugasundram edited their review of gene: MED25: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED25-related Basel-Vanagaite-Smirin-Yosef syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 25527630, 25792360, 31602195, 32324310). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02957.; Changed publications to: 25792360, 25527630, 31602195, 32324310; Changed phenotypes to: MONDO:0014643, MED25-related Basel-Vanagaite-Smirin-Yosef syndrome, Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449, OMIM:616449.0
DDG2P v6.17 MED23 Achchuthan Shanmugasundram edited their review of gene: MED23: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED23-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMIDs: 21868677, 25845469, 30847200, 31164858). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00707.; Changed publications to: 31164858, 25845469, 30847200, 21868677; Changed phenotypes to: MED23-related intellectual developmental disorder, MONDO:0013651, INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 18, OMIM:614249, OMIM:614249.0
DDG2P v6.17 MED12 Achchuthan Shanmugasundram edited their review of gene: MED12: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED12-related Opitz-Kaveggia syndrome are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 17334363, 18973276, 20507344, 24039113, 26273451, 27081531, 27286923, 27312080). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00747. The DDG2P confidence category, allelic requirement and molecular mechanism for MED12-related Lujan-Fryns syndrome are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 17369503, 24123922, 24715367, 27286923, 27312080, 27500536, 27980443, 28544239, 30006928, 31536828, 6711603). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00913. The DDG2P confidence category, allelic requirement and molecular mechanism for MED12-related developmental disorder are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 33244165, 33244166, 35385210). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03071.; Changed publications to: 17369503, 35385210, 27980443, 18973276, 20507344, 27286923, 24039113, 30006928, 6711603, 27312080, 33244166, 27500536, 24715367, 24123922, 28544239, 33244165, 27081531, 17334363, 31536828, 26273451; Changed phenotypes to: OMIM:305450.0, LUJAN-FRYNS SYNDROME, OMIM:309520, OMIM:309520.0, OPITZ-KAVEGGIA SYNDROME, OMIM:305450, MED12-related Lujan-Fryns syndrome, MONDO:0700092, MED12-related developmental disorder, MED12-related Opitz-Kaveggia syndrome
DDG2P v6.17 MATN3 Achchuthan Shanmugasundram edited their review of gene: MATN3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MATN3-related multiple epiphyseal dysplasia are definitive, monoallelic_autosomal and undetermined (PMIDs: 11479597, 13849708, 14729835, 15948199). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00889.; Changed publications to: 15948199, 11479597, 13849708, 14729835; Changed phenotypes to: MATN3-related multiple epiphyseal dysplasia, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5, OMIM:607078, MONDO:0011765, OMIM:607078.0
DDG2P v6.17 MAST1 Achchuthan Shanmugasundram edited their review of gene: MAST1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAST1-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 30449657, 33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02878.; Changed publications to: 33057194, 30449657; Changed phenotypes to: MAST1-related developmental disorder (monoallelic), MONDO:0032648, OMIM:618273.0, MAST1-related developmental disorder
DDG2P v6.17 MAP4K4 Achchuthan Shanmugasundram edited their review of gene: MAP4K4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAP4K4-related neurodevelopmental disorder with or without congenital anomalies are moderate, monoallelic_autosomal and loss of function (PMIDs: 28518170, 36469137, 37126546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03550. The DDG2P confidence category, allelic requirement and molecular mechanism for MAP4K4-related neurodevelopmental disorder with or without congenital anomalies are moderate, monoallelic_autosomal and dominant negative (PMID:37126546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03716.; Changed publications to: 28518170, 36469137, 37126546; Changed phenotypes to: MAP4K4-related neurodevelopmental disorder with/without congenital anomalies, MONDO:0100038, MAP4K4-related neurodevelopmental disorder with or without congenital anomalies
DDG2P v6.17 MAP3K7 Achchuthan Shanmugasundram edited their review of gene: MAP3K7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAP3K7-related frontometaphyseal dysplasia are strong, monoallelic_autosomal and undetermined (PMIDs: 27426733, 27426734). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01776.; Changed publications to: 27426734, 27426733; Changed phenotypes to: MONDO:0014935, OMIM:617137.0, FRONTOMETAPHYSEAL DYSPLASIA, OMIM:617137, MAP3K7-related frontometaphyseal dysplasia
DDG2P v6.17 MAN1B1 Achchuthan Shanmugasundram edited their review of gene: MAN1B1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAN1B1-related intellectual developmental disorder are definitive, biallelic_autosomal and undetermined (PMIDs: 21763484, 21937992, 24348268, 24566669, 26279649, 26577042). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01138.; Changed publications to: 26279649, 26577042, 24348268, 21937992, 21763484, 24566669; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0013624, MAN1B1-related intellectual developmental disorder, OMIM:614202.0
DDG2P v6.17 MAF Achchuthan Shanmugasundram edited their review of gene: MAF: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAF-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 11772997, 16470690, 24664492, 29314435, 30659945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01427. The DDG2P confidence category, allelic requirement and molecular mechanism for MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation are definitive, monoallelic_autosomal and undetermined (PMID:25865493). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01853.; Changed publications to: 24664492, 25865493, 29314435, 11772997, 16470690, 30659945; Changed phenotypes to: MAF-related cataract, MONDO:0012437, OMIM:610202.0, MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088.0, MONDO:0010992, MAF-related cataract, OMIM:610202, MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088
DDG2P v6.17 LZTR1 Achchuthan Shanmugasundram edited their review of gene: LZTR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LZTR1-related Noonan syndrome (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 29469822, 29959388, 30368668, 31182298, 37936555, 38135892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02571. The DDG2P confidence category, allelic requirement and molecular mechanism for LZTR1-related Noonan syndrome (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 25795793, 30368668, 30664951, 30859559, 31533111, 31825158, 33407364, 35656879, 35840934, 36304179). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02988.; Changed publications to: 38135892, 33407364, 30859559, 35840934, 29959388, 29469822, 35656879, 37936555, 31182298, 36304179, 30368668, 31825158, 25795793, 30664951, 31533111; Changed phenotypes to: MONDO:0014693, NOONAN SYNDROME 10, OMIM:616564, LZTR1-related Noonan syndrome (monoallelic), LZTR1-related Noonan syndrome (biallelic), Noonan syndrome, OMIM:616564.0
DDG2P v6.17 LONP1 Achchuthan Shanmugasundram edited their review of gene: LONP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LONP1-related CODAS syndrome are strong, biallelic_autosomal and loss of function (PMIDs: 25574826, 25808063, 28148925, 29408517, 30997404, 31169704, 36684615, 36685982). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01139. The DDG2P confidence category, allelic requirement and molecular mechanism for LONP1-related congenital diaphragmatic hernia are limited, monoallelic_autosomal and loss of function (PMID:34547244). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03209.; Changed publications to: 29408517, 28148925, 30997404, 31169704, 36684615, 36685982, 25574826, 25808063, 34547244; Changed phenotypes to: MONDO:0010879, OMIM:600373.0, LONP1-associated congenital diaphragmatic hernia, MONDO:0005711, CODAS SYNDROME, OMIM:600373, LONP1-related CODAS syndrome, LONP1-related congenital diaphragmatic hernia
DDG2P v6.17 LMNB1 Achchuthan Shanmugasundram edited their review of gene: LMNB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LMNB1-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 32910914, 33033404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03049.; Changed publications to: 33033404, 32910914; Changed phenotypes to: MONDO:0030928, OMIM:619179.0, LMNB1-associated developmental disorder, LMNB1-related developmental disorder
DDG2P v6.17 LIPT1 Achchuthan Shanmugasundram edited their review of gene: LIPT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LIPT1-related Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase are strong, biallelic_autosomal and undetermined (PMIDs: 24256811, 24341803, 27247813). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02224.; Changed publications to: 24256811, 27247813, 24341803; Changed phenotypes to: MONDO:0014576, LIPT1-related Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase, OMIM:616299.0, Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
DDG2P v6.17 LIAS Achchuthan Shanmugasundram edited their review of gene: LIAS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LIAS-related neonatal-onset epilepsy, defective mitochondrial energy metabolism and glycine elevation are strong, biallelic_autosomal and undetermined (PMIDs: 22152680, 26108146). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02223.; Changed phenotypes to: OMIM:614462.0, MONDO:0013762, Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation, LIAS-related neonatal-onset epilepsy, defective mitochondrial energy metabolism and glycine elevation
DDG2P v6.17 LFNG Achchuthan Shanmugasundram edited their review of gene: LFNG: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LFNG-related spondylocostal dysostosis are definitive, biallelic_autosomal and undetermined (PMIDs: 16385447, 22822384, 30531807, 37038048, 38565611). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01136.; Changed publications to: 30531807, 22822384, 37038048, 38565611, 16385447; Changed phenotypes to: LFNG-related spondylocostal dysostosis, MONDO:0012349, SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813, OMIM:609813.0
DDG2P v6.17 LEMD2 Achchuthan Shanmugasundram edited their review of gene: LEMD2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LEMD2-related early progeroid syndrome are moderate, monoallelic_autosomal and undetermined (PMIDs: 30905398, 37867468, 38757373). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02782.; Changed publications to: 37867468, 38757373, 30905398; Changed phenotypes to: Nuclear Envelopathy with Early Progeroid Appearance, LEMD2-related early progeroid syndrome, OMIM:619322.0, MONDO:0859147
DDG2P v6.17 LDB3 Achchuthan Shanmugasundram edited their review of gene: LDB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LDB3-related myopathy myofibrillar are limited, monoallelic_autosomal and undetermined (PMIDs: 15668942, 17337483). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00544.; Changed publications to: 15668942, 17337483; Changed phenotypes to: OMIM:609452.0, MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452, MONDO:0012277, LDB3-related myopathy myofibrillar
DDG2P v6.17 LAS1L Achchuthan Shanmugasundram edited their review of gene: LAS1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LAS1L-related intellectual disability are limited, monoallelic_X_hemizygous and undetermined (PMIDs: 25644381, 34653234). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02010.; Changed phenotypes to: LAS1L-related intellectual disability, OMIM:309585.0, INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v6.17 KRT74 Achchuthan Shanmugasundram edited their review of gene: KRT74: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KRT74-related hypotrichosis and/or woolly hair are moderate, monoallelic_autosomal and undetermined (PMIDs: 20346438, 21188418, 24714551). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00610.; Changed publications to: 24714551, 20346438, 21188418; Changed phenotypes to: HYPOTRICHOSIS SIMPLEX OF THE SCALP 2, OMIM:613981, OMIM:613981.0, KRT74-related hypotrichosis and/or woolly hair, MONDO:0013514
DDG2P v6.17 KLHL7 Achchuthan Shanmugasundram edited their review of gene: KLHL7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) are strong, biallelic_autosomal and loss of function (PMIDs: 27392078, 29074562, 30142437, 30300710, 30997404, 31953236, 35670385, 35699517, 37076692, 38333279). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02566.; Changed publications to: 35670385, 27392078, 31953236, 35699517, 30142437, 29074562, 38333279, 30300710, 30997404, 37076692; Changed phenotypes to: MONDO:0014890, Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa, Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa), OMIM:617055.0, KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures)
DDG2P v6.17 KIF5B Achchuthan Shanmugasundram commented on gene: KIF5B: The DDG2P confidence category, allelic requirement and molecular mechanism for KIF5B-related disease are moderate, monoallelic_autosomal and undetermined (PMIDs: 35342932, 36018820). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03463.
DDG2P v6.17 KDM1A Achchuthan Shanmugasundram edited their review of gene: KDM1A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KDM1A-related developmental delay and distinctive facial features are strong, monoallelic_autosomal and undetermined (PMIDs: 26656649, 29559475). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02308.; Changed publications to: 26656649, 29559475; Changed phenotypes to: MONDO:0014751, OMIM:616728.0, Developmental delay and distinctive facial features, KDM1A-related developmental delay and distinctive facial features
DDG2P v6.17 KCTD1 Achchuthan Shanmugasundram edited their review of gene: KCTD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCTD1-related scalp-ear-nipple syndrome are limited, monoallelic_autosomal and gain of function (PMIDs: 23541344, 33000225, 34456244). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00769.; Changed rating: RED; Changed publications to: 23541344, 33000225, 34456244; Changed phenotypes to: KCTD1-related scalp-ear-nipple syndrome, SCALP-EAR-NIPPLE SYNDROME, OMIM:181270, OMIM:181270.0, MONDO:0008404
DDG2P v6.17 KCNT1 Achchuthan Shanmugasundram edited their review of gene: KCNT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNT1-related malignant migrating partial seizures of infancy are definitive, monoallelic_autosomal and gain of function (PMIDs: 23086396, 23086397, 23278465, 24029078, 24120652, 25120433, 26122718, 26140313, 26740507, 26748457, 27081515, 28081520, 28366665, 28987752, 29037447, 29196578, 29291456, 29870100, 30112700, 30525185, 30782581, 30804880, 30847371, 30903923, 31388363, 31560846, 31872048, 31926846, 32883383, 33650128, 34147500, 34567798, 36279596, 36297665, 36746065). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00887. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNT1-related epilepsy are definitive, monoallelic_autosomal and undetermined (PMIDs: 23086396, 23086397). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00927.; Changed publications to: 30525185, 30782581, 30847371, 28987752, 34567798, 31560846, 23278465, 26122718, 24029078, 23086397, 26740507, 29870100, 31926846, 36746065, 26140313, 30903923, 36279596, 34147500, 28366665, 27081515, 28081520, 29037447, 30804880, 23086396, 36297665, 33650128, 25120433, 29291456, 24120652, 29196578, 32883383, 30112700, 31872048, 26748457, 31388363; Changed phenotypes to: OMIM:614959.0, MONDO:0017385, KCNT1-related epilepsy, MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY, SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959, MONDO:0013989, KCNT1-related malignant migrating partial seizures of infancy
DDG2P v6.17 KCNMA1 Achchuthan Shanmugasundram edited their review of gene: KCNMA1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNMA1-related generalized epilepsy and paroxysmal dyskinesia are definitive, monoallelic_autosomal and gain of function (PMIDs: 15937479, 26195193, 28728269, 29330545, 31152168, 31427379, 32132200, 32633875, 33043086, 33178487, 34224328, 34499417, 34563042, 34674900, 35095492, 35141357, 35156297, 35730691, 36127141, 36252966). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00511. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNMA1-related developmental delay, seizures and cerebellar atrophy are strong, biallelic_autosomal and loss of function (PMIDs: 27567911, 29545233, 31152168). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03175.; Changed publications to: 31152168, 15937479, 34563042, 36252966, 34499417, 35095492, 32132200, 33043086, 35156297, 35141357, 32633875, 34224328, 26195193, 34674900, 29545233, 33178487, 28728269, 35730691, 29330545, 31427379, 36127141, 27567911; Changed phenotypes to: KCNMA1-related developmental delay, seizures and cerebellar atrophy, OMIM:609446.0, MONDO:0060551, OMIM:617643.0, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, OMIM:609446, MONDO:0012276, KCNMA1-related generalized epilepsy and paroxysmal dyskinesia
DDG2P v6.17 KCNK3 Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNK3-related developmental delay with sleep apnea are strong, monoallelic_autosomal and undetermined (PMIDs: 33057194, 36195757). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02892.; Changed phenotypes to: KCNK3-related developmental disorder (monoallelic), KCNK3-associated developmental delay with sleep apnea, KCNK3-related developmental delay with sleep apnea, MONDO:0700360
DDG2P v6.17 KCNJ6 Achchuthan Shanmugasundram edited their review of gene: KCNJ6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNJ6-related Keppen-Lubinsky syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 25620207, 36071510). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00759.; Changed publications to: 36071510, 25620207; Changed phenotypes to: OMIM:614098.0, KEPPEN-LUBINSKY SYNDROME, OMIM:614098, KCNJ6-related Keppen-Lubinsky syndrome, MONDO:0013572
DDG2P v6.17 KCNH5 Achchuthan Shanmugasundram edited their review of gene: KCNH5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNH5-related epilepsy and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 23647072, 36307226). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00923.; Changed publications to: 23647072, 36307226; Changed phenotypes to: KCNH5-related epilepsy and epileptic encephalopathy, MONDO:0957812, OMIM:620537.0
DDG2P v6.17 KCNE1 Achchuthan Shanmugasundram edited their review of gene: KCNE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNE1-related Jervell and Lange-Nielsen syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 10973849, 16461811, 19716085, 30461122, 31941373, 9328483, 9354783, 9445165). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00124. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNE1-related long QT syndrome are limited, monoallelic_autosomal and undetermined (PMIDs: 10973849, 31941373, 9354802). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00931.; Changed publications to: 30461122, 19716085, 9354802, 10973849, 9354783, 9328483, 31941373, 16461811, 9445165; Changed phenotypes to: LONG QT SYNDROME-5, OMIM:613695, KCNE1-related long QT syndrome, OMIM:612347.0, MONDO:0013372, JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347, MONDO:0012871, KCNE1-related Jervell and Lange-Nielsen syndrome, OMIM:613695.0
DDG2P v6.17 KCND2 Achchuthan Shanmugasundram edited their review of gene: KCND2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCND2-related neurodevelopmental disorder with or without seizures are moderate, monoallelic_autosomal and undetermined (PMIDs: 24501278, 34245260). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03544.; Changed publications to: 24501278, 34245260; Changed phenotypes to: MONDO:1040003, KCND2-related neurodevelopmental disorder with or without seizures
DDG2P v6.17 KCNC3 Achchuthan Shanmugasundram edited their review of gene: KCNC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNC3-related spinocerebellar ataxia are strong, monoallelic_autosomal and undetermined (PMIDs: 16501573, 25497598, 25981959, 37365508). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00208.; Changed publications to: 16501573, 25497598, 25981959, 37365508; Changed phenotypes to: SPINOCEREBELLAR ATAXIA TYPE 13, OMIM:605259, OMIM:605259.0, MONDO:0011529, KCNC3-related spinocerebellar ataxia
DDG2P v6.17 KCNA1 Achchuthan Shanmugasundram edited their review of gene: KCNA1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNA1-related epileptic encephalopathy are limited, biallelic_autosomal and undetermined (PMID:31586945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03173. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNA1-related epileptic encephalopathy are limited, monoallelic_autosomal and undetermined (PMIDs: 19205071, 30055040, 32705822, 33355533, 34778950, 36793218). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03174.; Changed publications to: 34778950, 30055040, 19205071, 33355533, 36793218, 31586945, 32705822; Changed phenotypes to: KCNA1-related epileptic encephalopathy, monoallelic, MONDO:0100062, KCNA1-related epileptic encephalopathy, KCNA1-related epileptic encephalopathy, biallelic
DDG2P v6.17 KBTBD13 Achchuthan Shanmugasundram edited their review of gene: KBTBD13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KBTBD13-related nemaline myopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 12805120, 21104864, 21109227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00067.; Changed publications to: 21104864, 12805120, 21109227; Changed phenotypes to: OMIM:609273.0, KBTBD13-related nemaline myopathy, NEMALINE MYOPATHY 6, OMIM:609273, MONDO:0012237
DDG2P v6.17 IRX5 Achchuthan Shanmugasundram edited their review of gene: IRX5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IRX5-related hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility are strong, biallelic_autosomal and undetermined (PMIDs: 22581230, 34899143). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00994.; Changed publications to: 34899143, 22581230; Changed phenotypes to: HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND BONE FRAGILITY, OMIM:611174, OMIM:611174.0, IRX5-related hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility
DDG2P v6.17 IQSEC2 Achchuthan Shanmugasundram edited their review of gene: IQSEC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IQSEC2-related intellectual developmental disorder are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 20473311, 21686261, 23674175, 24306141, 26733290, 26793055, 27665735, 28295038, 28815955, 29026562, 30206421, 30666632, 30842726, 31415821, 31439632, 31490346, 31829726, 32529990, 32564198, 32761587, 33494955, 34484768, 35347702, 35446980, 36012761, 36267700, 36444437, 36684544, 37761403). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00063.; Changed publications to: 33494955, 28815955, 36684544, 30842726, 30666632, 26733290, 34484768, 26793055, 31490346, 30206421, 23674175, 28295038, 32529990, 37761403, 32761587, 36444437, 31415821, 24306141, 27665735, 20473311, 29026562, 31439632, 31829726, 35446980, 21686261, 36012761, 35347702, 32564198, 36267700; Changed phenotypes to: MONDO:0010656, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 1, OMIM:309530, OMIM:309530.0, IQSEC2-related intellectual developmental disorder
DDG2P v6.17 INTS11 Achchuthan Shanmugasundram edited their review of gene: INTS11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities are moderate, biallelic_autosomal and loss of function (PMIDs: 37054711, 37980560). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03549.; Changed phenotypes to: MONDO:0957386, INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428, INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428.0
DDG2P v6.17 INPP5K Achchuthan Shanmugasundram edited their review of gene: INPP5K: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for INPP5K-related muscular dystrophy, congenital, with cataracts, and intellectual disability are strong, biallelic_autosomal and undetermined (PMIDs: 28190456, 28190459, 28940338). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01962.; Changed publications to: 28940338, 28190456, 28190459; Changed phenotypes to: INPP5K-related muscular dystrophy, congenital, with cataracts, and intellectual disability, Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404, OMIM:617404.0, MONDO:0024607
DDG2P v6.17 INPP4A Achchuthan Shanmugasundram edited their review of gene: INPP4A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for INPP4A-related neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia are moderate, biallelic_autosomal and loss of function (PMIDs: 21937992, 25338135, 31978615, 36653678, 36759255, 39315527). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01556.; Changed rating: GREEN; Changed publications to: 39315527, 36653678, 21937992, 25338135, 36759255, 31978615; Changed phenotypes to: MONDO:0100038, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, INPP4A-related neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia
DDG2P v6.17 IHH Achchuthan Shanmugasundram edited their review of gene: IHH: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IHH-related brachydactyly are definitive, monoallelic_autosomal and undetermined (PMIDs: 11455389, 12384778, 12525541, 16871364, 18629882, 19277064). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00942. The DDG2P confidence category, allelic requirement and molecular mechanism for IHH-related acrocapitofemoral dysplasia are definitive, biallelic_autosomal and undetermined (PMID:12632327). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01359.; Changed publications to: 11455389, 12632327, 16871364, 12525541, 18629882, 12384778, 19277064; Changed phenotypes to: MONDO:0011907, MONDO:0007215, BRACHYDACTYLY, TYPE A1, OMIM:112500, ACROCAPITOFEMORAL DYSPLASIA, OMIM:607778, OMIM:607778.0, OMIM:112500.0, IHH-related brachydactyly, IHH-related acrocapitofemoral dysplasia
DDG2P v6.17 IFT122 Achchuthan Shanmugasundram edited their review of gene: IFT122: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFT122-related cranioectodermal dysplasia are definitive, biallelic_autosomal and undetermined (PMIDs: 17022080, 19760620, 20493458). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00514.; Changed publications to: 19760620, 20493458, 17022080; Changed phenotypes to: IFT122-related cranioectodermal dysplasia, MONDO:0021093, CRANIOECTODERMAL DYSPLASIA, OMIM:218330, OMIM:218330.0
DDG2P v6.17 IFITM5 Achchuthan Shanmugasundram edited their review of gene: IFITM5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFITM5-related osteogenesis imperfecta are definitive, monoallelic_autosomal and undetermined (PMIDs: 22863190, 22863195). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01448.; Changed phenotypes to: OMIM:610967.0, IFITM5-related osteogenesis imperfecta, MONDO:0012591, OSTEOGENESIS IMPERFECTA TYPE V, OMIM:610967
DDG2P v6.17 IFIH1 Achchuthan Shanmugasundram edited their review of gene: IFIH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFIH1-related Aicardi-Goutieres syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 24686847, 24995871, 25080300, 25620204, 26833990, 27658362, 28319323, 28716935, 29018476, 29270977, 29782060, 31427910, 31898846, 32042913, 32202700, 34189822, 34453469, 36685504). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01033. The DDG2P confidence category, allelic requirement and molecular mechanism for IFIH1-related Singleton-Merten syndrome are strong, monoallelic_autosomal and gain of function (PMIDs: 25620204, 28319323). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01514.; Changed publications to: 25080300, 27658362, 29018476, 31898846, 29270977, 32202700, 34453469, 24995871, 24686847, 25620204, 29782060, 28716935, 32042913, 34189822, 36685504, 31427910, 26833990, 28319323; Changed phenotypes to: IFIH1-related Aicardi-Goutieres syndrome, OMIM:182250.0, IFIH1-related Singleton-Merten syndrome, AICARDI-GOUTIERES SYNDROME 7, OMIM:615846, MONDO:0014367, MONDO:0024535, SINGLETON-MERTEN SYNDROME, OMIM:182250, OMIM:615846.0
DDG2P v6.17 IER3IP1 Achchuthan Shanmugasundram edited their review of gene: IER3IP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes are strong, biallelic_autosomal and undetermined (PMIDs: 21835305, 22991235, 24138066, 28711742, 36416459). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03485.; Changed publications to: 36416459, 22991235, 21835305, 28711742, 24138066; Changed phenotypes to: IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes, OMIM:614231.0, MONDO:0031481
DDG2P v6.17 HUWE1 Achchuthan Shanmugasundram edited their review of gene: HUWE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HUWE1-related syndromic intellectual developmental disorder, Turner type are definitive, monoallelic_X_heterozygous and undetermined (PMIDs: 18252223, 23721686, 27130160, 29180823, 30797980). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00191.; Changed publications to: 23721686, 30797980, 27130160, 18252223, 29180823; Changed phenotypes to: HUWE1-related syndromic intellectual developmental disorder, Turner type, MONDO:0010407, OMIM:309590.0, INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TURNER TYPE, OMIM:300706
DDG2P v6.17 HSF4 Achchuthan Shanmugasundram edited their review of gene: HSF4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HSF4-related cataract (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 12089525, 16876512, 19014451, 24045990, 24637349, 26490182, 29243736, 30143024). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00619.; Changed publications to: 29243736, 12089525, 24637349, 26490182, 19014451, 16876512, 30143024, 24045990; Changed phenotypes to: HSF4-related cataract (monoallelic), MONDO:0007290, OMIM:116800.0, CATARACT 5, MULTIPLE TYPES, OMIM:116800
DDG2P v6.17 HOXD13 Achchuthan Shanmugasundram edited their review of gene: HOXD13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HOXD13-related brachydactyly-syndactyly syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 12414828, 12649808, 12900906, 17236141, 19060004, 8817328, 9758628). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00949.; Changed publications to: 8817328, 17236141, 19060004, 12900906, 12414828, 9758628, 12649808; Changed phenotypes to: OMIM:610713.0, MONDO:0012544, HOXD13-related brachydactyly-syndactyly syndrome, BRACHYDACTYLY-SYNDACTYLY SYNDROME, OMIM:610713
DDG2P v6.17 HMGCS2 Achchuthan Shanmugasundram edited their review of gene: HMGCS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HMGCS2-related 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 11228257, 11479731, 12647205, 9337379, 9727719). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01325.; Changed publications to: 11479731, 9337379, 11228257, 12647205, 9727719; Changed phenotypes to: OMIM:605911.0, MONDO:0011614, 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY, OMIM:605911, HMGCS2-related 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
DDG2P v6.17 HMGCR Achchuthan Shanmugasundram edited their review of gene: HMGCR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HMGCR-related limb-girdle muscular dystrophy are moderate, biallelic_autosomal and loss of function (PMIDs: 36745799, 37167966). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03528.; Changed phenotypes to: HMGCR-related limb-girdle muscular dystrophy, MONDO:0957270, OMIM:620375.0
DDG2P v6.17 HK1 Achchuthan Shanmugasundram edited their review of gene: HK1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HK1-related neurodevelopmental disorder with visual defects and brain anomalies are strong, monoallelic_autosomal and undetermined non-loss-of-function (PMIDs: 30778173, 33057194, 36639056, 38617198, 40469904). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02858.; Changed mode of pathogenicity: Other; Changed publications to: 36639056, 33057194, 40469904, 30778173, 38617198; Changed phenotypes to: HK1-related neurodevelopmental disorder with visual defects and brain anomalies, MONDO:0032807, HK1-related developmental disorder (monoallelic), OMIM:618547.0
DDG2P v6.17 HECW2 Achchuthan Shanmugasundram edited their review of gene: HECW2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HECW2-related neurodevelopmental disorder (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 27334371, 27389779, 29395664, 29807643, 32814609, 33205896, 34047014, 34321324, 34327820, 35987951, 37280227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01893. The DDG2P confidence category, allelic requirement and molecular mechanism for HECW2-related neurodevelopmental disorder (biallelic) are limited, biallelic_autosomal and undetermined (PMIDs: 35487419, 35753050). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03392.; Changed publications to: 29395664, 29807643, 35987951, 33205896, 35753050, 34327820, 27334371, 27389779, 34321324, 37280227, 35487419, 34047014, 32814609; Changed phenotypes to: HECW2-related neurodevelopmental disorder (monoallelic), HECW2-associated neurodevelopmental disorder, HECW2-related neurodevelopmental disorder, OMIM:617268, HECW2-related neurodevelopmental disorder (biallelic), OMIM:617268.0, MONDO:0014995
DDG2P v6.17 HIST1H4J Achchuthan Shanmugasundram edited their review of gene: HIST1H4J: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H4C11-related intellectual disability with facial dysmorphism are moderate, monoallelic_autosomal and undetermined (PMIDs: 31804630, 35202563). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02441.; Changed publications to: 31804630, 35202563; Changed phenotypes to: MONDO:0030730, Intellectual disability with facial dysmorphism, OMIM:619759.0, H4C11-related intellectual disability with facial dysmorphism
DDG2P v6.17 H3F3A Achchuthan Shanmugasundram edited their review of gene: H3F3A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 31942419, 33057194, 33268356). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02443.; Changed publications to: 31942419, 33057194, 33268356; Changed phenotypes to: H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, MONDO:0030606, H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720, OMIM:619720.0
DDG2P v6.17 GSPT2 Achchuthan Shanmugasundram edited their review of gene: GSPT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GSPT2-related intellectual disability are limited, monoallelic_X_hemizygous and loss of function (PMIDs: 28414775, 31555424). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01434.; Changed publications to: 31555424, 28414775; Changed phenotypes to: GSPT2-related intellectual disability, MONDO:0001071
DDG2P v6.17 GRIN1 Achchuthan Shanmugasundram edited their review of gene: GRIN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GRIN1-related epileptic encephalopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 23934111, 25864721, 26933583, 27164704, 28228639, 28389307, 29194067, 29365063, 30355546, 31176596, 33062288, 33403508, 34227748, 34413877, 34884460, 35393335). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01109. The DDG2P confidence category, allelic requirement and molecular mechanism for GRIN1-related neurodevelopmental disorder with or without hyperkinetic movements and seizures are definitive, biallelic_autosomal and loss of function (PMIDs: 26350515, 27164704, 28051072, 34611970). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03206.; Changed publications to: 29365063, 35393335, 33062288, 34611970, 34884460, 30355546, 33403508, 28389307, 26933583, 26350515, 34413877, 28228639, 31176596, 23934111, 25864721, 29194067, 28051072, 34227748, 27164704; Changed phenotypes to: GRIN1-related neurodevelopmental disorder with or without hyperkinetic movements and seizures, MONDO:0060629, GRIN1-associated Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, OMIM:617820, OMIM:617820.0, EPILEPTIC ENCEPHALOPATHY, GRIN1-related epileptic encephalopathy, OMIM:614254.0, MONDO:0013655
DDG2P v6.17 GRHL2 Achchuthan Shanmugasundram edited their review of gene: GRHL2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GRHL2-related ectodermal dysplasia and short stature syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 25152456, 27612988). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00084.; Changed publications to: 25152456, 27612988; Changed phenotypes to: GRHL2-related ectodermal dysplasia and short stature syndrome, OMIM:616029.0, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, OMIM:616029
DDG2P v6.17 GNE Achchuthan Shanmugasundram edited their review of gene: GNE: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNE-related congenital myopathy are limited, biallelic_autosomal and undetermined (PMID:35121750). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03240. The DDG2P confidence category, allelic requirement and molecular mechanism for GNE-related sialuria are limited, monoallelic_autosomal and undetermined (PMIDs: 10330343, 10356312, 11326336, 11486897, 27142465, 29923088, 32053088). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03241.; Changed publications to: 11326336, 11486897, 27142465, 10356312, 10330343, 35121750, 32053088, 29923088; Changed phenotypes to: MONDO:0010028, OMIM:269921.0, GNE-related sialuria, GNE-associated congenital myopathy, GNE-related congenital myopathy, MONDO:0019952, GNE-associated sialuria, OMIM:269921
DDG2P v6.17 GNB2 Achchuthan Shanmugasundram edited their review of gene: GNB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNB2-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 28219978, 31698099, 33057194, 34183358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02876.; Changed publications to: 28219978, 31698099, 34183358, 33057194; Changed phenotypes to: OMIM:619503.0, GNB2-related developmental disorder (monoallelic), MONDO:0859185, GNB2-related developmental disorder
DDG2P v6.17 GNAI3 Achchuthan Shanmugasundram edited their review of gene: GNAI3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNAI3-related auriculocondylar syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 11102934, 22560091, 23315542, 25026904, 33723370, 34789173, 35170830, 39014351). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01127.; Changed publications to: 33723370, 39014351, 35170830, 34789173, 23315542, 25026904, 22560091, 11102934; Changed phenotypes to: GNAI3-related auriculocondylar syndrome, AURICULOCONDYLAR SYNDROME, OMIM:602483, OMIM:602483.0, MONDO:0011234
DDG2P v6.17 GNAI1 Achchuthan Shanmugasundram edited their review of gene: GNAI1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities are moderate, monoallelic_autosomal and undetermined (PMIDs: 33473207, 34819662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01703.; Changed phenotypes to: MONDO:0859243, OMIM:619854.0, GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854, GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities
DDG2P v6.17 GMPPB Achchuthan Shanmugasundram edited their review of gene: GMPPB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GMPPB-related muscular dystrophy-dystroglycanopathy are definitive, biallelic_autosomal and undetermined (PMIDs: 23768512, 24780531, 25681410, 26133662, 27766311, 27874200, 28433477, 28456886, 30126629, 30684953, 31211170, 31378432, 34333724, 34633329). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00893.; Changed publications to: 24780531, 28433477, 28456886, 23768512, 30684953, 27874200, 34333724, 30126629, 26133662, 25681410, 31378432, 34633329, 27766311, 31211170; Changed phenotypes to: MONDO:0014140, OMIM:615350.0, GMPPB-related muscular dystrophy-dystroglycanopathy, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OMIM:615350
DDG2P v6.17 GLUL Achchuthan Shanmugasundram edited their review of gene: GLUL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GLUL-related congenital systemic glutamine deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 16267323, 21353613). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00560.; Changed phenotypes to: OMIM:610015.0, CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY, OMIM:610015, GLUL-related congenital systemic glutamine deficiency, MONDO:0012393
DDG2P v6.17 GJC2 Achchuthan Shanmugasundram edited their review of gene: GJC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GJC2-related lymphatic malformation are moderate, monoallelic_autosomal and undetermined (PMID:20537300). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00533. The DDG2P confidence category, allelic requirement and molecular mechanism for GJC2-related leukodystrophy, hypomyelinating are definitive, biallelic_autosomal and undetermined (PMIDs: 15192806, 16969684, 18094336, 19056803, 8733901). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00695.; Changed publications to: 16969684, 20537300, 19056803, 8733901, 18094336, 15192806; Changed phenotypes to: MONDO:0013278, LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804, OMIM:608804.0, MONDO:0012125, LYMPHEDEMA, HEREDITARY, IC, OMIM:613480, OMIM:613480.0, GJC2-related leukodystrophy, hypomyelinating, GJC2-related lymphatic malformation
DDG2P v6.17 GJA8 Achchuthan Shanmugasundram edited their review of gene: GJA8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GJA8-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 10480374, 11846744, 14627691, 16604058, 18006672, 28455998, 29464339, 30262699, 30373400, 30498267, 9497259). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01251.; Changed publications to: 16604058, 28455998, 30373400, 29464339, 9497259, 11846744, 18006672, 30498267, 30262699, 14627691, 10480374; Changed phenotypes to: OMIM:116200.0, MONDO:0007285, CATARACT-MICROCORNEA SYNDROME, OMIM:116150, GJA8-related cataract
DDG2P v6.17 GJA3 Achchuthan Shanmugasundram edited their review of gene: GJA3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GJA3-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 10205266, 10746562, 15448617, 21681855, 22312188, 22550389, 22876138, 24772942, 26683566, 28877251, 29461512, 29934635). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01295.; Changed publications to: 10746562, 29934635, 29461512, 21681855, 22876138, 10205266, 26683566, 22550389, 28877251, 22312188, 15448617, 24772942; Changed phenotypes to: OMIM:601885.0, CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, OMIM:601885, GJA3-related cataract, MONDO:0011162
DDG2P v6.17 GIGYF1 Achchuthan Shanmugasundram edited their review of gene: GIGYF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GIGYF1-related developmental disorder are limited, monoallelic_autosomal and loss of function (PMIDs: 31439631, 33057194, 35917186, 36924980). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02879.; Changed publications to: 36924980, 31439631, 33057194, 35917186; Changed phenotypes to: MONDO:0700092, GIGYF1-related developmental disorder
DDG2P v6.17 GEMIN4 Achchuthan Shanmugasundram edited their review of gene: GEMIN4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GEMIN4-related neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities are strong, biallelic_autosomal and undetermined (PMIDs: 25558065, 27878435, 30237576, 35861185). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02994.; Changed publications to: 25558065, 35861185, 27878435, 30237576; Changed phenotypes to: MONDO:0060664, OMIM:617913.0, NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913, GEMIN4-related neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
DDG2P v6.17 GDF6 Achchuthan Shanmugasundram edited their review of gene: GDF6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GDF6-related oculo-skeletal syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 18425797, 19129173, 21070663, 25457163, 32737436). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00462.; Changed publications to: 21070663, 19129173, 25457163, 18425797, 32737436; Changed phenotypes to: OMIM:118100.0, GDF6 Oculo-Skeletal Syndrome, OMIM:118100, MONDO:0007306, GDF6-related oculo-skeletal syndrome
DDG2P v6.17 GDF5 Achchuthan Shanmugasundram edited their review of gene: GDF5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GDF5-related acromesomelic chondrodysplasia, Grebe type are definitive, biallelic_autosomal and loss of function (PMIDs: 12121354, 12124730, 12357473, 12900894, 16222676, 18629880, 23812741, 2703235, 9288098). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00087. The DDG2P confidence category, allelic requirement and molecular mechanism for GDF5-related symphalangism spectrum disorder are definitive, monoallelic_autosomal and loss of function (PMIDs: 10080184, 11846737, 11857750, 16127465, 16532400, 16892395, 18283415). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01320.; Changed publications to: 12357473, 2703235, 12124730, 16222676, 11857750, 9288098, 11846737, 12900894, 16127465, 18629880, 23812741, 18283415, 12121354, 16532400, 10080184, 16892395; Changed phenotypes to: MONDO:0008703, GDF5-related Symphalangism Spectrum Disorder, OMIM:185800, MONDO:0014125, OMIM:200700.0, GDF5-related symphalangism spectrum disorder, ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, OMIM:200700, GDF5-related acromesomelic chondrodysplasia, Grebe type, OMIM:615298.0
DDG2P v6.17 GDF3 Achchuthan Shanmugasundram edited their review of gene: GDF3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GDF3-related multiple malformations are limited, monoallelic_autosomal and undetermined (PMIDs: 19864492, 29260090). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00932.; Changed publications to: 29260090, 19864492; Changed phenotypes to: GDF3-related multiple malformations, GDF3 multiple malformations, OMIM:613702, OMIM:613702.0, MONDO:0013375
DDG2P v6.17 GCH1 Achchuthan Shanmugasundram edited their review of gene: GCH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GCH1-related GTP cyclohydrolase 1 deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 10987649, 12552057, 15389992, 20842687, 29471552, 7730309, 9667588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01026. The DDG2P confidence category, allelic requirement and molecular mechanism for GCH1-related dystonia are definitive, monoallelic_autosomal and undetermined (PMIDs: 10078749, 10208576, 10732814, 11113234, 11359069, 11486899, 11956954, 12023430, 12874420, 14509676, 16289769, 17111153, 17410324, 17557242, 17804835, 17898029, 18044725, 18345435, 18511327, 18621497, 19533203, 19566901, 20082337, 20108370, 20437540, 20491893, 21834904, 21935284, 22373569, 24018121, 24509643, 24948553, 25119902, 25634433, 26400349, 28087438, 28415164, 28582483, 28958832, 29290055, 29577080, 29948246, 7874165, 9576537, 9585358, 9667588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01085.; Changed publications to: 29471552, 20082337, 17111153, 29577080, 28958832, 17410324, 20108370, 11359069, 17898029, 26400349, 9576537, 22373569, 24948553, 24509643, 25119902, 17804835, 20437540, 24018121, 9667588, 21935284, 12552057, 19533203, 9585358, 29290055, 18621497, 18345435, 7730309, 21834904, 7874165, 11113234, 11486899, 28415164, 12023430, 10987649, 29948246, 10208576, 19566901, 28582483, 15389992, 10732814, 16289769, 18044725, 17557242, 20491893, 10078749, 14509676, 28087438, 18511327, 25634433, 20842687, 11956954, 12874420; Changed phenotypes to: OMIM:233910.0, DYSTONIA TYPE 5, OMIM:128230, OMIM:128230.0, GCH1-related dystonia, GCH1-related GTP cyclohydrolase 1 deficiency, GTP CYCLOHYDROLASE 1 DEFICIENCY, OMIM:233910, MONDO:0007495
DDG2P v6.17 GCDH Achchuthan Shanmugasundram edited their review of gene: GCDH: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GCDH-related glutaricacidemia are definitive, biallelic_autosomal and undetermined (PMIDs: 10699052, 11174631, 7795610, 8900227, 8900228). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00451.; Changed phenotypes to: GLUTARICACIDEMIA TYPE 1, OMIM:231670, GCDH-related glutaricacidemia, OMIM:231670.0
DDG2P v6.17 GABRB3 Achchuthan Shanmugasundram edited their review of gene: GABRB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRB3-related childhood absence epilepsy are definitive, monoallelic_autosomal and undetermined (PMIDs: 18514161, 23934111, 27476654). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00479.; Changed publications to: 23934111, 27476654, 18514161; Changed phenotypes to: GABRB3-related childhood absence epilepsy, CHILDHOOD ABSENCE EPILEPSY TYPE 5, OMIM:612269, MONDO:0012843, OMIM:612269.0
DDG2P v6.17 GABRA2 Achchuthan Shanmugasundram edited their review of gene: GABRA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRA2-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 29422393, 29961870, 31032849). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03475.; Changed publications to: 29961870, 31032849, 29422393; Changed phenotypes to: GABRA2-related epileptic encephalopathy, OMIM:618557.0, MONDO:0032812
DDG2P v6.17 GABBR2 Achchuthan Shanmugasundram edited their review of gene: GABBR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABBR2-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 25262651, 26740508, 28856709, 29100083, 29369404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01145.; Changed publications to: 26740508, 29100083, 28856709, 25262651, 29369404; Changed phenotypes to: EPILEPTIC ENCEPHALOPATHY, GABBR2-related epileptic encephalopathy, MONDO:0033368, OMIM:617904.0
DDG2P v6.17 FZR1 Achchuthan Shanmugasundram edited their review of gene: FZR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FZR1-related intellectual disability and epilepsy are strong, monoallelic_autosomal and undetermined (PMIDs: 31318984, 34788397). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03223.; Changed phenotypes to: OMIM:620145.0, FZR1-related intellectual disability and epilepsy, MONDO:0859325
DDG2P v6.17 FXN Achchuthan Shanmugasundram edited their review of gene: FXN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FXN-related Friedreich ataxia are definitive, biallelic_autosomal and loss of function (PMIDs: 10633128, 22409940, 22691228, 24705334, 25566998, 26704351, 28405347, 30681346). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03444.; Changed publications to: 22409940, 10633128, 24705334, 28405347, 30681346, 25566998, 22691228, 26704351; Changed phenotypes to: FXN-related Friedreich ataxia, MONDO:0100340, OMIM:229300.0
DDG2P v6.17 FRMD7 Achchuthan Shanmugasundram edited their review of gene: FRMD7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FRMD7-related nystagmus, congenital are definitive, monoallelic_X_hemizygous and loss of function (PMIDs: 16240070, 17013395, 17397053, 17962394, 18087240, 19072571, 21746984, 25678693). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00559.; Changed rating: GREEN; Changed publications to: 17962394, 17013395, 17397053, 18087240, 16240070, 19072571, 21746984, 25678693; Changed phenotypes to: NYSTAGMUS 1, CONGENITAL, X-LINKED, OMIM:310700, MONDO:0010693, FRMD7-related nystagmus, congenital, OMIM:310700.0
DDG2P v6.17 FOXP4 Achchuthan Shanmugasundram edited their review of gene: FOXP4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FOXP4-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 33110267, 36301021). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03059.; Changed publications to: 36301021, 33110267; Changed phenotypes to: MONDO:0700092, FOXP4-related Developmental Disorder, FOXP4-related developmental disorder
DDG2P v6.17 FOXE1 Achchuthan Shanmugasundram edited their review of gene: FOXE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FOXE1-related Bamforth-Lazarus syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 16882747, 35963604, 9697705). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00542.; Changed publications to: 35963604, 9697705, 16882747; Changed phenotypes to: MONDO:0009437, BAMFORTH-LAZARUS SYNDROME, OMIM:241850, OMIM:241850.0, FOXE1-related Bamforth-Lazarus syndrome
DDG2P v6.17 FLVCR1 Achchuthan Shanmugasundram edited their review of gene: FLVCR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FLVCR1-related ataxia, posterior column, with retinitis pigmentosa are definitive, biallelic_autosomal and undetermined (PMIDs: 21070897, 21267618, 30656474, 9409377). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00551.; Changed publications to: 21267618, 21070897, 30656474, 9409377; Changed phenotypes to: FLVCR1-related ataxia, posterior column, with retinitis pigmentosa, OMIM:609033.0, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, OMIM:609033, MONDO:0012177
DDG2P v6.17 FLT4 Achchuthan Shanmugasundram edited their review of gene: FLT4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FLT4-related Milroy disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 10835628, 10856194, 12960217, 16924388, 16965327, 19289394). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01266. The DDG2P confidence category, allelic requirement and molecular mechanism for FLT4-related congenital heart disease are strong, monoallelic_autosomal and loss of function (PMID:33067626). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03441.; Changed publications to: 10856194, 33067626, 12960217, 10835628, 16924388, 19289394, 16965327; Changed phenotypes to: MILROY DISEASE, OMIM:153100, OMIM:153100.0, FLT4-related Milroy disease, MONDO:0032913, FLT4-related congenital heart disease, MONDO:0007919, OMIM:618780.0, CONGENITAL HEART DISEASE
DDG2P v6.17 FGFR3 Achchuthan Shanmugasundram edited their review of gene: FGFR3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related lacrimo-auriculo-dento-digital syndrome (LADD) are definitive, monoallelic_autosomal and undetermined (PMIDs: 16501574, 28483234). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00012. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related Muenke syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 10914960, 11197897, 9042914, 9279753, 9279764, 9525367, 9600744, 9950359). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00178. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related Crouzon syndrome with acanthosis nigricans are definitive, monoallelic_autosomal and gain of function (PMIDs: 11426459, 23437153, 31016899, 32860240, 34388723, 37397405, 7493034, 8880573). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00864. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related achondroplasia are definitive, monoallelic_autosomal and gain of function (PMIDs: 10611230, 11186940, 16411219, 16912704, 7758520, 7847369, 7913883, 8078586, 8599370, 8844216, 8949407, 9001669, 9401015). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00944. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related thanatophoric dysplasia, type 2 are definitive, monoallelic_autosomal and gain of function (PMID:7773297). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01101. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related camptodactyly tall stature and hearing loss syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 17033969, 27139183). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01202. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related hypochondroplasia are definitive, monoallelic_autosomal and gain of function (PMIDs: 10215410, 11015576, 11055896, 16912704, 7670477, 8589686, 9452043). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01257. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related thanatophoric dysplasia, type 1 are definitive, monoallelic_autosomal and gain of function (PMIDs: 10360402, 10910625, 11309183, 19449430, 7647778, 7773297, 8589699, 8845844, 9215781, 9790257). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01321.; Changed publications to: 16912704, 8949407, 8078586, 10215410, 11309183, 11055896, 23437153, 11426459, 9279764, 9950359, 7913883, 11186940, 9215781, 28483234, 11197897, 37397405, 16501574, 9042914, 16411219, 7847369, 8845844, 8589699, 27139183, 8880573, 9279753, 7670477, 17033969, 10914960, 9001669, 7647778, 8599370, 9452043, 7493034, 19449430, 10360402, 7773297, 10611230, 31016899, 9525367, 9401015, 8844216, 11015576, 34388723, 32860240, 9600744, 8589686, 7758520, 10910625, 9790257; Changed phenotypes to: MONDO:0859577, MONDO:0012833, FGFR3-related thanatophoric dysplasia, type 1, FGFR3-related Crouzon syndrome with acanthosis nigricans, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, OMIM:610474, HYPOCHONDROPLASIA, OMIM:146000, OMIM:620192.0, MONDO:0008546, OMIM:100800.0, THANATOPHORIC DYSPLASIA TYPE 2, OMIM:187601, FGFR3-related thanatophoric dysplasia, type 2, OMIM:146000.0, MONDO:0008547, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OMIM:612247, OMIM:610474.0, MUENKE SYNDROME, OMIM:602849, FGFR3-related achondroplasia, FGFR3-related Muenke syndrome, OMIM:187600.0, MONDO:0011274, MONDO:0012504, THANATOPHORIC DYSPLASIA TYPE 1, OMIM:187600, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ACHONDROPLASIA, OMIM:100800, OMIM:187601.0, FGFR3-related lacrimo-auriculo-dento-digital syndrome (LADD), MONDO:0007793, FGFR3-related hypochondroplasia, MONDO:0007037, OMIM:612247.0, OMIM:602849.0, FGFR3-related camptodactyly tall stature and hearing loss syndrome
DDG2P v6.17 FGFR2 Achchuthan Shanmugasundram edited their review of gene: FGFR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Crouzon syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 10574673, 15523492, 17621648, 22038757, 7558045, 7581378, 7607643, 7655462, 7773284, 7874170, 7987400, 8528214, 8956050, 9152842, 9677057). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00144. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Apert Syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 7668257, 7719344, 8651276, 9002682, 9217234, 9452027, 9973282). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00331. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related lacrimo-auriculo-dento-digital syndrome (LADD) are definitive, monoallelic_autosomal and gain of function (PMIDs: 16501574, 32715658). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00621. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Jackson-Weiss syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 7874170, 9385368). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01005. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Antley-Bixler syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 10633130, 15793702, 9605588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01090. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Beare-Stevenson cutis gyrata syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 12000365, 19610084, 8696350, 9545103). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01273. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Pfeiffer syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 10394936, 10731087, 10945669, 11380927, 11556600, 11807866, 7719333, 9150725, 9457499, 9475591). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01586.; Changed publications to: 9457499, 22038757, 8696350, 17621648, 8528214, 11807866, 7655462, 8956050, 9002682, 9475591, 7719344, 16501574, 15523492, 9217234, 7581378, 9973282, 11380927, 9385368, 15793702, 11556600, 7874170, 9150725, 9605588, 7719333, 7668257, 10633130, 10574673, 9545103, 12000365, 7773284, 7987400, 32715658, 9677057, 10731087, 9152842, 10394936, 10945669, 7558045, 9452027, 7607643, 8651276, 19610084; Changed phenotypes to: OMIM:149730.0, OMIM:123150.0, MONDO:0020667, MONDO:0007400, OMIM:123790.0, MONDO:0007412, MONDO:0007043, FGFR2-related lacrimo-auriculo-dento-digital syndrome (LADD), OMIM:101600.0, OMIM:101200.0, MONDO:0007405, FGFR2-related Pfeiffer syndrome, CROUZON SYNDROME, OMIM:123500, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600, OMIM:207410.0, MONDO:0100302, OMIM:123500.0, FGFR2-related Apert Syndrome, APERT SYNDROME, OMIM:101200, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ANTLEY-BIXLER SYNDROME, OMIM:207410, FGFR2-related Jackson-Weiss syndrome, JACKSON-WEISS SYNDROME, OMIM:123150, FGFR2-related Antley-Bixler syndrome, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, MONDO:0007041, FGFR2-related Crouzon syndrome, FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730, FGFR2-related Beare-Stevenson cutis gyrata syndrome, FGFR2-related Pfeiffer syndrome, OMIM:101600
DDG2P v6.17 FGF13 Achchuthan Shanmugasundram edited their review of gene: FGF13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FGF13-related neurodevelopmental disorder are strong, monoallelic_X_hemizygous and gain of function (PMIDs: 27073347, 33245860, 34184986). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03095. The DDG2P confidence category, allelic requirement and molecular mechanism for FGF13-related neurodevelopmental disorder are limited, monoallelic_X_heterozygous and gain of function (PMIDs: 33245860, 34871784, 37536293). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03096.; Changed publications to: 27073347, 34871784, 37536293, 34184986, 33245860; Changed phenotypes to: FGF13-related neurodevelopmental disorder (X-linked dominant), OMIM:301058.0, MONDO:0025353, FGF13-related neurodevelopmental disorder, FGF13-related neurodevelopmental disorder (hemizygous); Changed 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 v6.17 FDXR Achchuthan Shanmugasundram edited their review of gene: FDXR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome are strong, biallelic_autosomal and loss of function (PMIDs: 28965846, 30250212, 32499495, 33938912). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03502.; Changed publications to: 32499495, 28965846, 33938912, 30250212; Changed phenotypes to: OMIM:617717.0, FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, MONDO:0034092
DDG2P v6.17 FBXW7 Achchuthan Shanmugasundram edited their review of gene: FBXW7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXW7-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 33057194, 35395208). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02875.; Changed publications to: 35395208, 33057194; Changed phenotypes to: OMIM:620012.0, MONDO:0859280, FBXW7-related developmental disorder (monoallelic), FBXW7-related developmental disorder
DDG2P v6.17 FBXW4 Achchuthan Shanmugasundram edited their review of gene: FBXW4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXW4-related split-hand and foot malformation are limited, monoallelic_autosomal and undetermined (PMIDs: 12913067, 12974740, 16691619, 16761290, 29263051, 38250576). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00400.; Changed publications to: 12913067, 38250576, 29263051, 16691619, 16761290, 12974740; Changed phenotypes to: MONDO:0009525, FBXW4-related split-hand and foot malformation, SPLIT-HAND/FOOT MALFORMATION TYPE 3, OMIM:246560, OMIM:246560.0
DDG2P v6.17 FBXO28 Achchuthan Shanmugasundram edited their review of gene: FBXO28: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXO28-related developmental and epileptic encephalopathy with profound intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 30160831, 33280099, 37543484). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03080.; Changed publications to: 33280099, 37543484, 30160831; Changed phenotypes to: FBXO28-related developmental and epileptic encephalopathy with profound intellectual disability, MONDO:0030695, FBX028-related developmental and epileptic encephalopathy with profound intellectual disability, OMIM:619777.0
DDG2P v6.17 EZH2 Achchuthan Shanmugasundram edited their review of gene: EZH2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EZH2-related Weaver syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 24214728, 26694085, 26762561, 30793471). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01503.; Changed publications to: 26694085, 24214728, 26762561, 30793471; Changed phenotypes to: MONDO:0010193, WEAVER SYNDROME 2, OMIM:614421, OMIM:277590.0, EZH2-related Weaver syndrome
DDG2P v6.17 ERI1 Achchuthan Shanmugasundram edited their review of gene: ERI1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ERI1-related severe growth restriction and skeletal dysplasia are moderate, biallelic_autosomal and loss of function (PMID:37352860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03515. The DDG2P confidence category, allelic requirement and molecular mechanism for ERI1-related brachydactyly and mild neurodevelopmental delay are moderate, biallelic_autosomal and loss of function (PMIDs: 28488351, 36208065, 37352860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03516.; Changed publications to: 37352860, 36208065, 28488351; Changed phenotypes to: ERI1-related brachydactyly and mild neurodevelopmental delay, OMIM:620662.0, MONDO:0958005, ERI1-related severe growth restriction and skeletal dysplasia, MONDO:0958006, OMIM:620663.0
DDG2P v6.17 EMG1 Achchuthan Shanmugasundram edited their review of gene: EMG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EMG1-related Bowen-Conradi syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 19463982, 25708872, 26676230, 27798105). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01877.; Changed publications to: 25708872, 19463982, 26676230, 27798105; Changed phenotypes to: OMIM:211180.0, Bowen-Conradi syndrome, OMIM:211180, EMG1-related Bowen-Conradi syndrome, MONDO:0008879
DDG2P v6.17 EED Achchuthan Shanmugasundram edited their review of gene: EED: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EED-related Weaver-like overgrowth syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 25787343, 27193220, 27868325, 28475857). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02232.; Changed publications to: 25787343, 27868325, 28475857, 27193220; Changed phenotypes to: EED-related Weaver-like overgrowth syndrome, Weaver-like overgrowth syndrome, OMIM:617561.0, MONDO:0060510
DDG2P v6.17 EDNRB Achchuthan Shanmugasundram edited their review of gene: EDNRB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EDNRB-related Waardenburg syndrome with Hirschsprung are definitive, biallelic_autosomal and loss of function (PMIDs: 11773966, 11891690, 16237557, 21373256, 21715336, 23360229, 25852447, 28502583, 30394532, 40702859, 7778600, 8001158). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03082.; Changed publications to: 11773966, 40702859, 21715336, 30394532, 21373256, 8001158, 16237557, 11891690, 23360229, 7778600, 25852447, 28502583; Changed phenotypes to: ABCD SYNDROME, OMIM:600501, MONDO:0010192, OMIM:277580.0, EDNRB-related Waardenburg syndrome with Hirschsprung; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 DYNC1H1 Achchuthan Shanmugasundram edited their review of gene: DYNC1H1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DYNC1H1-related spinal muscular atrophy, lower extremity-predominant are definitive, monoallelic_autosomal and undetermined (PMIDs: 22459677, 22847149, 24307404, 25484024, 25609763, 26846447, 27066557, 28193117, 28554554, 29306600, 30122514, 30246859, 32947049, 34368388, 35606327, 35899263, 36720598, 36882741, 37395972). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00192. The DDG2P confidence category, allelic requirement and molecular mechanism for DYNC1H1-related severe intellectual disability with neuronal migration disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 22368300, 24307404, 25609763, 27331017, 27754416, 28193117, 28395088, 34092403, 34786417, 34803881, 35099838, 36175372, 36636459, 37181555, 37903666). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01629.; Changed publications to: 35099838, 32947049, 25609763, 30246859, 34786417, 37395972, 27754416, 37903666, 26846447, 35899263, 36636459, 37181555, 29306600, 36720598, 34368388, 22459677, 22368300, 28193117, 24307404, 27066557, 28395088, 34803881, 30122514, 36882741, 25484024, 35606327, 34092403, 36175372, 28554554, 22847149, 27331017; Changed phenotypes to: SEVERE ID WITH NEURONAL MIGRATION DISORDER, OMIM:600112, OMIM:158600.0, OMIM:614563.0, DYNC1H1-related spinal muscular atrophy, lower extremity-predominant, MONDO:0013805, DYNC1H1-related severe intellectual disability with neuronal migration disorder, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD, OMIM:158600
DDG2P v6.17 DOLK Achchuthan Shanmugasundram edited their review of gene: DOLK: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DOLK-related congenital disorder of glycosylation are definitive, biallelic_autosomal and undetermined (PMIDs: 17273964, 22242004). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00513.; Changed publications to: 17273964, 22242004; Changed phenotypes to: OMIM:610768.0, CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379, MONDO:0012556, DOLK-related congenital disorder of glycosylation
DDG2P v6.17 DNM1L Achchuthan Shanmugasundram edited their review of gene: DNM1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNM1L-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 26604000, 26992161, 27328748, 29877124, 30801875, 30850373, 30939602, 31475481, 31587467). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02853.; Changed publications to: 30850373, 30939602, 26992161, 30801875, 26604000, 31587467, 31475481, 27328748, 29877124; Changed phenotypes to: DNM1L-related developmental disorder, MONDO:0013726, DNM1L-related developmental disorder (monoallelic), OMIM:614388.0
DDG2P v6.17 DNM1 Achchuthan Shanmugasundram edited their review of gene: DNM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNM1-related microcephaly, developmental and epileptic encephalopathy (monoallelic) are strong, monoallelic_autosomal and dominant negative (PMIDs: 25262651, 26611353, 28667181, 29397573, 29427836, 30455886, 32909139, 34172529, 34386584, 36413998, 37039969, 37132416, 37248033, 38009673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00371. The DDG2P confidence category, allelic requirement and molecular mechanism for DNM1-related microcephaly, developmental and epileptic encephalopathy (biallelic) are moderate, biallelic_autosomal and loss of function (PMIDs: 34172529, 36413998, 36553519, 37900685). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03414.; Changed publications to: 29427836, 38009673, 34172529, 32909139, 36553519, 34386584, 26611353, 37900685, 36413998, 29397573, 25262651, 28667181, 37132416, 37248033, 30455886, 37039969; Changed phenotypes to: OMIM:620352.0, DNM1-related microcephaly, developmental and epileptic encephalopathy (biallelic), MONDO:0957248, DNM1-related microcephaly, developmental and epileptic encephalopathy (monoallelic), DNM1-associated microcephaly, developmental and epileptic encephalopathy
DDG2P v6.17 DNA2 Achchuthan Shanmugasundram edited their review of gene: DNA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts are limited, biallelic_autosomal and undetermined (PMIDs: 24389050, 31045292, 37055165). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00662.; Changed rating: RED; Changed publications to: 24389050, 31045292, 37055165; Changed phenotypes to: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807, MONDO:0014350, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807, OMIM:615807.0, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts
DDG2P v6.17 DHFR Achchuthan Shanmugasundram edited their review of gene: DHFR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHFR-related megaloblastic anemia due to dihydrofolate reductase deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 21310276, 21310277). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00614.; Changed phenotypes to: OMIM:613839.0, MONDO:0013456, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OMIM:613839, DHFR-related megaloblastic anemia due to dihydrofolate reductase deficiency
DDG2P v6.17 DEAF1 Achchuthan Shanmugasundram edited their review of gene: DEAF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DEAF1-related intellectual developmental disorder are definitive, monoallelic_autosomal and dominant negative (PMIDs: 21076407, 24726472). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00255. The DDG2P confidence category, allelic requirement and molecular mechanism for DEAF1-related autism, intellectual disability, basal ganglia dysfunction and epilepsy are strong, biallelic_autosomal and loss of function (PMIDs: 26048982, 26834045). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02423.; Changed publications to: 24726472, 21076407, 26048982, 26834045; Changed phenotypes to: OMIM:615828.0, Autism, intellectual disability, basal ganglia dysfunction and epilepsy, OMIM:617171.0, DEAF1-related autism, intellectual disability, basal ganglia dysfunction and epilepsy, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24, OMIM:615828, DEAF1-related intellectual developmental disorder
DDG2P v6.17 DDR2 Achchuthan Shanmugasundram edited their review of gene: DDR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDR2-related spondyloepimetaphyseal dysplasia short limb-hand type are definitive, biallelic_autosomal and undetermined (PMIDs: 19110212, 8434618). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00916.; Changed publications to: 8434618, 19110212; Changed phenotypes to: OMIM:271665.0, SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE, OMIM:271665, DDR2-related spondyloepimetaphyseal dysplasia short limb-hand type, MONDO:0010077
DDG2P v6.17 DACT1 Achchuthan Shanmugasundram edited their review of gene: DACT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DACT1-related multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems are limited, monoallelic_autosomal and loss of function (PMIDs: 22610794, 28054444, 36066768). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02805.; Changed publications to: 36066768, 22610794, 28054444; Changed phenotypes to: OMIM:617466.0, Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems, DACT1-related multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems, MONDO:0054582
DDG2P v6.17 CYP1B1 Achchuthan Shanmugasundram edited their review of gene: CYP1B1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CYP1B1-related primary congenital glaucoma, type 3A are definitive, biallelic_autosomal and undetermined (PMIDs: 10227395, 12372064, 15342693, 19643970, 19807744, 27777502, 9097971, 9463332, 9497261). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01364.; Changed publications to: 9497261, 12372064, 19807744, 9097971, 15342693, 27777502, 10227395, 9463332, 19643970; Changed phenotypes to: CYP1B1-related primary congenital glaucoma, type 3A, MONDO:0009277, PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300, OMIM:231300.0
DDG2P v6.17 CYFIP2 Achchuthan Shanmugasundram edited their review of gene: CYFIP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CYFIP2-related epileptic encephalopathy, early infantile are definitive, monoallelic_autosomal and undetermined (PMIDs: 29534297, 29667327, 30664714, 31689829). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02991.; Changed phenotypes to: CYFIP2-related epileptic encephalopathy, early infantile, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468, OMIM:618008.0, MONDO:0033374
DDG2P v6.17 CUX1 Achchuthan Shanmugasundram edited their review of gene: CUX1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CUX1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 30014507, 37644171). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02990.; Changed rating: GREEN; Changed publications to: 37644171, 30014507; Changed phenotypes to: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT, CUX1-related neurodevelopmental disorder, MONDO:0032680, OMIM:618330.0
DDG2P v6.17 CRYBB3 Achchuthan Shanmugasundram edited their review of gene: CRYBB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRYBB3-related cataract are definitive, biallelic_autosomal and undetermined (PMIDs: 15914629, 19182255, 23508780, 27326458). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00941.; Changed publications to: 23508780, 19182255, 27326458, 15914629; Changed phenotypes to: OMIM:609741.0, CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2, OMIM:609741, CRYBB3-related cataract, MONDO:0012336
DDG2P v6.17 CRYBA4 Achchuthan Shanmugasundram edited their review of gene: CRYBA4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRYBA4-related cataract with or wihout microcornea or microphthalmia are definitive, monoallelic_autosomal and undetermined non-loss-of-function (PMIDs: 15452067, 16960806, 20577656). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01130.; Changed rating: GREEN; Changed publications to: 15452067, 16960806, 20577656; Changed phenotypes to: MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426, MONDO:0012489, CRYBA4-related cataract with or wihout microcornea or microphthalmia, OMIM:610425.0
DDG2P v6.17 CRKL Achchuthan Shanmugasundram edited their review of gene: CRKL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRKL-related bladder exstrophy plus are limited, monoallelic_autosomal and undetermined (PMIDs: 24764164, 30628148, 34355505). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02557.; Changed publications to: 24764164, 30628148, 34355505; Changed phenotypes to: CRKL-related bladder exstrophy plus, Bladder exstrophy plus
DDG2P v6.17 CRELD1 Achchuthan Shanmugasundram edited their review of gene: CRELD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRELD1-related atrioventricular septal defect susceptibility are limited, monoallelic_autosomal and undetermined (PMIDs: 12632326, 21080147, 22740159). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01141. The DDG2P confidence category, allelic requirement and molecular mechanism for CRELD1-related neurodevelopmental disorder with hypotonia and seizures are moderate, biallelic_autosomal and undetermined (PMID:37947183). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03532.; Changed publications to: 37947183, 22740159, 12632326, 21080147; Changed phenotypes to: OMIM:606217.0, MONDO:0958329, CRELD1-related atrioventricular septal defect susceptibility, CRELD1-related neurodevelopmental disorder with hypotonia and seizures, MONDO:0011650, OMIM:620771.0, CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771, CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217
DDG2P v6.17 CRADD Achchuthan Shanmugasundram edited their review of gene: CRADD: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRADD-related intellectual developmental disorder with variant lissencephaly are limited, biallelic_autosomal and undetermined (PMIDs: 22279524, 27773430). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01409.; Changed publications to: 22279524, 27773430; Changed phenotypes to: OMIM:614499.0, MONDO:0013785, CRADD-related intellectual developmental disorder with variant lissencephaly, INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499
DDG2P v6.17 COX18 Achchuthan Shanmugasundram edited their review of gene: COX18: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COX18-related peripheral neuropathy are limited, biallelic_autosomal and loss of function (PMIDs: 37468577, 38960055, 39006432). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03567.; Changed publications to: 39006432, 38960055, 37468577
DDG2P v6.17 COX10 Achchuthan Shanmugasundram edited their review of gene: COX10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COX10-related Leigh syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 10767350, 12928484, 15455402). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01068.; Changed publications to: 12928484, 10767350, 15455402; Changed phenotypes to: OMIM:619046.0, LEIGH SYNDROME, OMIM:256000, COX10-related Leigh syndrome, MONDO:0033635
DDG2P v6.17 COL9A3 Achchuthan Shanmugasundram edited their review of gene: COL9A3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COL9A3-related multiple epiphyseal dysplasia are definitive, monoallelic_autosomal and dominant negative (PMIDs: 10090888, 10655510, 15551337). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01100. The DDG2P confidence category, allelic requirement and molecular mechanism for COL9A3-related Stickler syndrome are limited, biallelic_autosomal and loss of function (PMIDs: 24273071, 30450842, 31090205). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02091.; Changed publications to: 10090888, 24273071, 30450842, 10655510, 31090205, 15551337; Changed phenotypes to: OMIM:600969.0, COL9A3-related Stickler syndrome, OMIM:620022.0, MONDO:0031047, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3, OMIM:600969, COL9A3-related multiple epiphyseal dysplasia, Stickler syndrome, MONDO:0010964; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 COL6A1 Achchuthan Shanmugasundram edited their review of gene: COL6A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COL6A1-related myopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 11932968, 15955946, 36779064, 8782832). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01750.; Changed publications to: 15955946, 36779064, 8782832, 11932968; Changed phenotypes to: MONDO:0024530, COL6A1-related myopathy, COL6A1 associated myopathy, OMIM:158810.0
DDG2P v6.17 COL1A1 Achchuthan Shanmugasundram edited their review of gene: COL1A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COL1A1-related osteogenesis imperfecta spectrum are definitive, monoallelic_autosomal and dominant negative (PMIDs: 11286507, 12538651, 15024692, 15728585, 1613761, 1634225, 1737847, 1770532, 18409203, 1864604, 1874719, 1988452, 2037280, 21834035, 2295701, 2298750, 2309707, 2339700, 2500431, 2511192, 2794057, 2913053, 3082886, 3108247, 3403550, 3667599, 7789952, 7816518, 7881420, 8097422, 8100209, 8364588, 8408653, 8456809, 8723681, 8757037, 8786074, 8910493, 8950680, 9067755, 9295084). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00021. The DDG2P confidence category, allelic requirement and molecular mechanism for COL1A1-related Caffey disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 15864348, 34272483). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00575.; Changed publications to: 2511192, 3403550, 9067755, 2309707, 12538651, 1988452, 2500431, 8757037, 8786074, 8910493, 8723681, 8408653, 2339700, 1737847, 8100209, 3082886, 7881420, 34272483, 2913053, 15024692, 9295084, 1874719, 7816518, 1634225, 18409203, 15864348, 2298750, 21834035, 1613761, 15728585, 1864604, 11286507, 3108247, 8950680, 8097422, 2794057, 7789952, 2295701, 3667599, 8364588, 1770532, 8456809, 2037280; Changed phenotypes to: OMIM:166220.0, MONDO:0008148, CAFFEY DISEASE, OMIM:114000, MONDO:0007244, OMIM:114000.0, COL1A1-related Caffey disease, COL1A1-related osteogenesis imperfecta spectrum, COL1A1-RELATED OSTEOGENESIS IMPERFECTA, OMIM:166200
DDG2P v6.17 COL11A2 Achchuthan Shanmugasundram edited their review of gene: COL11A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COL11A2-related otospondylomegaepiphyseal dysplasia are definitive, biallelic_autosomal and dominant negative (PMIDs: 10677296, 15558753, 16189708, 16637051, 21204229, 21208667, 32341816, 37347055, 7859284, 9188673). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00117. The DDG2P confidence category, allelic requirement and molecular mechanism for COL11A2-related deafness (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 10581026, 10733181, 11177008, 15562903). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00879. The DDG2P confidence category, allelic requirement and molecular mechanism for COL11A2-related deafness (biallelic) are definitive, biallelic_autosomal and undetermined (PMIDs: 16033917, 25633957). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00926. The DDG2P confidence category, allelic requirement and molecular mechanism for COL11A2-related Stickler syndrome are definitive, monoallelic_autosomal and dominant negative (PMIDs: 10718438, 14234962, 15372529, 15558753, 18381781, 22796475, 25780254, 7833911, 9506662, 9805126). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01074.; Changed publications to: 15562903, 10718438, 14234962, 7859284, 16189708, 9506662, 11177008, 9805126, 16033917, 25780254, 15372529, 16637051, 22796475, 18381781, 10581026, 10677296, 32341816, 37347055, 15558753, 9188673, 7833911, 21208667, 25633957, 21204229, 10733181; Changed phenotypes to: DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, OMIM:609706, OMIM:215150.0, COL11A2-related deafness (monoallelic), OMIM:184840.0, STICKLER SYNDROME TYPE 3, OMIM:184840, MONDO:0012333, COL11A2-related deafness (biallelic), MONDO:0044206, MONDO:0008490, AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OMIM:215150, DEAFNESS AUTOSOMAL DOMINANT TYPE 13, OMIM:601868, COL11A2-related Stickler syndrome, COL11A2-related otospondylomegaepiphyseal dysplasia, OMIM:609706.0
DDG2P v6.17 CNOT9 Achchuthan Shanmugasundram edited their review of gene: CNOT9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT9-related developmental disorder with seizures are moderate, monoallelic_autosomal and loss of function (PMIDs: 30309886, 37092538). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03501.; Changed publications to: 30309886, 37092538
DDG2P v6.17 CNOT2 Achchuthan Shanmugasundram edited their review of gene: CNOT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT2-related neurodevelopmental disorder with hypotonia are strong, monoallelic_autosomal and loss of function (PMIDs: 21299754, 31145527, 31512373, 36224108). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03500.; Changed publications to: 36224108, 21299754, 31512373, 31145527; Changed phenotypes to: OMIM:618608.0, MONDO:0032832, CNOT2-related neurodevelopmental disorder with hypotonia
DDG2P v6.17 CNOT1 Achchuthan Shanmugasundram edited their review of gene: CNOT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT1-related holoprosencephaly with or without pancreatic agenesis are strong, monoallelic_autosomal and undetermined (PMIDs: 31006510, 31006513). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02776. The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT1-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMID:32553196). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03009.; Changed phenotypes to: OMIM:619033.0, MONDO:0032787, CNOT1-related neurodevelopmental disorder, OMIM:618500.0, MONDO:0033618, CNOT1-related holoprosencephaly with or without pancreatic agenesis, HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS, OMIM:618500
DDG2P v6.17 CLDN5 Achchuthan Shanmugasundram edited their review of gene: CLDN5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLDN5-related neurodevelopmental disorder are limited, monoallelic_autosomal and undetermined (PMIDs: 35714222, 36477332). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03328.; Changed publications to: 36477332, 35714222; Changed phenotypes to: MONDO:0700092, CLDN5-related neurodevelopmental disorder
DDG2P v6.17 CLCN6 Achchuthan Shanmugasundram edited their review of gene: CLCN6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLCN6-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 28074849, 29667327, 33217309). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03073.; Changed publications to: 28074849, 29667327, 33217309; Changed phenotypes to: CLCN6-related Developmental Disorder, OMIM:619173.0, CLCN6-related developmental disorder
DDG2P v6.17 CLCN4 Achchuthan Shanmugasundram edited their review of gene: CLCN4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLCN4-related infantile epileptic encephalopathy and/or intellectual disability are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 23647072, 25644381, 27550844). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01457.; Changed publications to: 23647072, 27550844, 25644381; Changed phenotypes to: OMIM:300114.0, INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY, CLCN4-related infantile epileptic encephalopathy and/or intellectual disability
DDG2P v6.17 CHRNA2 Achchuthan Shanmugasundram edited their review of gene: CHRNA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CHRNA2-related nocturnal frontal lobe epilepsy are strong, monoallelic_autosomal and undetermined (PMIDs: 16826524, 25770198, 25847220, 30809122). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00766.; Changed rating: GREEN; Changed publications to: 30809122, 16826524, 25770198, 25847220; Changed phenotypes to: CHRNA2-related nocturnal frontal lobe epilepsy, OMIM:610353.0, CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607, MONDO:0012474
DDG2P v6.17 CHD3 Achchuthan Shanmugasundram edited their review of gene: CHD3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CHD3-related macrocephaly and impaired speech and language are strong, monoallelic_autosomal and undetermined (PMIDs: 30397230, 32483341, 33358638, 33571694, 34535214, 35346573, 36565043). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02440.; Changed publications to: 35346573, 36565043, 30397230, 34535214, 32483341, 33358638, 33571694; Changed phenotypes to: MONDO:0032600, Macrocephaly and impaired speech and language, CHD3-related macrocephaly and impaired speech and language, OMIM:618205.0
DDG2P v6.17 CDK13 Achchuthan Shanmugasundram edited their review of gene: CDK13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDK13-related syndromic intellectual disability with or without congenital heart disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 27479907, 28807008, 29021403, 29222009, 29393965, 31883531, 35063350, 35651941, 36599938, 37351084). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01767.; Changed publications to: 35063350, 36599938, 28807008, 31883531, 29021403, 29222009, 27479907, 37351084, 29393965, 35651941; Changed phenotypes to: MONDO:0044302, CDK13-related syndromic intellectual disability with or without congenital heart disease, OMIM:617360.0, Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
DDG2P v6.17 CDH2 Achchuthan Shanmugasundram edited their review of gene: CDH2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDH2-related syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects are strong, monoallelic_autosomal and undetermined (PMIDs: 31585109, 31650526). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02812.; Changed phenotypes to: Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects, CDH2-related syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects, OMIM:618929.0, MONDO:0030065
DDG2P v6.17 CDC42 Achchuthan Shanmugasundram edited their review of gene: CDC42: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDC42-related neurodevelopmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 26386261, 26708094, 29394990). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02933.; Changed publications to: 26708094, 26386261, 29394990; Changed phenotypes to: CDC42-related neurodevelopmental disorder, CDC42-related Neurodevelopmental Disorder, OMIM:616737.0
DDG2P v6.17 CCDC22 Achchuthan Shanmugasundram edited their review of gene: CCDC22: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CCDC22-related syndromic intellectual disability are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 24916641, 36073196). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01275.; Changed publications to: 36073196, 24916641; Changed phenotypes to: OMIM:300963.0, SYNDROMIC X-LINKED INTELLECTUAL DISABILITY, CCDC22-related syndromic intellectual disability, MONDO:0010499
DDG2P v6.17 CAPRIN1 Achchuthan Shanmugasundram edited their review of gene: CAPRIN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CAPRIN1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 23849776, 35979925). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01316.; Changed publications to: 35979925, 23849776; Changed phenotypes to: CAPRIN1-related neurodevelopmental disorder, OMIM:620782.0, MONDO:0968945
DDG2P v6.17 CAMK2G Achchuthan Shanmugasundram edited their review of gene: CAMK2G: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CAMK2G-related intellectual developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 23033978, 30184290). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02985.; Changed phenotypes to: OMIM:618522.0, MONDO:0032795, INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522, CAMK2G-related intellectual developmental disorder
DDG2P v6.17 CACNA1H Achchuthan Shanmugasundram edited their review of gene: CACNA1H: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CACNA1H-related epilepsy, childhood absence, susceptibility to are limited, monoallelic_autosomal and undetermined (PMIDs: 12891677, 17696120). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01454.; Changed publications to: 12891677, 17696120; Changed phenotypes to: OMIM:611942.0, MONDO:0012763, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6, OMIM:611942, CACNA1H-related epilepsy, childhood absence, susceptibility to
DDG2P v6.17 CACNA1A Achchuthan Shanmugasundram edited their review of gene: CACNA1A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CACNA1A-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 11342703, 11812585, 23934111, 27476654, 28742085, 28927557, 29366381). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00626.; Changed publications to: 29366381, 11812585, 23934111, 27476654, 28927557, 11342703, 28742085; Changed phenotypes to: CACNA1A-related epileptic encephalopathy, MONDO:0014917, EPILEPTIC ENCEPHALOPATHY, OMIM:617106.0
DDG2P v6.17 C12orf57 Achchuthan Shanmugasundram edited their review of gene: C12orf57: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for C12orf57-related Temtamy syndrome; coloboma, hypoplastic corpus callosum, and intellectual disability are strong, biallelic_autosomal and undetermined (PMIDs: 23453666, 24798461). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00263.; Changed publications to: 23453666, 24798461; Changed phenotypes to: COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY, OMIM:218340, coloboma, hypoplastic corpus callosum, and intellectual disability, TEMTAMY SYNDROME, MONDO:0009033, C12orf57-related Temtamy syndrome, OMIM:218340.0
DDG2P v6.17 KIAA1109 Achchuthan Shanmugasundram edited their review of gene: KIAA1109: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BLTP1-related brain atrophy, dandy walker and contractures are strong, biallelic_autosomal and undetermined (PMIDs: 25558065, 29290337). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01979.; Changed publications to: 29290337, 25558065; Changed phenotypes to: OMIM:617822.0, BLTP1-related brain atrophy, dandy walker and contractures, MONDO:0060631, Brain atrophy, Dandy Walker and Contractures
DDG2P v6.17 BHLHA9 Achchuthan Shanmugasundram edited their review of gene: BHLHA9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BHLHA9-related mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type are definitive, biallelic_autosomal and dominant negative (PMIDs: 25466284, 29263794, 30107244, 31152918, 31912643, 34272776, 36565049). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00920. The DDG2P confidence category, allelic requirement and molecular mechanism for BHLHA9-related split hand and foot malformation are definitive, monoallelic_autosomal and undetermined (PMIDs: 22147889, 23790188). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02025.; Changed publications to: 25466284, 29263794, 34272776, 31152918, 23790188, 31912643, 22147889, 30107244, 36565049; Changed phenotypes to: BHLHA9-related split hand and foot malformation, MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE, OMIM:69432, BHLHA9-related mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type, SPLIT HAND AND FOOT MALFORMATION, OMIM:220600, OMIM:609432.0, MONDO:0012271, MONDO:0016576
DDG2P v6.17 BFSP2 Achchuthan Shanmugasundram edited their review of gene: BFSP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BFSP2-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 10634598, 10729115, 21836522). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00555.; Changed publications to: 21836522, 10729115, 10634598; Changed phenotypes to: CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED, OMIM:611597, OMIM:611597.0, MONDO:0012701, BFSP2-related cataract
DDG2P v6.17 BCORL1 Achchuthan Shanmugasundram edited their review of gene: BCORL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BCORL1-related Shukla-Vernon syndrome are limited, monoallelic_X_hemizygous and undetermined (PMIDs: 24123876, 30941876, 33810051, 34400773). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02922.; Changed publications to: 30941876, 33810051, 24123876, 34400773; Changed phenotypes to: MONDO:0026727, BCORL1-related Shukla-Vernon syndrome, OMIM:301029.0, Shukla-Vernon Syndrome
DDG2P v6.17 BANF1 Achchuthan Shanmugasundram edited their review of gene: BANF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BANF1-related Nestor-Guillermo progeria syndrome are moderate, biallelic_autosomal and loss of function (PMIDs: 21549337, 21932319, 32783369, 36039758, 36842139). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00506.; Changed publications to: 32783369, 36039758, 21932319, 36842139, 21549337; Changed phenotypes to: BANF1-related Nestor-Guillermo progeria syndrome, OMIM:614008.0, NESTOR-GUILLERMO PROGERIA SYNDROME, OMIM:614008, MONDO:0013523
DDG2P v6.17 AXIN1 Achchuthan Shanmugasundram edited their review of gene: AXIN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AXIN1-related caudal duplication anomaly are limited, monoallelic_autosomal and undetermined (PMIDs: 12376942, 16773576). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00854.; Changed publications to: 16773576, 12376942; Changed phenotypes to: CAUDAL DUPLICATION ANOMALY, OMIM:607864, AXIN1-related caudal duplication anomaly, OMIM:607864.0, MONDO:0011928
DDG2P v6.17 ATP8A2 Achchuthan Shanmugasundram edited their review of gene: ATP8A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP8A2-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 16075202, 22892528). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01367.; Changed phenotypes to: ATP8A2-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome, OMIM:615268.0, CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 4, OMIM:615268, MONDO:0014104
DDG2P v6.17 ATP6V1A Achchuthan Shanmugasundram edited their review of gene: ATP6V1A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V1A-related cutis laxa are strong, biallelic_autosomal and undetermined (PMIDs: 28065471, 33320377). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02592. The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V1A-related epileptic encephalopathy, infantile or early childhood are definitive, monoallelic_autosomal and undetermined (PMIDs: 29668857, 32045939). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02984.; Changed publications to: 28065471, 29668857, 32045939, 33320377; Changed phenotypes to: Autosomal Recessive Cutis Laxa, OMIM:617403.0, OMIM:618012.0, ATP6V1A-related epileptic encephalopathy, infantile or early childhood, MONDO:0020632, ATP6V1A-related cutis laxa, MONDO:0027451, EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3, OMIM:618012
DDG2P v6.17 ATP6V0A1 Achchuthan Shanmugasundram edited their review of gene: ATP6V0A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V0A1-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 28135719, 30842224, 33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02891.; Changed publications to: 30842224, 33057194, 28135719; Changed phenotypes to: OMIM:619970.0, MONDO:0031021, ATP6V0A1-related developmental disorder (monoallelic), ATP6V0A1-related developmental disorder
DDG2P v6.17 ATP6AP2 Achchuthan Shanmugasundram edited their review of gene: ATP6AP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6AP2-related intellectual developmental disorder with epilepsy are limited, monoallelic_X_hemizygous and undetermined (PMIDs: 15746149, 26467484, 30985297, 35779466, 38274877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01458.; Changed publications to: 35779466, 26467484, 38274877, 30985297, 15746149; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH EPILEPSY, OMIM:300423, ATP6AP2-related intellectual developmental disorder with epilepsy, MONDO:0010319, OMIM:300423.0
DDG2P v6.17 ATP5A1 Achchuthan Shanmugasundram edited their review of gene: ATP5A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia are strong, monoallelic_autosomal and undetermined (PMID:34483339). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03218. The DDG2P confidence category, allelic requirement and molecular mechanism for ATP5F1A-related mitochondrial encephalopathy are strong, biallelic_autosomal and undetermined (PMIDs: 23596069, 23599390). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03219.; Changed publications to: 34483339, 23596069, 23599390; Changed phenotypes to: ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia, ATP5F1A-related mitochondrial encephalopathy, OMIM:615228.0, OMIM:620358.0, MONDO:0014091, ATP5F1A-related mitochondrial encephalopathy, OMIM:615228, MONDO:0957254
DDG2P v6.17 ATP1A3 Achchuthan Shanmugasundram edited their review of gene: ATP1A3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP1A3-related alternating hemiplegia of childhood are strong, monoallelic_autosomal and undetermined (PMIDs: 22842232, 33880529). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01055.; Changed phenotypes to: MONDO:0013900, OMIM:614820.0, ALTERNATING HEMIPLEGIA OF CHILDHOOD, OMIM:104290, ATP1A3-related alternating hemiplegia of childhood
DDG2P v6.17 ATOH7 Achchuthan Shanmugasundram edited their review of gene: ATOH7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATOH7-related persistent hyperplastic primary vitreous are strong, biallelic_autosomal and loss of function (PMIDs: 21441919, 22068589, 22645276, 26933893, 28192794). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00770.; Changed publications to: 21441919, 26933893, 28192794, 22068589, 22645276; Changed phenotypes to: ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900, ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900.0, MONDO:0009097
DDG2P v6.17 ASH1L Achchuthan Shanmugasundram edited their review of gene: ASH1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ASH1L-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 25961944, 28394464, 29276005, 29753921, 31673123, 34373061, 35241855). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01097.; Changed publications to: 28394464, 29753921, 29276005, 35241855, 31673123, 25961944, 34373061; Changed phenotypes to: ASH1L-related intellectual disability, OMIM:617796.0, MONDO:0030918, INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v6.17 ARPC4 Achchuthan Shanmugasundram edited their review of gene: ARPC4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARPC4-related microcephaly and developmental delay are strong, monoallelic_autosomal and undetermined (PMIDs: 35047857, 36513617). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03238.; Changed publications to: 35047857, 36513617; Changed phenotypes to: OMIM:620141.0, MONDO:0859324, ARPC4-related microcephaly and developmental delay
DDG2P v6.17 ARF1 Achchuthan Shanmugasundram edited their review of gene: ARF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARF1-related periventricular nodular heterotopia are strong, monoallelic_autosomal and undetermined (PMIDs: 28868155, 33057194, 34353862). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02983.; Changed publications to: 28868155, 33057194, 34353862; Changed phenotypes to: OMIM:618185.0, PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615, MONDO:0032588, ARF1-related periventricular nodular heterotopia
DDG2P v6.17 AP1B1 Achchuthan Shanmugasundram edited their review of gene: AP1B1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AP1B1-related keratitis-ichthyosis-deafness syndrome (KIDAR) are moderate, biallelic_autosomal and undetermined (PMIDs: 31630788, 31630791, 33349978, 33452671, 35144013). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02834.; Changed rating: GREEN; Changed publications to: 31630788, 33349978, 33452671, 35144013, 31630791; Changed phenotypes to: MEDNIK-like Syndrome, AP1B1-related keratitis-ichthyosis-deafness syndrome (KIDAR), MONDO:0009440, OMIM:242150.0
DDG2P v6.17 ANO3 Achchuthan Shanmugasundram edited their review of gene: ANO3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ANO3-related dystonia are limited, monoallelic_autosomal and undetermined (PMIDs: 33502045, 38079528). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03570.; Changed publications to: 33502045, 38079528; Changed phenotypes to: OMIM:615034.0, ANO3-related dystonia, ANO3-related dystonia, OMIM:615034, MONDO:0014019
DDG2P v6.17 ANKRD26 Achchuthan Shanmugasundram edited their review of gene: ANKRD26: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ANKRD26-related thrombocytopenia are strong, monoallelic_autosomal and undetermined (PMIDs: 10521306, 21211618). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00781.; Changed phenotypes to: OMIM:188000.0, THROMBOCYTOPENIA 2, OMIM:188000, ANKRD26-related thrombocytopenia, MONDO:0008555
DDG2P v6.17 ANKRD11 Achchuthan Shanmugasundram edited their review of gene: ANKRD11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ANKRD11-related KBG syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 21782149, 23184435, 23494856, 25424714, 25464108, 25543316, 25652421, 25838844, 26269249, 27667800, 27900361, 28250421, 28449295, 28566769, 28815928, 29224748, 30088855, 30877071, 31566922, 32820523, 33262785, 33354850, 33476899, 33653342, 33955014, 34247373, 34547584, 35394473, 35598261, 35682590, 35833929, 36584991, 36628575, 37665295). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00381.; Changed publications to: 25543316, 31566922, 28250421, 37665295, 29224748, 23184435, 36628575, 34547584, 25652421, 28449295, 25464108, 30088855, 33354850, 33955014, 28815928, 21782149, 25424714, 35682590, 35833929, 25838844, 36584991, 23494856, 33262785, 32820523, 35394473, 34247373, 27667800, 33653342, 30877071, 26269249, 28566769, 33476899, 27900361, 35598261; Changed phenotypes to: OMIM:148050.0, KBG SYNDROME, OMIM:148050, ANKRD11-related KBG syndrome, MONDO:0007846
DDG2P v6.17 ALPL Achchuthan Shanmugasundram edited their review of gene: ALPL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALPL-related hypophosphatasia are definitive, biallelic_autosomal and loss of function (PMIDs: 14982838, 3174660, 33093890, 33101980, 33160095). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00284.; Changed publications to: 33101980, 33160095, 14982838, 3174660, 33093890; Changed phenotypes to: MONDO:0018570, HYPOPHOSPHATASIA, OMIM:241500, ALPL-related hypophosphatasia
DDG2P v6.17 ALG13 Achchuthan Shanmugasundram edited their review of gene: ALG13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALG13-related congenital disorder of glycosylation are strong, monoallelic_X_heterozygous and undetermined (PMIDs: 22492991, 23934111, 28887793). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01271.; Changed publications to: 28887793, 23934111, 22492991; Changed phenotypes to: OMIM:300884.0, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS, OMIM:300884, MONDO:0010472, ALG13-related congenital disorder of glycosylation
DDG2P v6.17 ALDOA Achchuthan Shanmugasundram edited their review of gene: ALDOA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALDOA-related glycogen storage disease are definitive, biallelic_autosomal and undetermined (PMIDs: 2825199, 8598869). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00859.; Changed publications to: 8598869, 2825199; Changed phenotypes to: ALDOA-related glycogen storage disease, MONDO:0012747, OMIM:611881.0, GLYCOGEN STORAGE DISEASE XII, OMIM:611881
DDG2P v6.17 AKT3 Achchuthan Shanmugasundram edited their review of gene: AKT3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AKT3-related hemimegalencephaly are strong, monoallelic_autosomal and undetermined (PMIDs: 22500628, 22729224). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01092.; Changed phenotypes to: AKT3-related hemimegalencephaly, OMIM:603387.0, HEMIMEGALENCEPHALY AKT3, OMIM:603387, MONDO:0011313
DDG2P v6.17 AKT2 Achchuthan Shanmugasundram edited their review of gene: AKT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy are definitive, monoallelic_autosomal and undetermined (PMIDs: 21979934, 24285683, 26003998, 28541532). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03220.; Changed publications to: 21979934, 26003998, 24285683, 28541532; Changed phenotypes to: MONDO:0009416, AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900.0, AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900
DDG2P v6.17 AIFM1 Achchuthan Shanmugasundram edited their review of gene: AIFM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AIFM1-related combined oxidative phosphorylation deficiency are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 20362274, 23217327). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01641.; Changed phenotypes to: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, OMIM:300816, OMIM:300816.0, AIFM1-related combined oxidative phosphorylation deficiency
DDG2P v6.17 AGPS Achchuthan Shanmugasundram edited their review of gene: AGPS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AGPS-related rhizomelic chondrodysplasia punctata are definitive, biallelic_autosomal and loss of function (PMIDs: 11152660, 21990100, 24849933, 35986576, 7807941). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00018.; Changed publications to: 7807941, 21990100, 35986576, 11152660, 24849933; Changed phenotypes to: MONDO:0010823, OMIM:600121.0, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3, OMIM:600121, AGPS-related rhizomelic chondrodysplasia punctata
DDG2P v6.17 AFG3L2 Achchuthan Shanmugasundram edited their review of gene: AFG3L2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AFG3L2-related ataxia and seizures are definitive, biallelic_autosomal and loss of function (PMIDs: 22022284, 28449981, 31111429, 32237276, 32248051). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03166.; Changed rating: GREEN; Changed publications to: 22022284, 32237276, 31111429, 32248051, 28449981; Changed phenotypes to: MONDO:0013776, AFG3L2-related ataxia and seizures, OMIM:614487.0, AFG3L2-related ataxia and seizures, OMIM:614487
DDG2P v6.17 AFF3 Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AFF3-related KINSSHIP syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 33961779, 36576140, 38811945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01978. The DDG2P confidence category, allelic requirement and molecular mechanism for AFF3-related intellectual disability are moderate, monoallelic_autosomal and undetermined (PMID:38811945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03581.; Changed publications to: 33961779, 38811945, 36576140; Changed phenotypes to: AFF3-related intellectual disability, MONDO:0001071, AFF3-related KINSSHIP syndrome, OMIM:619297, AFF3-related KINSSHIP syndrome, OMIM:619297.0, MONDO:0851095
DDG2P v6.17 ADSL Achchuthan Shanmugasundram edited their review of gene: ADSL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADSL-related adenylosuccinase deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 10090474, 12016589, 18830228, 6150139, 9545543). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00673.; Changed publications to: 9545543, 6150139, 18830228, 12016589, 10090474; Changed phenotypes to: ADSL-related adenylosuccinase deficiency, ADENYLOSUCCINASE DEFICIENCY, OMIM:103050, OMIM:103050.0
DDG2P v6.17 ADAMTS18 Achchuthan Shanmugasundram edited their review of gene: ADAMTS18: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADAMTS18-related microcornea, myopic chorioretinal atrophy, and telecanthus are definitive, biallelic_autosomal and loss of function (PMIDs: 22686506, 23818446, 24874986). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02048.; Changed phenotypes to: Microcornea, myopic chorioretinal atrophy, and telecanthus, OMIM:615458, OMIM:615458.0, MONDO:0014195, ADAMTS18-related microcornea, myopic chorioretinal atrophy, and telecanthus
DDG2P v6.17 ACVR2B Achchuthan Shanmugasundram edited their review of gene: ACVR2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACVR2B-related heterotaxy syndrome are limited, monoallelic_autosomal and undetermined (PMIDs: 21864452, 30622330, 9916847). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00465.; Changed publications to: 30622330, 21864452, 9916847; Changed phenotypes to: OMIM:613751.0, MONDO:0013403, HETEROTAXY SYNDROME, OMIM:207574, ACVR2B-related heterotaxy syndrome
DDG2P v6.17 ACTC1 Achchuthan Shanmugasundram edited their review of gene: ACTC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACTC1-related distal arthrogryposis with congenital heart disease are moderate, monoallelic_autosomal and loss of function (PMIDs: 37457373, 38278647). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03543.; Changed publications to: 37457373, 38278647
DDG2P v6.17 ACBD6 Achchuthan Shanmugasundram edited their review of gene: ACBD6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACBD6-related intellectual developmental disorder are strong, biallelic_autosomal and loss of function (PMIDs: 21937992, 26748517, 36457943, 37951597). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00748.; Changed rating: GREEN; Changed publications to: 26748517, 21937992, 36457943, 37951597; Changed phenotypes to: ACBD6-related intellectual developmental disorder, MONDO:0968976, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:620785.0
DDG2P v6.17 ABCC9 Achchuthan Shanmugasundram edited their review of gene: ABCC9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ABCC9-related Cantu Syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 22608503, 22610116, 30089727, 31175705, 31828977, 33529173, 34453476). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03442. The DDG2P confidence category, allelic requirement and molecular mechanism for ABCC9-related intellectual disability, myopathy and white matter abnormalities are moderate, biallelic_autosomal and loss of function (PMIDs: 31575858, 38217872). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03920.; Changed publications to: 31175705, 34453476, 31575858, 30089727, 31828977, 22608503, 33529173, 22610116, 38217872; Changed phenotypes to: OMIM:619719.0, MONDO:0009406, MONDO:0859224, CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, OMIM:239850, ABCC9-related intellectual disability, myopathy and white matter abnormalities, OMIM:239850.0, ABCC9-related Cantu Syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.17 ABCB7 Achchuthan Shanmugasundram edited their review of gene: ABCB7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ABCB7-related anemia, sideroblastic, with ataxia are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 10196363, 11843825, 22398176, 26242992, 34354969). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00928.; Changed publications to: 10196363, 26242992, 22398176, 11843825, 34354969; Changed phenotypes to: ABCB7-related anemia, sideroblastic, with ataxia, OMIM:301310.0, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, OMIM:301310
DDG2P v3.73 FBN1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394; 27582083; 31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751; 8504310; 1631074; 7611299; 21594993; 7762551; 18412115; 1301946; 15287423; 15032979; 8430317; 8040326; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 7911051; 20979188; 8281141; 1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751; 8504310; 1631074; 7611299; 7762551; 21594993; 18412115; 1301946; 15032979; 15287423; 8430317; 8040326; 8071963; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 23103230; 23023332; 17568394; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 8281141; 20979188; 7911051; 16333834; 1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).; to: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394; 27582083; 31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751; 8504310; 1631074; 7611299; 21594993; 7762551; 18412115; 1301946; 15287423; 15032979; 8430317; 8040326; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 7911051; 20979188; 8281141; 1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751; 8504310; 1631074; 7611299; 7762551; 21594993; 18412115; 1301946; 15032979; 15287423; 8430317; 8040326; 8071963; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 23103230; 23023332; 17568394; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 8281141; 20979188; 7911051; 16333834; 1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539; 23897642).
DDG2P v3.73 FBN1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394;27582083;31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751;8504310;1631074;7611299;21594993;7762551;18412115;1301946;15287423;15032979;8430317;8040326;8101042;9101298;8406497;11175294;10766875;17492313;21594992;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188;8281141;1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751;8504310;1631074;7611299;7762551;21594993;18412115;1301946;15032979;15287423;8430317;8040326;8071963;8101042;9101298;8406497;11175294;10766875;17492313;21594992;23103230;23023332;17568394;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;8281141;20979188;7911051;16333834;1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).; to: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394; 27582083; 31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751; 8504310; 1631074; 7611299; 21594993; 7762551; 18412115; 1301946; 15287423; 15032979; 8430317; 8040326; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 7911051; 20979188; 8281141; 1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751; 8504310; 1631074; 7611299; 7762551; 21594993; 18412115; 1301946; 15032979; 15287423; 8430317; 8040326; 8071963; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 23103230; 23023332; 17568394; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 8281141; 20979188; 7911051; 16333834; 1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).
DDG2P v3.61 TWIST2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26119818). The DDG2P confidence category for the disease SETLEIS SYNDROME, OMIM:227260 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 21931173;8818454;14069095).; to: The DDG2P confidence category for the disease ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26119818).

The DDG2P confidence category for the disease SETLEIS SYNDROME, OMIM:227260 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 21931173;8818454;14069095).
DDG2P v3.59 SPTBN2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Infantile ataxia with oculomotor and pyramidal signs is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 29795474;25981959;22914369). The DDG2P confidence category for the disease SCA14 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease Infantile ataxia with oculomotor and pyramidal signs is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 29795474;25981959;22914369).

The DDG2P confidence category for the disease SCA14 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.
DDG2P v3.58 SIX1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10777717;12843324;15141091;17637804). The DDG2P confidence category for the disease Non-syndromic craniosynostosis is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10777717;12843324;15141091;17637804).

The DDG2P confidence category for the disease Non-syndromic craniosynostosis is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.
DDG2P v3.54 MYH3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Recessive Spondylocarpotarsal Synostosis Syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:29805041). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 18695058;16642020).; to: The DDG2P confidence category for the disease Recessive Spondylocarpotarsal Synostosis Syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:29805041).

The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 18695058;16642020).
DDG2P v3.52 MITF Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27889061). The DDG2P confidence category for the disease TIETZ SYNDROME, OMIM:103500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 8589691;10851256). The DDG2P confidence category for the disease WAARDENBURG SYNDROME TYPE 2A, OMIM:193510 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 9158138;8589691;9856573;7874167;8490648).; to: The DDG2P confidence category for the disease Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27889061).

The DDG2P confidence category for the disease TIETZ SYNDROME, OMIM:103500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 8589691;10851256).

The DDG2P confidence category for the disease WAARDENBURG SYNDROME TYPE 2A, OMIM:193510 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 9158138;8589691;9856573;7874167;8490648).
DDG2P v3.49 LRP2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DONNAI-BARROW SYNDROME, OMIM:222448 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 19577669;17632512;23992033;29388841). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY, OMIM:616579 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:23033978).; to: The DDG2P confidence category for the disease DONNAI-BARROW SYNDROME, OMIM:222448 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 19577669;17632512;23992033;29388841).

The DDG2P confidence category for the disease INTELLECTUAL DISABILITY, OMIM:616579 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:23033978).
DDG2P v3.46 ITPR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Gillespie Syndrome, OMIM:206700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27108797). The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27062503;22986007). The DDG2P confidence category for the disease Gillespie Syndrome, monoallelic, OMIM:206700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27108798;27108797).; to: The DDG2P confidence category for the disease Gillespie Syndrome, OMIM:206700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27108797).

The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27062503;22986007).

The DDG2P confidence category for the disease Gillespie Syndrome, monoallelic, OMIM:206700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27108798;27108797).
DDG2P v3.43 GJA1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:11470490). The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 12457340;16816024). The DDG2P confidence category for the disease AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 4209752;15108203;7815444;17256797;21670345;15551259;12457340;2309863;16709485). The DDG2P confidence category for the disease SYNDACTYLY TYPE 3, OMIM:186100 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:2157843). The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 14974090;14981729).; to: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:11470490).

The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 12457340;16816024).

The DDG2P confidence category for the disease AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 4209752;15108203;7815444;17256797;21670345;15551259;12457340;2309863;16709485).

The DDG2P confidence category for the disease SYNDACTYLY TYPE 3, OMIM:186100 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:2157843).

The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 14974090;14981729).
DDG2P v3.42 FBN1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394;27582083;31950671). The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751;8504310;1631074;7611299;21594993;7762551;18412115;1301946;15287423;15032979;8430317;8040326;8101042;9101298;8406497;11175294;10766875;17492313;21594992;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188;8281141;1852208). The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751;8504310;1631074;7611299;7762551;21594993;18412115;1301946;15032979;15287423;8430317;8040326;8071963;8101042;9101298;8406497;11175294;10766875;17492313;21594992;23103230;23023332;17568394;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;8281141;20979188;7911051;16333834;1852208). The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).; to: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394;27582083;31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751;8504310;1631074;7611299;21594993;7762551;18412115;1301946;15287423;15032979;8430317;8040326;8101042;9101298;8406497;11175294;10766875;17492313;21594992;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188;8281141;1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751;8504310;1631074;7611299;7762551;21594993;18412115;1301946;15032979;15287423;8430317;8040326;8071963;8101042;9101298;8406497;11175294;10766875;17492313;21594992;23103230;23023332;17568394;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;8281141;20979188;7911051;16333834;1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).
DDG2P v3.33 MYH8 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353).

The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.33 KCNE1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 30461122). The DDG2P confidence category for the disease LONG QT SYNDROME-5, OMIM:613695 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 30461122).

The DDG2P confidence category for the disease LONG QT SYNDROME-5, OMIM:613695 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.32 KARS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease KARS1-related leukoencephalopathy with or without deafness, OMIM:619147 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 20920668). The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 23768514).; to: The DDG2P confidence category for the disease KARS1-related leukoencephalopathy with or without deafness, OMIM:619147 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 20920668).

The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 23768514).
DDG2P v3.31 CLN6 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11791207;15996215;11727201). The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11791207;15996215;11727201).

The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.30 AR Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively.
DDG2P v3.29 SMAD4 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease MYHRE SYNDROME, OMIM:139210 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease MYHRE SYNDROME, OMIM:139210 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
DDG2P v3.29 BGN Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Severe syndromic form of thoracic aortic aneurysm & dissection is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: 34807424;27632686). The DDG2P confidence category for the disease X-Linked Spondyloepimetaphyseal Dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:27236923).; to: The DDG2P confidence category for the disease Severe syndromic form of thoracic aortic aneurysm & dissection is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: 34807424;27632686).

The DDG2P confidence category for the disease X-Linked Spondyloepimetaphyseal Dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:27236923).
DDG2P v3.28 ANO5 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.
DDG2P v3.27 TGFB2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.25 SPTLC2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.24 PLA2G6 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.23 LDB3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.22 KRIT1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.21 HSPD1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.21 GBA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.21 COL4A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PORENCEPHALY 2, OMIM:614483 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease PORENCEPHALY 2, OMIM:614483 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.21 COL4A1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PORENCEPHALY 1, OMIM:175780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease PORENCEPHALY 1, OMIM:175780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.21 ATP13A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PARKINSON DISEASE 9, OMIM:606693 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease PARKINSON DISEASE 9, OMIM:606693 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.18 SUFU Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SUFU-related Joubert and congenital ocular motor apraxia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 33024317;34675124). This gene-disease association is typified by reduced penetrance. The DDG2P confidence category for the disease Joubert Syndrome with Cranio-facial and Skeletal Defects is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28965847).; to: The DDG2P confidence category for the disease SUFU-related Joubert and congenital ocular motor apraxia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 33024317;34675124). This gene-disease association is typified by reduced penetrance.

The DDG2P confidence category for the disease Joubert Syndrome with Cranio-facial and Skeletal Defects is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28965847).
DDG2P v3.16 ATP1A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:33493807). The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964). The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).; to: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:33493807).

The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964).

The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).
DDG2P v3.16 SARS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817).; to: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339).

The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817).
DDG2P v3.15 SCN11A Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease CONGENITAL INABILITY TO EXPERIENCE PAIN is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24036948).; to: The DDG2P confidence category for the disease EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease CONGENITAL INABILITY TO EXPERIENCE PAIN is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24036948).
DDG2P v3.14 COL4A3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11134255;9269635). The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 7987396;7633417;9792860;7987301).; to: The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11134255;9269635).

The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 7987396;7633417;9792860;7987301).
DDG2P v3.14 FGFR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Encephalocraniocutaneous lipomatosis, OMIM:613001 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26942290). The DDG2P confidence category for the disease Hartsfield syndrome, OMIM:615465 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23812909). The DDG2P confidence category for the disease PFEIFFER SYNDROME, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10945669;9586546;7719345;9002682;8841188;8434615;10394936;15523615;7874169;11807866;9150725). The DDG2P confidence category for the disease OSTEOGLOPHONIC DYSPLASIA, OMIM:166250 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 15625620;7422392). The DDG2P confidence category for the disease Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 16606836;18596921;16882753;10690855;23643382;17235395;16418210;17360555;12627230).; to: The DDG2P confidence category for the disease Encephalocraniocutaneous lipomatosis, OMIM:613001 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:26942290).

The DDG2P confidence category for the disease Hartsfield syndrome, OMIM:615465 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23812909).

The DDG2P confidence category for the disease PFEIFFER SYNDROME, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10945669;9586546;7719345;9002682;8841188;8434615;10394936;15523615;7874169;11807866;9150725).

The DDG2P confidence category for the disease OSTEOGLOPHONIC DYSPLASIA, OMIM:166250 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 15625620;7422392).

The DDG2P confidence category for the disease Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 16606836;18596921;16882753;10690855;23643382;17235395;16418210;17360555;12627230).
DDG2P v3.14 PTEN Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and typically mosaic (PMIDs: 12471211;16704655;11476841). The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).; to: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and typically mosaic respectively (PMIDs: 12471211;16704655;11476841).

The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).
DDG2P v3.14 PTEN Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 12471211;16704655;11476841). The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).; to: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and typically mosaic (PMIDs: 12471211;16704655;11476841). The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).
DDG2P v3.14 SYNE1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.14 GJB3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.14 LMNA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060).

The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively.; to: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060).

The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively.
DDG2P v3.14 LMNA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060). The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060).

The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively.
DDG2P v3.14 GNAS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/). The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 1594625;15126527;1944469). The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070).; to: The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/).

The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic (PMIDs: 1594625;15126527;1944469).

The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070).
DDG2P v3.14 ATP1A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:33493807). The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964). The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).; to: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:33493807). The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964). The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).
DDG2P v3.14 SARS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:36041817).; to: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817).
DDG2P v3.14 FMR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_het, uncertain and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease FRAGILE X SYNDROME, OMIM:300624 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.; to: The DDG2P confidence category for the disease FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_het, uncertain and potential IF respectively. The DDG2P confidence category for the disease FRAGILE X SYNDROME, OMIM:300624 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.
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 v3.11 IDS Achchuthan Shanmugasundram Publications for gene: IDS were updated from 1639384; 1303211; 7581397; 1355630; 1550586; 12794697; 1284597; 8940265; 8364592 to 1550586; 1303211; 1284597; 8364592; 7581397; 1355630; 8940265; 12794697; 1639384
DDG2P 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 v0.2 IDS Rebecca Foulger reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 IDS Rebecca Foulger gene: IDS was added
gene: IDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 1639384; 1303211; 7581397; 1355630; 1550586; 12794697; 1284597; 8940265; 8364592
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2 309900