Activity
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| DDG2P v6.449 | ATXN7L3 | Ida Ertmanska Phenotypes for gene: ATXN7L3 were changed from ATXN7L3-related developmental delay, hypotonia and facial dysmorphism to ATXN7L3-related developmental delay, hypotonia and facial dysmorphism; Harel-Tora neurodevelopmental syndrome, OMIM:621377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.446 | KLHL20 | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 20 Mar 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.446 | KLHL20 | Ida Ertmanska Phenotypes for gene: KLHL20 were changed from KLHL20-related developmental disorder with seizures to KLHL20-related developmental disorder with seizures; Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.445 | KDM2B | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 20 Mar 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.445 | KDM2B | Ida Ertmanska Phenotypes for gene: KDM2B were changed from KDM2B-related neurodevelopmental disorder to KDM2B-related neurodevelopmental disorder; Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, OMIM:621474 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.444 | HPDL | Ida Ertmanska Phenotypes for gene: HPDL were changed from HPDL Neurodegenerative Disease to HPDL Neurodegenerative Disease; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026 Spastic paraplegia 83, autosomal recessive OMIM:619027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.443 | WDR83OS | Arina Puzriakova Phenotypes for gene: WDR83OS were changed from MONDO:0975877; WDR83OS-related neurodevelopmental disorder with hypercholanemia to neurodevelopmental disorder with variable familial hypercholanemia, MONDO:0975877; WDR83OS-related neurodevelopmental disorder with hypercholanemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.442 | IKZF2 | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotypes updated 20 Mar 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.442 | IKZF2 | Ida Ertmanska Phenotypes for gene: IKZF2 were changed from IKZF2-related ICHAD syndrome to Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233; Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.439 | FRYL | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype added 20 Mar 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.438 | FEM1B | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 19 Mar 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.438 | FEM1B | Ida Ertmanska Phenotypes for gene: FEM1B were changed from FEM1B-related neurodevelopmental disorder with or without brain abnormalities to Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539; FEM1B-related neurodevelopmental disorder with or without brain abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.437 | DOT1L | Ida Ertmanska Phenotypes for gene: DOT1L were changed from DOT1L-related neurodevelopmental disorder with intracranial anomalies to Nil-Deshwar neurodevelopmental syndrome, OMIM:621265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.432 | RNU5B-1 | Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU5B-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.426 | KDM5B |
Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Both monoallelic and biallelic variants in this gene have been associated with KDM5B-related neurodevelopmental disorder with Strong rating on the DD panel of Gene2Phenotype resource. Biallelic KDM5B variants have been associated with relevant phenotype in OMIM (MIM #618109) and the record was accessed on 12 March 2026. |
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| DDG2P v6.425 | KDM5B |
Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Both monoallelic and biallelic variants in this gene have been associated with KDM5B-related neurodevelopmental disorder with Strong rating on the DD panel of Gene2Phenotype resource. Biallelic KDM5B variants have been associated with relevant phenotype in OMIM (MIM #618109) and the record was accessed on 12 March 2026. |
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| DDG2P v6.361 | SPARC | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPARC was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.352 | SMARCE1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCE1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.352 | SMARCD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCD1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.351 | SMARCA2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCA2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.329 | SARS2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SARS2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.328 | SARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SARS was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.311 | QARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene: QARS was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.304 | PRKAR1B | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKAR1B was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.282 | PARP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PARP1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.231 | LARS2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LARS2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.194 | HARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HARS was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.131 | DARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DARS was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.56 | ARPC4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARPC4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.55 | ARL3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARL3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.54 | ARL14EP | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARL14EP was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.53 | ARF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARF1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.29 | ADARB1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADARB1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SARS | Achchuthan Shanmugasundram Tag de novo tag was added to gene: SARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ZNF335 | Achchuthan Shanmugasundram reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: ; Publications: 40583037, 27540107, 29652087, 31187448, 23178126, 38549403, 34982360, 33216650; Phenotypes: OMIM:615095.0, MONDO:0014043, ZNF335-related microcephaly, epilepsy, cerebral and/or cerebellar atrophy and short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UNC13A | Achchuthan Shanmugasundram reviewed gene: UNC13A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36447687, 41125872, 28192369, 27648472; Phenotypes: UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements, UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder, MONDO:0100038; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SPTSSA | Achchuthan Shanmugasundram reviewed gene: SPTSSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 36718090; Phenotypes: MONDO:0957308, OMIM:620416.0, SPTSSA-related complex hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SNUPN | Achchuthan Shanmugasundram reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 38413582, 38366623; Phenotypes: SNUPN-related muscular dystrophy with or without multi-system involvement, MONDO:0971171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC39A14 | Achchuthan Shanmugasundram reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: ; Publications: 36138644, 27231142, 36247901; Phenotypes: MONDO:0014864, SLC39A14-related early onset dystonia parkinsonism, OMIM:617013.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RREB1 | Achchuthan Shanmugasundram reviewed gene: RREB1: Rating: RED; Mode of pathogenicity: ; Publications: 40418122, 38332451; Phenotypes: RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RCC1 | Achchuthan Shanmugasundram reviewed gene: RCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40683276; Phenotypes: RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RBCK1 | Achchuthan Shanmugasundram reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38922716, 38588043, 35017290, 38329383, 23798481, 38077957, 32187699; Phenotypes: RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency, MONDO:0014389, OMIM:615895.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PLXNB2 | Achchuthan Shanmugasundram reviewed gene: PLXNB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38458752; Phenotypes: PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PLD1 | Achchuthan Shanmugasundram reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33645542, 39681445, 37770978, 27799408, 39553471; Phenotypes: MONDO:0008913, OMIM:212093.0, PLD1-related cardiac valvular dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PISD | Achchuthan Shanmugasundram reviewed gene: PISD: Rating: RED; Mode of pathogenicity: ; Publications: 31263216, 30858161, 30488656, 38801004; Phenotypes: OMIM:618889.0, MONDO:0030045, PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PARS2 | Achchuthan Shanmugasundram reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29410512, 29915213, 25629079, 39253392, 37956963, 38469956, 38087948, 28077841, 32514400; Phenotypes: OMIM:618437.0, PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy, MONDO:0032752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NUP188 | Achchuthan Shanmugasundram reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 32275884, 32021605; Phenotypes: NUP188-related neurodegeneration, cataracts and facial dysmorphisms, OMIM:618804.0, MONDO:0032926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NUDCD2 | Achchuthan Shanmugasundram reviewed gene: NUDCD2: Rating: RED; Mode of pathogenicity: ; Publications: 37272762; Phenotypes: NUDCD2-related brain and cardiac malformations with cholestasis and renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MARK4 | Achchuthan Shanmugasundram reviewed gene: MARK4: Rating: RED; Mode of pathogenicity: Other; Publications: 38041405; Phenotypes: MONDO:0700092, MARK4-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MAP3K20 | Achchuthan Shanmugasundram reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: ; Publications: 27816943, 38451290, 32021595, 26755636; Phenotypes: MONDO:0054695, MAP3K20-related split-foot malformation with mesoaxial polydactyly, MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies, MAP3K20-related centronuclear myopathy, OMIM:616890.0, MONDO:0014816, OMIM:617760.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KNL1 | Achchuthan Shanmugasundram reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26621532, 22983954, 26626498, 27149178, 27784895, 37937525; Phenotypes: OMIM:604321.0, KNL1-related primary microcephaly, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HEATR5B | Achchuthan Shanmugasundram reviewed gene: HEATR5B: Rating: RED; Mode of pathogenicity: ; Publications: 38622473, 33824466; Phenotypes: HEATR5B-related pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GTF3C5 | Achchuthan Shanmugasundram reviewed gene: GTF3C5: Rating: GREEN; Mode of pathogenicity: ; Publications: 38520561; Phenotypes: MONDO:0100038, GTF3C5-related neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GTF3C3 | Achchuthan Shanmugasundram reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39636576; Phenotypes: GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy, MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GSC | Achchuthan Shanmugasundram reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: ; Publications: 24290375; Phenotypes: OMIM:602471.0, MONDO:0011227, GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF3B | Achchuthan Shanmugasundram reviewed gene: EIF3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 41033306; Phenotypes: EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF3A | Achchuthan Shanmugasundram reviewed gene: EIF3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 41033306; Phenotypes: MONDO:0100038, EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CIAO1 | Achchuthan Shanmugasundram reviewed gene: CIAO1: Rating: RED; Mode of pathogenicity: ; Publications: 38411040, 38950322; Phenotypes: CIAO1-related neuromuscular disorder with intellectual disability, MONDO:0975806; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CELSR3 | Achchuthan Shanmugasundram reviewed gene: CELSR3: Rating: RED; Mode of pathogenicity: ; Publications: 38429302; Phenotypes: MONDO:0100038, CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ADAMTS19 | Achchuthan Shanmugasundram reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: ; Publications: 32323311, 31844321; Phenotypes: ADAMTS19-related cardiac valvular dysplasia, OMIM:620067.0, MONDO:0859572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ADAMTS15 | Achchuthan Shanmugasundram reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: ; Publications: 35962790; Phenotypes: ADAMTS15-related distal arthrogryposis, OMIM:620545.0, MONDO:0957819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ZSCAN10 | Achchuthan Shanmugasundram commented on gene: ZSCAN10: The DDG2P confidence category, allelic requirement and molecular mechanism for ZSCAN10-related neurodevelopmental disorder with oto-facial malformations are moderate, biallelic_autosomal and loss of function (PMID:38386308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03562. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ZNF713 | Achchuthan Shanmugasundram edited their review of gene: ZNF713: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZNF713-related autism are limited, monoallelic_autosomal and undetermined (PMID:25196122). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01264.; Changed phenotypes to: AUTISM, OMIM:209850, OMIM:209850.0, MONDO:0005260, ZNF713-related autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ZNF526 | Achchuthan Shanmugasundram edited their review of gene: ZNF526: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZNF526-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00665.; Changed phenotypes to: ZNF526-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0859251, OMIM:619877.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ZMYND8 | Achchuthan Shanmugasundram edited their review of gene: ZMYND8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZMYND8-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:35916866). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03372.; Changed phenotypes to: ZMYND8-related neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CYHR1 | Achchuthan Shanmugasundram edited their review of gene: CYHR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZFTRAF1-related neurodevelopmental disorder are limited, biallelic_autosomal and loss of function (PMID:38641995). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03563.; Changed phenotypes to: ZFTRAF1-related neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ZBTB47 | Achchuthan Shanmugasundram commented on gene: ZBTB47: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures are limited, monoallelic_autosomal and undetermined (PMID:38327012). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03548. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ZBTB16 | Achchuthan Shanmugasundram edited their review of gene: ZBTB16: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:18611983). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00630.; Changed publications to: 18611983; Changed phenotypes to: MONDO:0012909, OMIM:612447.0, ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder, SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:612447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | YWHAZ | Achchuthan Shanmugasundram commented on gene: YWHAZ: The DDG2P confidence category, allelic requirement and molecular mechanism for YWHAZ-related developmental delay with simplified gyral pattern are limited, monoallelic_autosomal and undetermined (PMID:36001342). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03510. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | WNT4 | Achchuthan Shanmugasundram edited their review of gene: WNT4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT4-related SERKAL syndrome are strong, biallelic_autosomal and undetermined (PMID:18179883). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00183. The DDG2P confidence category, allelic requirement and molecular mechanism for WNT4-related mullerian aplasia and hyperandrogenism are strong, monoallelic_autosomal and undetermined (PMID:15317892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01570.; Changed phenotypes to: SERKAL SYNDROME, OMIM:611812, MONDO:0012734, WNT4-related mullerian aplasia and hyperandrogenism, MONDO:0008019, OMIM:611812.0, MULLERIAN APLASIA AND HYPERANDROGENISM, OMIM:158330, OMIM:158330.0, WNT4-related SERKAL syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | WDR81 | Achchuthan Shanmugasundram edited their review of gene: WDR81: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR81-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome are limited, biallelic_autosomal and undetermined (PMID:21885617). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01695.; Changed phenotypes to: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 2, OMIM:610185, OMIM:610185.0, MONDO:0012430, WDR81-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | WDR5 | Achchuthan Shanmugasundram edited their review of gene: WDR5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR5-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:36408368). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03417.; Changed phenotypes to: WDR5-related neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | WDR11 | Achchuthan Shanmugasundram edited their review of gene: WDR11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR11-related intellectual disability and microcephaly are strong, biallelic_autosomal and loss of function (PMID:34413497). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03182.; Changed phenotypes to: WDR11-associated intellectual disability and microcephaly, WDR11-related intellectual disability and microcephaly, OMIM:620237.0, MONDO:0859373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | VANGL1 | Achchuthan Shanmugasundram edited their review of gene: VANGL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VANGL1-related neural tube defects are limited, monoallelic_autosomal and undetermined (PMID:17409324). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00383.; Changed phenotypes to: VANGL1-related neural tube defects, MONDO:0020705, OMIM:182940.0, NEURAL TUBE DEFECTS, OMIM:182940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | VAMP2 | Achchuthan Shanmugasundram edited their review of gene: VAMP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VAMP2-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:30929742). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02785.; Changed phenotypes to: INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0032900, VAMP2-related intellectual disability, OMIM:618760.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | VAC14 | Achchuthan Shanmugasundram edited their review of gene: VAC14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VAC14-related progressive neurological disorder and regression of developmental milestones are limited, biallelic_autosomal and undetermined (PMID:27292112). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01753.; Changed phenotypes to: Progressive neurological disorder and regression of developmental milestones, VAC14-related progressive neurological disorder and regression of developmental milestones | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UTP4 | Achchuthan Shanmugasundram edited their review of gene: UTP4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UTP4-related North American Indian childhood cirrhosis are limited, biallelic_autosomal and undetermined (PMID:12417987). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01510.; Changed phenotypes to: MONDO:0011497, UTP4-related North American Indian childhood cirrhosis, NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS, OMIM:205306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | UQCRQ | Achchuthan Shanmugasundram edited their review of gene: UQCRQ: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UQCRQ-related mitochondrial respiratory chain complex III deficiency are strong, biallelic_autosomal and undetermined (PMID:18439546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01004.; Changed publications to: 18439546; Changed phenotypes to: MONDO:0014065, OMIM:615159.0, UQCRQ-related mitochondrial respiratory chain complex III deficiency, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED, OMIM:319211 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UNC45B | Achchuthan Shanmugasundram edited their review of gene: UNC45B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UNC45B-related progressive myopathy with eccentric cores are strong, biallelic_autosomal and undetermined (PMID:33217308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03074.; Changed phenotypes to: UNC45B-associated Progressive Myopathy with Eccentric Cores, UNC45B-related progressive myopathy with eccentric cores, OMIM:619178.0, MONDO:0030927 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UHRF1 | Achchuthan Shanmugasundram edited their review of gene: UHRF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome are limited, biallelic_autosomal and undetermined (PMID:36458887). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03457.; Changed phenotypes to: MONDO:0000133, UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UFSP2 | Achchuthan Shanmugasundram edited their review of gene: UFSP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UFSP2-related developmental delay and epilepsy are limited, biallelic_autosomal and undetermined (PMID:33473208). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03164.; Changed phenotypes to: OMIM:620028.0, UFSP2-related developmental delay and epilepsy, MONDO:0031052, UFSP2-associated developmental delay and epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UFC1 | Achchuthan Shanmugasundram edited their review of gene: UFC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UFC1-related severe early-onset encephalopathy with progressive microcephaly are definitive, biallelic_autosomal and undetermined (PMID:29868776). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02544.; Changed phenotypes to: MONDO:0060752, UFC1-related severe early-onset encephalopathy with progressive microcephaly, OMIM:618076.0, Severe early-onset encephalopathy with progressive microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TUFM | Achchuthan Shanmugasundram edited their review of gene: TUFM: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUFM-related combined oxidative phosphorylation deficiency are strong, biallelic_autosomal and undetermined (PMID:17160893). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01108.; Changed phenotypes to: TUFM-related combined oxidative phosphorylation deficiency, OMIM:610678.0, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OMIM:610678, MONDO:0012534 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TUBGCP2 | Achchuthan Shanmugasundram edited their review of gene: TUBGCP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBGCP2-related microcephaly and lissencephaly spectrum disorders are strong, biallelic_autosomal and undetermined (PMID:31630790). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02836.; Changed phenotypes to: TUBGCP2-related microcephaly and lissencephaly spectrum disorders, MONDO:0032893, Microcephaly and Lissencephaly Spectrum Disorders, OMIM:618737.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TUBG1 | Achchuthan Shanmugasundram edited their review of gene: TUBG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBG1-related posteriorly predominant pachygyria and severe microcephaly are strong, monoallelic_autosomal and undetermined (PMID:23603762). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02358.; Changed phenotypes to: Posteriorly predominant pachygyria and severe microcephaly, TUBG1-related posteriorly predominant pachygyria and severe microcephaly, OMIM:615412.0, MONDO:0014171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TUBB2A | Achchuthan Shanmugasundram edited their review of gene: TUBB2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB2A-related cortical dysplasia, complex, with other brain malformations are definitive, monoallelic_autosomal and undetermined (PMID:24702957). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00402.; Changed phenotypes to: OMIM:615763.0, TUBB2A-related cortical dysplasia, complex, with other brain malformations, MONDO:0014337, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, OMIM:615763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TTI2 | Achchuthan Shanmugasundram edited their review of gene: TTI2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TTI2-related intellectual developmental disorder are strong, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01468.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:615541.0, TTI2-related intellectual developmental disorder, MONDO:0014238 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TTC12 | Achchuthan Shanmugasundram edited their review of gene: TTC12: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TTC12-related primary ciliary dyskinesia are strong, biallelic_autosomal and loss of function (PMID:31978331). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02927.; Changed rating: GREEN; Changed phenotypes to: TTC12-related Primary Ciliary Dyskinesia, OMIM:618801.0, MONDO:0032924, TTC12-related primary ciliary dyskinesia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TSEN34 | Achchuthan Shanmugasundram edited their review of gene: TSEN34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSEN34-related pontocerebellar hypoplasia are strong, biallelic_autosomal and undetermined (PMID:18711368). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00487.; Changed publications to: 18711368; Changed phenotypes to: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970, MONDO:0012891, TSEN34-related pontocerebellar hypoplasia, OMIM:612390.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TSEN15 | Achchuthan Shanmugasundram edited their review of gene: TSEN15: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSEN15-related pontocerebellar hypoplasia and progressive microcephaly are strong, biallelic_autosomal and undetermined (PMID:27392077). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01755.; Changed phenotypes to: Pontocerebellar Hypoplasia and Progressive Microcephaly, MONDO:0014874, OMIM:617026.0, TSEN15-related pontocerebellar hypoplasia and progressive microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TRPV3 | Achchuthan Shanmugasundram edited their review of gene: TRPV3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRPV3-related Olmsted syndrome are strong, monoallelic_autosomal and undetermined (PMID:22405088). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00500.; Changed phenotypes to: OLMSTED SYNDROME, OMIM:614594, TRPV3-related Olmsted syndrome, OMIM:614594.0, MONDO:0100296 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TRMT10C | Achchuthan Shanmugasundram edited their review of gene: TRMT10C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRMT10C-related mitochondrial RNA processing and multiple respiratory chain deficiencies are strong, biallelic_autosomal and undetermined (PMID:27132592). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01736.; Changed phenotypes to: OMIM:616974.0, MONDO:0014856, Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies, TRMT10C-related mitochondrial RNA processing and multiple respiratory chain deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TRAPPC10 | Achchuthan Shanmugasundram edited their review of gene: TRAPPC10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRAPPC10-related intellectual disability are limited, biallelic_autosomal and undetermined (PMID:30167849). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03133.; Changed phenotypes to: OMIM:620027.0, TRAPPC10-related intellectual disability, TRAPPC10-associated intellectual disability, MONDO:0859285 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TRA2B | Achchuthan Shanmugasundram edited their review of gene: TRA2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRA2B-related neurodevelopmental syndrome are moderate, monoallelic_autosomal and undetermined (PMID:36549593). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03418.; Changed phenotypes to: MONDO:0700092, TRA2B-related neurodevelopmental syndrome, TRA2B-associated neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TPRKB | Achchuthan Shanmugasundram edited their review of gene: TPRKB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TPRKB-related Galloway-Mowat syndrome are limited, biallelic_autosomal and undetermined (PMID:28805828). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02820.; Changed phenotypes to: TPRKB-related Galloway-Mowat syndrome, MONDO:0033009, OMIM:617731.0, GALLOWAY-MOWAT SYNDROME 5, OMIM:617731 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TPM2 | Achchuthan Shanmugasundram edited their review of gene: TPM2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TPM2-related arthrogryposis, distal are strong, monoallelic_autosomal and undetermined (PMID:12592607). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01665.; Changed phenotypes to: ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120, MONDO:0007157, TPM2-related arthrogryposis, distal, OMIM:108120.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TNPO2 | Achchuthan Shanmugasundram edited their review of gene: TNPO2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TNPO2-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:34314705). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03192.; Changed phenotypes to: TNPO2-related intellectual disability, OMIM:619556.0, MONDO:0859197 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TMEM63A | Achchuthan Shanmugasundram edited their review of gene: TMEM63A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM63A-related transient hypomyelination during infancy are strong, monoallelic_autosomal and undetermined (PMID:31587869). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02831.; Changed phenotypes to: Transient Hypomyelination during Infancy, TMEM63A-related transient hypomyelination during infancy, OMIM:618688.0, MONDO:0032871 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TMEM135 | Achchuthan Shanmugasundram edited their review of gene: TMEM135: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM135-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01472.; Changed phenotypes to: MONDO:0700092, TMEM135-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TLL1 | Achchuthan Shanmugasundram edited their review of gene: TLL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TLL1-related atrial septal defect are limited, monoallelic_autosomal and undetermined (PMID:18830233). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00416.; Changed phenotypes to: OMIM:613087.0, TLL1-related atrial septal defect, ATRIAL SEPTAL DEFECT TYPE 6, OMIM:613087, MONDO:0013123 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | THOC2 | Achchuthan Shanmugasundram edited their review of gene: THOC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for THOC2-related intellectual developmental disorder are strong, monoallelic_X_hemizygous and undetermined (PMID:26166480). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01676.; Changed phenotypes to: MONDO:0010496, OMIM:300957.0, THOC2-related intellectual developmental disorder, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12, OMIM:300957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TFRC | Achchuthan Shanmugasundram edited their review of gene: TFRC: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFRC-related combined immunodeficiency are limited, biallelic_autosomal and undetermined (PMID:26642240). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01748.; Changed phenotypes to: Combined immunodeficiency, TFRC-related combined immunodeficiency, MONDO:0014760, OMIM:616740.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TFAP2A | Achchuthan Shanmugasundram edited their review of gene: TFAP2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFAP2A-related branchiooculofacial syndrome are definitive, monoallelic_autosomal and undetermined (PMID:31490282). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00703.; Changed phenotypes to: OMIM:113620.0, TFAP2A-related branchiooculofacial syndrome, BRANCHIOOCULOFACIAL SYNDROME, OMIM:113620, MONDO:0007235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TAF2 | Achchuthan Shanmugasundram edited their review of gene: TAF2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TAF2-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01319.; Changed phenotypes to: OMIM:615599.0, TAF2-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TAF13 | Achchuthan Shanmugasundram edited their review of gene: TAF13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TAF13-related intellectual disability and microcephaly are strong, biallelic_autosomal and undetermined (PMID:28257693). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02249.; Changed phenotypes to: MONDO:0044313, TAF13-related intellectual disability and microcephaly, OMIM:617432.0, Autosomal-Recessive Intellectual Disability and Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TACR3 | Achchuthan Shanmugasundram edited their review of gene: TACR3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TACR3-related hypogonadotropic hypogonadism are strong, biallelic_autosomal and undetermined (PMID:19079066). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00493.; Changed phenotypes to: HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110, MONDO:0013913, OMIM:614840.0, TACR3-related hypogonadotropic hypogonadism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TAC3 | Achchuthan Shanmugasundram edited their review of gene: TAC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TAC3-related hypogonadotropic hypogonadism are strong, biallelic_autosomal and undetermined (PMID:19079066). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00444.; Changed phenotypes to: MONDO:0013912, TAC3-related hypogonadotropic hypogonadism, HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110, OMIM:614839.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SUPT16H | Achchuthan Shanmugasundram edited their review of gene: SUPT16H: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SUPT16H-related neurodevelopmental disorder are limited, monoallelic_autosomal and undetermined (PMID:31924697). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03010.; Changed phenotypes to: OMIM:619480.0, MONDO:0859179, SUPT16H-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | STT3A | Achchuthan Shanmugasundram edited their review of gene: STT3A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for STT3A-related congenital disorder of glycosylation are limited, biallelic_autosomal and undetermined (PMID:23842455). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01064. The DDG2P confidence category, allelic requirement and molecular mechanism for STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease are strong, monoallelic_autosomal and undetermined (PMID:34653363). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03226.; Changed phenotypes to: OMIM:615596.0, MONDO:0859223, STT3A-related congenital disorder of glycosylation, OMIM:619714.0, STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OMIM:615596 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SRPX2 | Achchuthan Shanmugasundram edited their review of gene: SRPX2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SRPX2-related bilateral perisylvian polymicrogyria are limited, monoallelic_X_hemizygous and undetermined (PMID:16497722). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01418.; Changed phenotypes to: SRPX2-related bilateral perisylvian polymicrogyria, OMIM:300388.0, BILATERAL PERISYLVIAN POLYMICROGYRIA, OMIM:300388, MONDO:0010314 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SRP54 | Achchuthan Shanmugasundram edited their review of gene: SRP54: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SRP54-related syndromic neutropenia with Shwachman-Diamond-like features are strong, monoallelic_autosomal and undetermined (PMID:28972538). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02416.; Changed phenotypes to: MONDO:0032899, SRP54-related syndromic neutropenia with Shwachman-Diamond-like features, OMIM:618752.0, Syndromic neutropenia with Shwachman-Diamond-like features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SPRY1 | Achchuthan Shanmugasundram edited their review of gene: SPRY1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPRY1-related craniosynostosis with inner ear and renal anomalies are limited, biallelic_autosomal and undetermined (PMID:36543535). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03436.; Changed phenotypes to: SPRY1-related craniosynostosis with inner ear and renal anomalies, SPRY1-associated craniosynostosis with inner ear and renal anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SPRTN | Achchuthan Shanmugasundram edited their review of gene: SPRTN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPRTN-related progeria and hepatocellular carcinoma are limited, biallelic_autosomal and undetermined (PMID:25261934). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01584.; Changed publications to: 25261934; Changed phenotypes to: MONDO:0014527, PROGEROID SYNDROME, SPRTN-related progeria and hepatocellular carcinoma, OMIM:616200.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SPARC | Achchuthan Shanmugasundram edited their review of gene: SPARC: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPARC-related osteogenesis imperfecta are strong, biallelic_autosomal and undetermined (PMID:26027498). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01673.; Changed phenotypes to: SPARC-related osteogenesis imperfecta, OSTEOGENESIS IMPERFECTA, TYPE XVII, OMIM:616507, OMIM:616507.0, MONDO:0014672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SOX17 | Achchuthan Shanmugasundram edited their review of gene: SOX17: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SOX17-related vesicoureteral reflux are definitive, monoallelic_autosomal and undetermined (PMID:20960469). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00585.; Changed phenotypes to: MONDO:0013356, OMIM:613674.0, VESICOURETERAL REFLUX TYPE 3, OMIM:613674, SOX17-related vesicoureteral reflux | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SNIP1 | Achchuthan Shanmugasundram edited their review of gene: SNIP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SNIP1-related symptomatic epilepsy and skull dysplasia are limited, biallelic_autosomal and undetermined (PMID:22279524). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01312.; Changed phenotypes to: SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA, OMIM:614501, SNIP1-related symptomatic epilepsy and skull dysplasia, OMIM:614501.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SMC5 | Achchuthan Shanmugasundram edited their review of gene: SMC5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMC5-related developmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36333305). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03452.; Changed phenotypes to: SMC5-related developmental disorder, OMIM:620185.0, MONDO:0859576 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SMARCE1 | Achchuthan Shanmugasundram edited their review of gene: SMARCE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMARCE1-related Coffin Siris are strong, monoallelic_autosomal and undetermined (PMID:22426308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00174.; Changed phenotypes to: COFFIN SIRIS, OMIM:135900, MONDO:0014838, SMARCE1-related Coffin Siris, OMIM:616938.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SLF2 | Achchuthan Shanmugasundram edited their review of gene: SLF2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLF2-related developmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36333305). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03451.; Changed phenotypes to: MONDO:0859575, SLF2-related developmental disorder, OMIM:620184.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC9A7 | Achchuthan Shanmugasundram edited their review of gene: SLC9A7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC9A7-related intellectual developmental disorder are limited, monoallelic_X_hemizygous and undetermined (PMID:30335141). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03038.; Changed phenotypes to: Intellectual developmental disorder, X-linked 108, OMIM:301024, MONDO:0026723, OMIM:301024.0, SLC9A7-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC6A17 | Achchuthan Shanmugasundram edited their review of gene: SLC6A17: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC6A17-related intellectual developmental disorder are strong, biallelic_autosomal and undetermined (PMID:25704603). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00656.; Changed phenotypes to: OMIM:616269.0, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48, OMIM:616269, SLC6A17-related intellectual developmental disorder, MONDO:0014559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC5A7 | Achchuthan Shanmugasundram edited their review of gene: SLC5A7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC5A7-related congenital myasthenic syndrome with episodic apnea are strong, biallelic_autosomal and undetermined (PMID:27569547). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01876.; Changed phenotypes to: SLC5A7-related congenital myasthenic syndrome with episodic apnea, Congenital Myasthenic Syndrome with Episodic Apnea, MONDO:0014939, OMIM:617143.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SLC45A1 | Achchuthan Shanmugasundram edited their review of gene: SLC45A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC45A1-related intellectual disability and epilepsy are strong, biallelic_autosomal and undetermined (PMID:28434495). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02234.; Changed phenotypes to: MONDO:0044322, OMIM:617532.0, Intellectual disability and epilepsy, SLC45A1-related intellectual disability and epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SLC35B2 | Achchuthan Shanmugasundram edited their review of gene: SLC35B2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy are limited, biallelic_autosomal and undetermined (PMID:35325049). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03411.; Changed phenotypes to: MONDO:0859518, SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy, OMIM:620269.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SLC30A7 | Achchuthan Shanmugasundram edited their review of gene: SLC30A7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC30A7-related Joubert syndrome are limited, monoallelic_autosomal and undetermined (PMID:35751429). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03423.; Changed phenotypes to: SLC30A7-related Joubert syndrome, SLC30A7-associated Joubert syndrome, MONDO:0018772 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SLC25A19 | Achchuthan Shanmugasundram edited their review of gene: SLC25A19: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A19-related Amish lethal microcephaly are strong, biallelic_autosomal and undetermined (PMID:12185364). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00311.; Changed phenotypes to: AMISH LETHAL MICROCEPHALY, OMIM:607196, OMIM:607196.0, SLC25A19-related Amish lethal microcephaly, MONDO:0011790 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SLC12A9 | Achchuthan Shanmugasundram edited their review of gene: SLC12A9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects are moderate, biallelic_autosomal and loss of function (PMID:38334070). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03558.; Changed phenotypes to: SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects, MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SIX6 | Achchuthan Shanmugasundram edited their review of gene: SIX6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SIX6-related microphthalmia, isolated, with cataract are limited, monoallelic_autosomal and undetermined (PMID:15266624). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00986.; Changed phenotypes to: MICROPHTHALMIA, ISOLATED, WITH CATARACT 2, OMIM:212550, SIX6-related microphthalmia, isolated, with cataract, OMIM:212550.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SIX5 | Achchuthan Shanmugasundram edited their review of gene: SIX5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SIX5-related branchiootorenal syndrome are definitive, monoallelic_autosomal and undetermined (PMID:17357085). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00803.; Changed phenotypes to: BRANCHIOOTORENAL SYNDROME TYPE 2, OMIM:610896, OMIM:610896.0, SIX5-related branchiootorenal syndrome, MONDO:0012575 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SIAH1 | Achchuthan Shanmugasundram edited their review of gene: SIAH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SIAH1-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMID:32430360). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02959.; Changed phenotypes to: SIAH1-related neurodevelopmental disorder, MONDO:0859144, OMIM:619314.0, SIAH1-associated neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SHMT2 | Achchuthan Shanmugasundram edited their review of gene: SHMT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SHMT2-related neurodevelopmental syndrome are strong, biallelic_autosomal and undetermined (PMID:33015733). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03048.; Changed phenotypes to: OMIM:619121.0, MONDO:0030866, SHMT2-related neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SEC23A | Achchuthan Shanmugasundram edited their review of gene: SEC23A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SEC23A-related craniolenticulosutural dysplasia are limited, biallelic_autosomal and undetermined (PMID:16980979). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01060.; Changed phenotypes to: SEC23A-related craniolenticulosutural dysplasia, CRANIOLENTICULOSUTURAL DYSPLASIA, OMIM:607812, OMIM:607812.0, MONDO:0011911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SART3 | Achchuthan Shanmugasundram edited their review of gene: SART3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) are moderate, biallelic_autosomal and loss of function (PMID:37296101). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03514.; Changed phenotypes to: MONDO:0100038, SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SAMD9L | Achchuthan Shanmugasundram edited their review of gene: SAMD9L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SAMD9L-related ataxia-pancytopenia syndrome are limited, monoallelic_autosomal and undetermined (PMID:27259050). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01741.; Changed phenotypes to: Ataxia-Pancytopenia Syndrome, OMIM:159550, OMIM:159550.0, MONDO:0008038, SAMD9L-related ataxia-pancytopenia syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | RRM1 | Achchuthan Shanmugasundram edited their review of gene: RRM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RRM1-related mitochondrial DNA depletion/deletions syndrome are limited, biallelic_autosomal and undetermined (PMID:35617047). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03370. The DDG2P confidence category, allelic requirement and molecular mechanism for RRM1-related mitochondrial DNA depletion/deletions syndrome are limited, monoallelic_autosomal and undetermined (PMID:35617047). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03371.; Changed phenotypes to: MONDO:0957993, RRM1-related mitochondrial DNA depletion/deletions syndrome, OMIM:620647.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RPS23 | Achchuthan Shanmugasundram edited their review of gene: RPS23: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RPS23-related microcephaly, hearing loss, and dysmorphic features are strong, monoallelic_autosomal and undetermined (PMID:28257692). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02247.; Changed phenotypes to: RPS23-related microcephaly, hearing loss, and dysmorphic features, Microcephaly, hearing loss, and dysmorphic features, OMIM:617412.0, MONDO:0044311 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RPL13 | Achchuthan Shanmugasundram edited their review of gene: RPL13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RPL13-related spondyloepimetaphyseal dysplasia with severe short stature are limited, monoallelic_autosomal and undetermined (PMID:31630789). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02835.; Changed phenotypes to: Spondyloepimetaphyseal Dysplasia with Severe Short Stature, OMIM:618728.0, RPL13-related spondyloepimetaphyseal dysplasia with severe short stature, MONDO:0032885 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | RMND1 | Achchuthan Shanmugasundram edited their review of gene: RMND1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RMND1-related encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect are strong, biallelic_autosomal and undetermined (PMID:23022099). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00870.; Changed phenotypes to: ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT, OMIM:614922, MONDO:0013969, RMND1-related encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect, OMIM:614922.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RLIM | Achchuthan Shanmugasundram edited their review of gene: RLIM: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RLIM-related intellectual disability are strong, monoallelic_X_hemizygous and undetermined (PMID:25644381). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02011.; Changed phenotypes to: RLIM-related intellectual disability, OMIM:300978.0, INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0010506 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | RHOBTB2 | Achchuthan Shanmugasundram edited their review of gene: RHOBTB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RHOBTB2-related developmental and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:29276004). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02589.; Changed phenotypes to: OMIM:618004.0, MONDO:0033373, Developmental and Epileptic Encephalopathy, RHOBTB2-related developmental and epileptic encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | REST | Achchuthan Shanmugasundram commented on gene: REST: The DDG2P confidence category, allelic requirement and molecular mechanism for REST-related gingival fibromatosis and sensorineural hearing loss are moderate, monoallelic_autosomal and undetermined (PMID:36509837). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03456. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | RBM28 | Achchuthan Shanmugasundram edited their review of gene: RBM28: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RBM28-related alopecia, neurologic defects, and endocrinopathy syndrome are limited, biallelic_autosomal and undetermined (PMID:18439547). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00449.; Changed phenotypes to: RBM28-related alopecia, neurologic defects, and endocrinopathy syndrome, OMIM:612079.0, MONDO:0012794, ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME, OMIM:612079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | RANBP2 | Achchuthan Shanmugasundram edited their review of gene: RANBP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RANBP2-related acute necrotizing encephalopathy, susceptibility to are limited, monoallelic_autosomal and undetermined (PMID:19118815). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01534.; Changed phenotypes to: RANBP2-related acute necrotizing encephalopathy, susceptibility to, OMIM:608033.0, ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO, OMIM:285648, MONDO:0011953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RALGDS | Achchuthan Shanmugasundram edited their review of gene: RALGDS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RALGDS-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00643.; Changed phenotypes to: MONDO:0700092, RALGDS-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RALA | Achchuthan Shanmugasundram edited their review of gene: RALA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RALA-related neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:30500825). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02934.; Changed phenotypes to: OMIM:619311.0, MONDO:0859142, RALA-related Neurodevelopmental Syndrome, RALA-related neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RAD51C | Achchuthan Shanmugasundram edited their review of gene: RAD51C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAD51C-related Fanconi anemia are strong, biallelic_autosomal and undetermined (PMID:20400963). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01017.; Changed phenotypes to: RAD51C-related Fanconi anemia, OMIM:613390.0, MONDO:0013248, FANCONI ANEMIA, COMPLEMENTATION GROUP 0, OMIM:613390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RAC3 | Achchuthan Shanmugasundram edited their review of gene: RAC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAC3-related neurodevelopment disorder are strong, monoallelic_autosomal and undetermined (PMID:30293988). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02570.; Changed phenotypes to: Neurodevelopment disorder, RAC3-related neurodevelopment disorder, MONDO:0032820, OMIM:618577.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | RABL6 | Achchuthan Shanmugasundram edited their review of gene: RABL6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RABL6-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00176.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0700092, RABL6-related intellectual developmental 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 | RAB14 | Achchuthan Shanmugasundram edited their review of gene: RAB14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAB14-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02880.; Changed phenotypes to: MONDO:0700092, RAB14-related developmental disorder (monoallelic), RAB14-related developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RAB11B | Achchuthan Shanmugasundram edited their review of gene: RAB11B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAB11B-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29106825). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01972.; Changed phenotypes to: RAB11B-related intellectual disability, OMIM:617807.0, MONDO:0060624, INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RAB11A | Achchuthan Shanmugasundram edited their review of gene: RAB11A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAB11A-related epilepsy and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29100083). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02376.; Changed phenotypes to: Epilepsy and intellectual disability, MONDO:0700092, RAB11A-related epilepsy and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | QARS | Achchuthan Shanmugasundram edited their review of gene: QARS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for QARS1-related microcephaly, progressive, seizures, and cerebral and cerebellar atrophy are strong, biallelic_autosomal and undetermined (PMID:24656866). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00574.; Changed phenotypes to: MONDO:0014335, OMIM:615760.0, QARS1-related microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, OMIM:615760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PYCR2 | Achchuthan Shanmugasundram edited their review of gene: PYCR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PYCR2-related postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume are strong, biallelic_autosomal and undetermined (PMID:25865492). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01573.; Changed phenotypes to: MONDO:0014632, OMIM:616420.0, PYCR2-related postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume, POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PTDSS1 | Achchuthan Shanmugasundram edited their review of gene: PTDSS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PTDSS1-related Lenz-Majewski hyperostotic dwarfism are definitive, monoallelic_autosomal and gain of function (PMID:24241535). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00360. The DDG2P confidence category, allelic requirement and molecular mechanism for PTDSS1-related developmental delay are limited, monoallelic_autosomal and undetermined (PMID:35224839). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03416.; Changed phenotypes to: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, OMIM:151050, PTDSS1-related Lenz-Majewski hyperostotic dwarfism, MONDO:0007892, PTDSS1-related developmental delay, Developmental delay, OMIM:151050.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PSMC5 | Achchuthan Shanmugasundram edited their review of gene: PSMC5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMC5-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02898.; Changed phenotypes to: PSMC5-related developmental disorder (monoallelic), MONDO:0700092, PSMC5-related developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PSMC3 | Achchuthan Shanmugasundram edited their review of gene: PSMC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMC3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:37256937). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03496.; Changed phenotypes to: MONDO:0700092, PSMC3-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PSMC1 | Achchuthan Shanmugasundram edited their review of gene: PSMC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMC1-related neurodevelopmental disorder are limited, monoallelic_autosomal and undetermined (PMID:35861243). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03337.; Changed phenotypes to: MONDO:0700092, PSMC1-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PRMT9 | Achchuthan Shanmugasundram edited their review of gene: PRMT9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRMT9-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01462.; Changed phenotypes to: PRMT9-related intellectual developmental disorder, MONDO:0700092, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PRKACB | Achchuthan Shanmugasundram edited their review of gene: PRKACB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKACB-related multiple congenital malformation syndrome are strong, monoallelic_autosomal and undetermined (PMID:33058759). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03064.; Changed phenotypes to: MONDO:0030877, OMIM:619143.0, PRKACB-related multiple congenital malformation syndrome, PRKACB-related Multiple Congenital Malformation Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PRKACA | Achchuthan Shanmugasundram edited their review of gene: PRKACA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKACA-related multiple congenital malformation syndrome are strong, monoallelic_autosomal and undetermined (PMID:33058759). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03063.; Changed phenotypes to: PRKACA-related multiple congenital malformation syndrome, PRKACA-related Multiple Congenital Malformation Syndrome, OMIM:619142.0, MONDO:0030876 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PRDM6 | Achchuthan Shanmugasundram edited their review of gene: PRDM6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRDM6-related isolated nonsyndromic patent ductus arteriosus are limited, monoallelic_autosomal and undetermined (PMID:27181681). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01739.; Changed phenotypes to: OMIM:617039.0, PRDM6-related isolated nonsyndromic patent ductus arteriosus, MONDO:0024266, Isolated Nonsyndromic Patent Ductus Arteriosus. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PRDM15 | Achchuthan Shanmugasundram commented on gene: PRDM15: The DDG2P confidence category, allelic requirement and molecular mechanism for PRDM15-related renal and neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:33593823). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03106. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PPP3CA | Achchuthan Shanmugasundram edited their review of gene: PPP3CA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PPP3CA-related severe neurodevelopmental disease with seizures are strong, monoallelic_autosomal and undetermined (PMID:28942967). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02370.; Changed phenotypes to: MONDO:0700092, Severe Neurodevelopmental Disease with Seizures, PPP3CA-related severe neurodevelopmental disease with seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PPP1CB | Achchuthan Shanmugasundram edited their review of gene: PPP1CB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PPP1CB-related rasopathy with developmental delay, short stature, and sparse slow-growing hair are definitive, monoallelic_autosomal and undetermined (PMID:27264673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01758.; Changed phenotypes to: MONDO:0054588, Rasopathy with developmental delay, short stature and sparse slow-growing hair, OMIM:617506.0, PPP1CB-related rasopathy with developmental delay, short stature, and sparse slow-growing hair | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PPFIA3 | Achchuthan Shanmugasundram edited their review of gene: PPFIA3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PPFIA3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:38181735). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03539.; Changed phenotypes to: Paul-Chao neurodevelopmental syndrome, OMIM:621122, MONDO:1040014, PPFIA3-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | POU3F3 | Achchuthan Shanmugasundram edited their review of gene: POU3F3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POU3F3-related intellectual disability are definitive, monoallelic_autosomal and undetermined (PMID:31303265). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02759.; Changed phenotypes to: OMIM:618604.0, POU3F3-related intellectual disability, MONDO:0032830, INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | POT1 | Achchuthan Shanmugasundram edited their review of gene: POT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POT1-related Coats plus are limited, biallelic_autosomal and undetermined (PMID:27013236). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01756.; Changed phenotypes to: POT1-related Coats plus, MONDO:0957264, Coats Plus, OMIM:620368.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | POMP | Achchuthan Shanmugasundram edited their review of gene: POMP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POMP-related keratosis linearis with ichthyosis congenita and sclerosing keratoderma are limited, biallelic_autosomal and undetermined (PMID:20226437). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01501.; Changed phenotypes to: MONDO:0011169, POMP-related keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952.0, KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, OMIM:601952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PMPCB | Achchuthan Shanmugasundram edited their review of gene: PMPCB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PMPCB-related neurodegeneration in early childhood are strong, biallelic_autosomal and undetermined (PMID:29576218). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02600.; Changed phenotypes to: OMIM:617954.0, Neurodegeneration in Early Childhood, PMPCB-related neurodegeneration in early childhood, MONDO:0054785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PLCH1 | Achchuthan Shanmugasundram edited their review of gene: PLCH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PLCH1-related holoprosencephaly are limited, biallelic_autosomal and undetermined (PMID:33820834). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03315.; Changed phenotypes to: MONDO:0030886, PLCH1-related holoprosencephaly, HPE-related disorder, OMIM:619895.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PIP5K1C | Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIP5K1C-related lethal congenital contracture syndrome are limited, biallelic_autosomal and undetermined (PMID:17701898). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00274. The DDG2P confidence category, allelic requirement and molecular mechanism for PIP5K1C-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:37451268). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03467.; Changed publications to: 37451268, 17701898; Changed phenotypes to: PIP5K1C-related neurodevelopmental disorder, OMIM:611369.0, PIP5K1C-associated neurodevelopmental disorder, MONDO:0012656, MONDO:0700092, PIP5K1C-related lethal congenital contracture syndrome, LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PIGY | Achchuthan Shanmugasundram edited their review of gene: PIGY: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGY-related glycosylphosphatidylinositol deficiency are strong, biallelic_autosomal and undetermined (PMID:26293662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01784.; Changed phenotypes to: OMIM:616809.0, MONDO:0014780, Glycosylphosphatidylinositol deficiency, OMIM:610293, PIGY-related glycosylphosphatidylinositol deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PIGW | Achchuthan Shanmugasundram edited their review of gene: PIGW: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGW-related hyperphosphatasia with intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:24367057). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01699.; Changed phenotypes to: OMIM:616025.0, PIGW-related hyperphosphatasia with intellectual developmental disorder, HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 5, OMIM:616025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PIGU | Achchuthan Shanmugasundram edited their review of gene: PIGU: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGU-related intellectual disability, central nervous system anomalies and scoliosis are strong, biallelic_autosomal and undetermined (PMID:31353022). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02761.; Changed phenotypes to: OMIM:618590.0, Intellectual Disability, Central Nervous System anomalies and Scoliosis, PIGU-related intellectual disability, central nervous system anomalies and scoliosis, MONDO:0032824 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PIGM | Achchuthan Shanmugasundram edited their review of gene: PIGM: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGM-related glycosylphosphatidylinositol deficiency are limited, biallelic_autosomal and undetermined (PMID:16767100). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02424.; Changed phenotypes to: MONDO:0012465, OMIM:610293.0, PIGM-related glycosylphosphatidylinositol deficiency, Glycosylphosphatidylinositol deficiency, OMIM:610293 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PHC1 | Achchuthan Shanmugasundram edited their review of gene: PHC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PHC1-related primary microcephaly are limited, biallelic_autosomal and undetermined (PMID:23418308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00227.; Changed phenotypes to: PHC1-related primary microcephaly, MONDO:0014173, PRIMARY MICROCEPHALY, OMIM:615414, OMIM:615414.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PECR | Achchuthan Shanmugasundram edited their review of gene: PECR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PECR-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00315.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0700092, PECR-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PDSS1 | Achchuthan Shanmugasundram edited their review of gene: PDSS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PDSS1-related coenzyme Q10 deficiency, primary are strong, biallelic_autosomal and undetermined (PMID:17332895). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00213.; Changed phenotypes to: OMIM:614651.0, COENZYME Q10 DEFICIENCY, PRIMARY, 2, OMIM:614651, PDSS1-related coenzyme Q10 deficiency, primary | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PDE10A | Achchuthan Shanmugasundram edited their review of gene: PDE10A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PDE10A-related childhood-onset chorea with bilateral striatal lesions are strong, monoallelic_autosomal and undetermined (PMID:27058447). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01729.; Changed phenotypes to: PDE10A-related childhood-onset chorea with bilateral striatal lesions, Childhood-Onset Chorea with Bilateral Striatal Lesions, OMIM:616922.0, MONDO:0014835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PARP1 | Achchuthan Shanmugasundram edited their review of gene: PARP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PARP1-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00254.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0700092, PARP1-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | PABPC1 | Achchuthan Shanmugasundram commented on gene: PABPC1: The DDG2P confidence category, allelic requirement and molecular mechanism for PABPC1-related developmental delay are limited, monoallelic_autosomal and undetermined (PMID:35511136). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03484. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | P4HB | Achchuthan Shanmugasundram edited their review of gene: P4HB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for P4HB-related Cole-Carpenter syndrome are strong, monoallelic_autosomal and undetermined (PMID:25683117). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00895.; Changed phenotypes to: COLE-CARPENTER SYNDROME, OMIM:112240, OMIM:112240.0, MONDO:0007204, P4HB-related Cole-Carpenter syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | OSGEP | Achchuthan Shanmugasundram edited their review of gene: OSGEP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for OSGEP-related nephrotic syndrome with primary microcephaly are strong, biallelic_autosomal and undetermined (PMID:28805828). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02386.; Changed phenotypes to: Nephrotic syndrome with primary microcephaly, MONDO:0033007, OSGEP-related nephrotic syndrome with primary microcephaly, OMIM:617729.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | NUP62 | Achchuthan Shanmugasundram edited their review of gene: NUP62: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NUP62-related infantile striatonigral degeneration are strong, biallelic_autosomal and undetermined (PMID:16786527). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00243.; Changed phenotypes to: NUP62-related infantile striatonigral degeneration, INFANTILE STRIATONIGRAL DEGENERATION, OMIM:271930, OMIM:271930.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NUP54 | Achchuthan Shanmugasundram commented on gene: NUP54: The DDG2P confidence category, allelic requirement and molecular mechanism for NUP54-related early-onset dystonia with striatal lesions are moderate, biallelic_autosomal and undetermined (PMID:36333996). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03415. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NTRK2 | Achchuthan Shanmugasundram edited their review of gene: NTRK2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NTRK2-related epilepsy and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29100083). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02374.; Changed phenotypes to: NTRK2-related epilepsy and intellectual disability, OMIM:617830.0, Epilepsy and intellectual disability, MONDO:0033367 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | NR1I3 | Achchuthan Shanmugasundram edited their review of gene: NR1I3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NR1I3-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:22726846). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00508.; Changed publications to: 22726846; Changed phenotypes to: EHMT1-LIKE INTELLECTUAL DISABILITY, NR1I3-related intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NPM1 | Achchuthan Shanmugasundram edited their review of gene: NPM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NPM1-related dyskeratosis congenita are strong, monoallelic_autosomal and undetermined (PMID:31570891). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02813.; Changed phenotypes to: Dyskeratosis Congenita, MONDO:0015780, NPM1-related dyskeratosis congenita | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | NOP10 | Achchuthan Shanmugasundram edited their review of gene: NOP10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NOP10-related dyskeratosis congenita are moderate, biallelic_autosomal and loss of function (PMID:17507419). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00165.; Changed phenotypes to: MONDO:0009136, NOP10-related dyskeratosis congenita, OMIM:224230, OMIM:224230.0, NOP10-related dyskeratosis congenita | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NKAP | Achchuthan Shanmugasundram edited their review of gene: NKAP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NKAP-related marfanoid habitus and cognitive impairment are strong, monoallelic_X_hemizygous and undetermined (PMID:31587868). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02830.; Changed phenotypes to: MONDO:0026733, NKAP-related marfanoid habitus and cognitive impairment, Marfanoid Habitus and Cognitive Impairment, OMIM:301039.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | NCDN | Achchuthan Shanmugasundram edited their review of gene: NCDN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NCDN-related neurodevelopmental disorder with seizures (biallelic) are limited, biallelic_autosomal and undetermined (PMID:33711248). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03115. The DDG2P confidence category, allelic requirement and molecular mechanism for NCDN-related neurodevelopmental disorder with seizures (monoallelic) are strong, monoallelic_autosomal and undetermined (PMID:33711248). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03116.; Changed phenotypes to: NCDN-related neurodevelopmental disorder with seizures (biallelic), NCDN-associated neurodevelopmental disorder with seizures (monoallelic), MONDO:0859162, NCDN-associated neurodevelopmental disorder with seizures (biallelic), NCDN-related neurodevelopmental disorder with seizures (monoallelic), OMIM:619373.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NCAPG2 | Achchuthan Shanmugasundram edited their review of gene: NCAPG2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NCAPG2-related severe neurodevelopmental syndrome are strong, biallelic_autosomal and undetermined (PMID:30609410). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02637.; Changed phenotypes to: MONDO:0032764, OMIM:618460.0, Severe Neurodevelopmental Syndrome, NCAPG2-related severe neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NAE1 | Achchuthan Shanmugasundram edited their review of gene: NAE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NAE1-related neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia, and neurodegeneration are moderate, biallelic_autosomal and undetermined (PMID:36608681). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03425.; Changed phenotypes to: OMIM:620210.0, NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration, NAE1-related neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia, and neurodegeneration, MONDO:0859361 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MYLPF | Achchuthan Shanmugasundram edited their review of gene: MYLPF: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYL11-related arthrogryposis, distal are strong, biallelic_autosomal and undetermined (PMID:32707087). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03032. The DDG2P confidence category, allelic requirement and molecular mechanism for MYL11-related arthrogryposis, distal are limited, monoallelic_autosomal and undetermined (PMID:32707087). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03033.; Changed phenotypes to: MYL11-related arthrogryposis, distal, MYLPF arthrogryposis (biallelic), OMIM:619110.0, MYLPF arthrogryposis (monoallelic), MONDO:0030847 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MTSS1L | Achchuthan Shanmugasundram edited their review of gene: MTSS1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MTSS2-related syndromic intellectual disability are moderate, monoallelic_autosomal and undetermined (PMID:36067766). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03349.; Changed phenotypes to: MTSS2-related syndromic intellectual disability, MTSS2-associated syndromic intellectual disability, OMIM:620086.0, MONDO:0859303 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MT-TL1 | Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MT-TL1-related mitochondrial disorder are limited, mitochondrial and undetermined (PMID:34075211). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03132.; Changed phenotypes to: MONDO:0044970, MT-TL1-related mitochondrial disorder, MT-TL1-associated mitochondrial disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MSI1 | Achchuthan Shanmugasundram edited their review of gene: MSI1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MSI1-related microcephaly are limited, biallelic_autosomal and undetermined (PMID:28572454). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02422.; Changed phenotypes to: MSI1-related microcephaly, MSI1-associated Microcephaly, MONDO:0001149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MRPS22 | Achchuthan Shanmugasundram edited their review of gene: MRPS22: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MRPS22-related combined oxidative phosphorylation deficiency are strong, biallelic_autosomal and undetermined (PMID:17873122). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00122.; Changed phenotypes to: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, OMIM:611719, MRPS22-related combined oxidative phosphorylation deficiency, OMIM:611719.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MRPS2 | Achchuthan Shanmugasundram edited their review of gene: MRPS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MRPS2-related sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies are strong, biallelic_autosomal and undetermined (PMID:29576219). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02599.; Changed phenotypes to: MONDO:0054781, Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies, OMIM:617950.0, MRPS2-related sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MPC2 | Achchuthan Shanmugasundram edited their review of gene: MPC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MPC2-related metabolic disorder are limited, biallelic_autosomal and undetermined (PMID:36417180). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03458.; Changed phenotypes to: MPC2-related metabolic disorder, MONDO:0005066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MMP14 | Achchuthan Shanmugasundram edited their review of gene: MMP14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MMP14-related Winchester syndrome are limited, biallelic_autosomal and undetermined (PMID:22922033). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01317.; Changed phenotypes to: OMIM:277950.0, MMP14-related Winchester syndrome, MONDO:0010201, WINCHESTER SYNDROME, OMIM:277950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MMGT1 | Achchuthan Shanmugasundram commented on gene: MMGT1: The DDG2P confidence category, allelic requirement and molecular mechanism for MMGT1-related developmental disorder are moderate, monoallelic_X_hemizygous and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03016. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MFSD2A | Achchuthan Shanmugasundram edited their review of gene: MFSD2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MFSD2A-related primary microcephaly are definitive, biallelic_autosomal and undetermined (PMID:26005865). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01689.; Changed phenotypes to: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, OMIM:616486, OMIM:616486.0, MFSD2A-related primary microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MFN2 | Achchuthan Shanmugasundram commented on gene: MFN2: The DDG2P confidence category, allelic requirement and molecular mechanism for MFN2-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03015. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MED17 | Achchuthan Shanmugasundram edited their review of gene: MED17: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED17-related microcephaly, postnatal progressive, with seizures and brain atrophy are strong, biallelic_autosomal and undetermined (PMID:20950787). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00395.; Changed phenotypes to: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, OMIM:613668, MONDO:0013351, MED17-related microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MED11 | Achchuthan Shanmugasundram edited their review of gene: MED11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED11-related neurodevelopmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36001086). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03343.; Changed phenotypes to: MED11-associated neurodevelopmental disorder, MONDO:0957225, OMIM:620327.0, MED11-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MAPRE2 | Achchuthan Shanmugasundram edited their review of gene: MAPRE2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAPRE2-related circumferential skin creases, Kunze type are definitive, biallelic_autosomal and undetermined (PMID:26637975). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01655.; Changed phenotypes to: MONDO:0014755, MAPRE2-related circumferential skin creases, Kunze type, Circumferential Skin Creases Kunze Type, OMIM:156610, OMIM:616734.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MAN2A2 | Achchuthan Shanmugasundram edited their review of gene: MAN2A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAN2A2-related disorder of glycosylation are limited, biallelic_autosomal and undetermined (PMID:36357165). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03421.; Changed phenotypes to: MONDO:0024322, MAN2A2-related disorder of glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | MACF1 | Achchuthan Shanmugasundram edited their review of gene: MACF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MACF1-related defects in neuronal migration and axon guidance are strong, monoallelic_autosomal and undetermined (PMID:30471716). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02631.; Changed phenotypes to: Defects in Neuronal Migration and Axon Guidance, MACF1-related defects in neuronal migration and axon guidance, MONDO:0032677, OMIM:618325.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | LSM11 | Achchuthan Shanmugasundram commented on gene: LSM11: The DDG2P confidence category, allelic requirement and molecular mechanism for LSM11-related Aicardi-Goutieres syndrome are limited, biallelic_autosomal and loss of function (PMID:33230297). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03531. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LRPAP1 | Achchuthan Shanmugasundram edited their review of gene: LRPAP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LRPAP1-related myopia, extreme are definitive, biallelic_autosomal and loss of function (PMID:23830514). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00056.; Changed rating: GREEN; Changed phenotypes to: MYOPIA 23, AUTOSOMAL RECESSIVE, OMIM:615431, EXTREME MYOPIA, MONDO:0014183, OMIM:615431.0, LRPAP1-related myopia, extreme | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | LMNB2 | Achchuthan Shanmugasundram edited their review of gene: LMNB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LMNB2-related primary microcephaly are strong, monoallelic_autosomal and undetermined (PMID:33033404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03056.; Changed phenotypes to: LMNB2-related primary microcephaly, OMIM:619180.0, MONDO:0030929, LMNB2-related Primary Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | LMBRD2 | Achchuthan Shanmugasundram edited their review of gene: LMBRD2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LMBRD2-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:32820033). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03212.; Changed phenotypes to: OMIM:619694.0, LMBRD2-associated intellectual disability, LMBRD2-related intellectual disability, MONDO:0859218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LIPT2 | Achchuthan Shanmugasundram edited their review of gene: LIPT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LIPT2-related mitochondrial lipoylation defect associated with severe neonatal encephalopathy are strong, biallelic_autosomal and undetermined (PMID:28757203). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02219.; Changed phenotypes to: Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy, MONDO:0060562, OMIM:617668.0, LIPT2-related mitochondrial lipoylation defect associated with severe neonatal encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | LETM1 | Achchuthan Shanmugasundram edited their review of gene: LETM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LETM1-related neurodevelopmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36055214). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03409.; Changed phenotypes to: OMIM:620089.0, MONDO:0859304, LETM1-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | LARS2 | Achchuthan Shanmugasundram edited their review of gene: LARS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LARS2-related Perrault syndrome are strong, biallelic_autosomal and undetermined (PMID:23541342). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00856.; Changed phenotypes to: LARS2-related Perrault syndrome, PERRAULT SYNDROME, MONDO:0014126, OMIM:615300.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LAGE3 | Achchuthan Shanmugasundram edited their review of gene: LAGE3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LAGE3-related Galloway-Mowat syndrome are limited, monoallelic_X_hemizygous and undetermined (PMID:28805828). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02821.; Changed phenotypes to: OMIM:301006.0, GALLOWAY-MOWAT SYNDROME 2, OMIM:301006, MONDO:0033006, LAGE3-related Galloway-Mowat syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | KPNA7 | Achchuthan Shanmugasundram edited their review of gene: KPNA7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KPNA7-related Gomez-Lopez-Fernandes syndrome are limited, biallelic_autosomal and undetermined (PMID:24045845). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01769.; Changed phenotypes to: KPNA7-related Gomez-Lopez-Fernandes syndrome, Gomez-Lopez-Fernandes syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | KLHL20 | Achchuthan Shanmugasundram edited their review of gene: KLHL20: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KLHL20-related developmental disorder with seizures are moderate, monoallelic_autosomal and undetermined (PMID:36214804). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03488.; Changed phenotypes to: KLHL20-related developmental disorder with seizures, MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KLF7 | Achchuthan Shanmugasundram edited their review of gene: KLF7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KLF7-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMID:29251763). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02987.; Changed phenotypes to: MONDO:0700092, KLF7-related developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KIRREL3 | Achchuthan Shanmugasundram edited their review of gene: KIRREL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KIRREL3-related intellectual developmental disorder are limited, monoallelic_autosomal and undetermined (PMID:19012874). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00765.; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 4, OMIM:612581, KIRREL3-related intellectual developmental disorder, MONDO:0012947, OMIM:612581.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KIF5C | Achchuthan Shanmugasundram edited their review of gene: KIF5C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KIF5C-related cortical dysplasia, complex, with other brain malformations are strong, monoallelic_autosomal and undetermined (PMID:23603762). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00729.; Changed phenotypes to: OMIM:615282.0, KIF5C-related cortical dysplasia, complex, with other brain malformations, MONDO:0014116, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, OMIM:615282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | KIF3B | Achchuthan Shanmugasundram edited their review of gene: KIF3B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KIF3B-related ciliopathy are limited, monoallelic_autosomal and undetermined (PMID:32386558). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02969.; Changed phenotypes to: MONDO:0005308, KIF3B-related ciliopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KDM5A | Achchuthan Shanmugasundram edited their review of gene: KDM5A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KDM5A-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01352.; Changed phenotypes to: KDM5A-related intellectual developmental disorder, MONDO:0700092, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | KCNQ3 | Achchuthan Shanmugasundram edited their review of gene: KCNQ3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNQ3-related syndrome are definitive, monoallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01704.; Changed phenotypes to: MONDO:0700092, KCNQ3 syndrome, KCNQ3-related syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | KCNB1 | Achchuthan Shanmugasundram edited their review of gene: KCNB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNB1-related epileptic encephalopathy, early infantile are definitive, monoallelic_autosomal and undetermined (PMID:25164438). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01597.; Changed phenotypes to: KCNB1-related epileptic encephalopathy, early infantile, OMIM:616056.0, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, OMIM:616056, MONDO:0014477 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KCNA4 | Achchuthan Shanmugasundram edited their review of gene: KCNA4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNA4-related abnormal striatum, congenital cataract and intellectual disability are limited, biallelic_autosomal and undetermined (PMID:27582084). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02801.; Changed phenotypes to: MONDO:0032656, OMIM:618284.0, KCN4 related abnormal striatum, congenital cataract and intellectual disability., KCNA4-related abnormal striatum, congenital cataract and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | KAT5 | Achchuthan Shanmugasundram edited their review of gene: KAT5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KAT5-related neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:32822602). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03041.; Changed phenotypes to: OMIM:619103.0, KAT5-related Neurodevelopmental Syndrome, MONDO:0030852, KAT5-related neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ITGA6 | Achchuthan Shanmugasundram edited their review of gene: ITGA6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ITGA6-related epidermolysis bullosa with pyloric atresia are limited, biallelic_autosomal and loss of function (PMID:9185503). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03906.; Changed phenotypes to: EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA, OMIM:226730, MONDO:0859233, ITGA6-related epidermolysis bullosa with pyloric atresia, OMIM:619817.0; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | IQSEC1 | Achchuthan Shanmugasundram edited their review of gene: IQSEC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IQSEC1-related intellectual disability, developmental delay, and short stature are strong, biallelic_autosomal and undetermined (PMID:31607425). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02832.; Changed phenotypes to: IQSEC1-related intellectual disability, developmental delay, and short stature, OMIM:618687.0, Intellectual Disability, Developmental Delay, and Short Stature, MONDO:0032870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | IL11 | Achchuthan Shanmugasundram edited their review of gene: IL11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IL11-related craniosynostosis are limited, biallelic_autosomal and undetermined (PMID:21741611). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01476.; Changed phenotypes to: IL11-related craniosynostosis, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, OMIM:614188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | IGBP1 | Achchuthan Shanmugasundram edited their review of gene: IGBP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IGBP1-related agenesis of the corpus callosum with intellectual developmental disorder-ocular coloboma-micrognathia are limited, monoallelic_X_hemizygous and undetermined (PMID:23871722). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01025.; Changed phenotypes to: OMIM:300472.0, MONDO:0010333, IGBP1-related agenesis of the corpus callosum with intellectual developmental disorder-ocular coloboma-micrognathia, AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | IFT80 | Achchuthan Shanmugasundram edited their review of gene: IFT80: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFT80-related asphyxiating thoracic dystrophy are definitive, biallelic_autosomal and undetermined (PMID:17468754). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01252.; Changed phenotypes to: IFT80-related asphyxiating thoracic dystrophy, ASPHYXIATING THORACIC DYSTROPHY 2, OMIM:611263, MONDO:0012644, OMIM:611263.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | IFT43 | Achchuthan Shanmugasundram edited their review of gene: IFT43: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFT43-related cranioectodermal dysplasia are definitive, biallelic_autosomal and undetermined (PMID:21378380). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00347.; Changed phenotypes to: OMIM:614099.0, CRANIOECTODERMAL DYSPLASIA TYPE 3, OMIM:614099, IFT43-related cranioectodermal dysplasia, MONDO:0013573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | HYLS1 | Achchuthan Shanmugasundram edited their review of gene: HYLS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HYLS1-related hydrolethalus syndrome are definitive, biallelic_autosomal and undetermined (PMID:15843405). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00504.; Changed phenotypes to: MONDO:0009365, OMIM:236680.0, HYLS1-related hydrolethalus syndrome, HYDROLETHALUS SYNDROME TYPE 1, OMIM:236680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | HOXB1 | Achchuthan Shanmugasundram edited their review of gene: HOXB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HOXB1-related facial paresis, congenital are strong, biallelic_autosomal and undetermined (PMID:22770981). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00821.; Changed phenotypes to: FACIAL PARESIS, HEREDITARY CONGENITAL, 3, OMIM:614744, MONDO:0013880, HOXB1-related facial paresis, congenital, OMIM:614744.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HNRNPH2 | Achchuthan Shanmugasundram edited their review of gene: HNRNPH2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HNRNPH2-related neurodevelopmental disorder are strong, monoallelic_X_heterozygous and undetermined (PMID:27545675). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01875.; Changed phenotypes to: HNRNPH2-related neurodevelopmental disorder, Neurodevelopmental Disorder in Females, OMIM:300986.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | HECTD4 | Achchuthan Shanmugasundram edited their review of gene: HECTD4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum are moderate, biallelic_autosomal and undetermined (PMID:36401616). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03490.; Changed phenotypes to: HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum, MONDO:0859516, OMIM:620250.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HDAC3 | Achchuthan Shanmugasundram edited their review of gene: HDAC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HDAC3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:39047730). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03596.; Changed phenotypes to: MONDO:0700092, HDAC3-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HCN1 | Achchuthan Shanmugasundram edited their review of gene: HCN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HCN1-related epileptic encephalopathy, early infantile are definitive, monoallelic_autosomal and undetermined (PMID:24747641). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00411.; Changed phenotypes to: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, OMIM:615871, OMIM:615871.0, MONDO:0014377, HCN1-related epileptic encephalopathy, early infantile | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HARS | Achchuthan Shanmugasundram edited their review of gene: HARS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HARS1-related Usher syndrome are limited, biallelic_autosomal and undetermined (PMID:22279524). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00615.; Changed phenotypes to: MONDO:0013788, USHER SYNDROME, OMIM:614504, OMIM:614504.0, HARS1-related Usher syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HIST1H4C | Achchuthan Shanmugasundram edited their review of gene: HIST1H4C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H4C3-related Tessadori-Bicknell-van Haaften neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:28920961). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01969.; Changed phenotypes to: HIST1H4C, OMIM:619758.0, MONDO:0030729, H4C3-related Tessadori-Bicknell-van Haaften neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | HIST3H3 | Achchuthan Shanmugasundram edited their review of gene: HIST3H3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H3-4-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00751.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0700092, H3-4-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | H3F3B | Achchuthan Shanmugasundram edited their review of gene: H3F3B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H3-3B-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33268356). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03308.; Changed phenotypes to: OMIM:619721.0, H3-3B-related neurodevelopmental disorder, MONDO:0030607, H3F3B associated neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | GTF2IRD1 | Achchuthan Shanmugasundram edited their review of gene: GTF2IRD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GTF2IRD1-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:36308390). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03437.; Changed phenotypes to: MONDO:0700092, GTF2IRD1-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GTF2E2 | Achchuthan Shanmugasundram edited their review of gene: GTF2E2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GTF2E2-related DNA repair-proficient trichothiodystrophy are strong, biallelic_autosomal and undetermined (PMID:26996949). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01727.; Changed phenotypes to: GTF2E2-related DNA repair-proficient trichothiodystrophy, OMIM:616943.0, MONDO:0014841, DNA Repair-Proficient Trichothiodystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | GRIA4 | Achchuthan Shanmugasundram edited their review of gene: GRIA4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GRIA4-related neurodevelopmental disorder with or without seizures and gait abnormalities are limited, monoallelic_autosomal and undetermined (PMID:29220673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02815.; Changed phenotypes to: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, OMIM:617864, MONDO:0060641, GRIA4-related neurodevelopmental disorder with or without seizures and gait abnormalities, OMIM:617864.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | GOT2 | Achchuthan Shanmugasundram edited their review of gene: GOT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GOT2-related malate-aspartate shuttle-related encephalopathy are strong, biallelic_autosomal and undetermined (PMID:31422819). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02788.; Changed phenotypes to: GOT2-related malate-aspartate shuttle-related encephalopathy, Malate-Aspartate Shuttle-Related Encephalopathy, OMIM:618721.0, MONDO:0032880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | GLE1 | Achchuthan Shanmugasundram edited their review of gene: GLE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GLE1-related arthrogryposis, lethal, with anterior horn cell disease are definitive, biallelic_autosomal and undetermined (PMID:18204449). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01494.; Changed phenotypes to: ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, OMIM:611890, GLE1-related arthrogryposis, lethal, with anterior horn cell disease, OMIM:611890.0, MONDO:0012750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | GAD1 | Achchuthan Shanmugasundram edited their review of gene: GAD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GAD1-related cerebral palsy spastic quadriplegic are limited, biallelic_autosomal and undetermined (PMID:15571623). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00998.; Changed phenotypes to: OMIM:619124.0, GAD1-related cerebral palsy spastic quadriplegic, CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1, OMIM:603513, MONDO:0030856 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GABRG1 | Achchuthan Shanmugasundram edited their review of gene: GABRG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRG1-related epileptic encephalopathy are limited, monoallelic_autosomal and undetermined (PMID:36121006). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03350.; Changed phenotypes to: GABRG1-associated epileptic encephalopathy, MONDO:0100062, GABRG1-related epileptic encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | GABRB2 | Achchuthan Shanmugasundram edited their review of gene: GABRB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRB2-related epilepsy and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29100083). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02377.; Changed phenotypes to: Epilepsy and intellectual disability, GABRB2-related epilepsy and intellectual disability, OMIM:617829.0, MONDO:0020631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | GABBR1 | Achchuthan Shanmugasundram edited their review of gene: GABBR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABBR1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:36103875). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03347.; Changed phenotypes to: GABBR1-related neurodevelopmental disorder, OMIM:620502.0, GABBR1-associated neurodevelopmental disorder, MONDO:0957779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | FTO | Achchuthan Shanmugasundram edited their review of gene: FTO: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FTO-related growth retardation, developmental delay, coarse facies, and early death are limited, biallelic_autosomal and undetermined (PMID:19559399). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00102.; Changed phenotypes to: GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH, OMIM:612938, OMIM:612938.0, FTO-related growth retardation, developmental delay, coarse facies, and early death | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | FRMD5 | Achchuthan Shanmugasundram edited their review of gene: FRMD5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FRMD5-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:36206744). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03410.; Changed phenotypes to: FRMD5-related developmental disorder, OMIM:620094.0, MONDO:0859305 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | FOXI3 | Achchuthan Shanmugasundram edited their review of gene: FOXI3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FOXI3-related microtia and craniofacial microsomia are limited, monoallelic_autosomal and undetermined (PMID:36260083). The cross-cutting modifier is typified by incomplete penetrance. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03399.; Changed phenotypes to: OMIM:620444.0, MONDO:0958194, FOXI3-related microtia and craniofacial microsomia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | FOSL2 | Achchuthan Shanmugasundram edited their review of gene: FOSL2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FOSL2-related neurodevelopmental disorder with scalp and enamel defects are moderate, monoallelic_autosomal and undetermined (PMID:36197437). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03482.; Changed phenotypes to: MONDO:0968978, OMIM:620789.0, FOSL2-related neurodevelopmental disorder with scalp and enamel defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FN1 | Achchuthan Shanmugasundram edited their review of gene: FN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FN1-related spondylometaphyseal dysplasia with corner fractures are strong, monoallelic_autosomal and undetermined (PMID:29100092). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02384.; Changed phenotypes to: Spondylometaphyseal Dysplasia with Corner Fractures, OMIM:184255, OMIM:184255.0, FN1-related spondylometaphyseal dysplasia with corner fractures, MONDO:0008479 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | FICD | Achchuthan Shanmugasundram commented on gene: FICD: The DDG2P confidence category, allelic requirement and molecular mechanism for FICD-related infancy-onset diabetes and neurodevelopmental disorder are limited, biallelic_autosomal and loss of function (PMID:36704923). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03557. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | FUK | Achchuthan Shanmugasundram edited their review of gene: FUK: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FCSK-related congenital disorder of glycosylation are strong, biallelic_autosomal and undetermined (PMID:30503518). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02632.; Changed phenotypes to: OMIM:618324.0, FCSK-related congenital disorder of glycosylation, MONDO:0020777, CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | FBXW11 | Achchuthan Shanmugasundram edited their review of gene: FBXW11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXW11-related syndromic intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:31402090). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02790.; Changed phenotypes to: FBXW11-related syndromic intellectual disability, MONDO:0030057, OMIM:618914.0, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | FBLN1 | Achchuthan Shanmugasundram edited their review of gene: FBLN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBLN1-related synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses are limited, biallelic_autosomal and undetermined (PMID:11836357). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00356.; Changed publications to: 11836357; Changed phenotypes to: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, OMIM:608180, FBLN1-related synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses, MONDO:0011984, OMIM:608180.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FASN | Achchuthan Shanmugasundram edited their review of gene: FASN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FASN-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01238.; Changed phenotypes to: MONDO:0700092, FASN-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | EXTL3 | Achchuthan Shanmugasundram edited their review of gene: EXTL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EXTL3-related neuro immuno skeletal dysplasia syndrome are strong, biallelic_autosomal and undetermined (PMID:28132690). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02593.; Changed phenotypes to: OMIM:617425.0, EXTL3-related neuro immuno skeletal dysplasia syndrome, Neuro immuno skeletal Dysplasia Syndrome, MONDO:0044312 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EXOSC3 | Achchuthan Shanmugasundram edited their review of gene: EXOSC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EXOSC3-related pontocerebellar hypoplasia are definitive, biallelic_autosomal and undetermined (PMID:34085948). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00730.; Changed phenotypes to: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596, MONDO:0013853, OMIM:614678.0, EXOSC3-related pontocerebellar hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ERLIN2 | Achchuthan Shanmugasundram edited their review of gene: ERLIN2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ERLIN2-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00030.; Changed phenotypes to: OMIM:611225.0, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, ERLIN2-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ERBB3 | Achchuthan Shanmugasundram edited their review of gene: ERBB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ERBB3-related lethal congenital contracture syndrome are strong, biallelic_autosomal and undetermined (PMID:17701904). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01134. The DDG2P confidence category, allelic requirement and molecular mechanism for ERBB3-related Hirschprung disease with intestinal pseudo-obstruction are strong, biallelic_autosomal and undetermined (PMID:33497358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02558.; Changed publications to: 17701904, 33497358; Changed phenotypes to: Hirschprung disease with intestinal pseudo-obstruction, ERBB3-related Hirschprung disease with intestinal pseudo-obstruction, MONDO:0011868, MONDO:8000011, OMIM:243180.0, ERBB3-related lethal congenital contracture syndrome, OMIM:607598.0, LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2, OMIM:607598 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EPB41L3 | Achchuthan Shanmugasundram edited their review of gene: EPB41L3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EPB41L3-related developmental disorder with delayed myelination and seizures are moderate, biallelic_autosomal and loss of function (PMID:39292993). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03579.; Changed phenotypes to: MONDO:0100038, EPB41L3-related developmental disorder with delayed myelination and seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EPB41L1 | Achchuthan Shanmugasundram edited their review of gene: EPB41L1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EPB41L1-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:21376300). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01970.; Changed phenotypes to: OMIM:614257.0, EPB41L1-related intellectual disability, INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0013658 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ENTPD1 | Achchuthan Shanmugasundram edited their review of gene: ENTPD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ENTPD1-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01520.; Changed phenotypes to: MONDO:0700092, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, ENTPD1-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ELP2 | Achchuthan Shanmugasundram edited their review of gene: ELP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ELP2-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00778.; Changed phenotypes to: OMIM:617270.0, MONDO:0014996, ELP2-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF4A3 | Achchuthan Shanmugasundram edited their review of gene: EIF4A3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A3-related Richieri-Costa-Pereira syndrome are definitive, biallelic_autosomal and undetermined (PMID:24360810). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01453.; Changed phenotypes to: MONDO:0009998, RICHIERI-COSTA-PEREIRA SYNDROME, OMIM:268305, EIF4A3-related Richieri-Costa-Pereira syndrome, OMIM:268305.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF4A2 | Achchuthan Shanmugasundram edited their review of gene: EIF4A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy are moderate, monoallelic_autosomal and undetermined (PMID:36528028). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03471. The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A2-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:36528028). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03472.; Changed phenotypes to: MONDO:0957541, EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy, EIF4A2-related neurodevelopmental disorder, Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy, OMIM:620455.0, Autosomal recessive EIF4A2-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF2AK2 | Achchuthan Shanmugasundram edited their review of gene: EIF2AK2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF2AK2-related developmental delay, leukoencephalopathy, and neurologic decompensation are strong, monoallelic_autosomal and undetermined (PMID:32197074). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02948.; Changed phenotypes to: OMIM:618877.0, MONDO:0030035, EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation, EIF2AK2-related developmental delay, leukoencephalopathy, and neurologic decompensation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | EIF2AK1 | Achchuthan Shanmugasundram edited their review of gene: EIF2AK1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF2AK1-related neurodevelopmental syndrome are limited, monoallelic_autosomal and undetermined (PMID:32197074). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02947.; Changed phenotypes to: EIF2AK1-associated Neurodevelopmental Syndrome, MONDO:0030036, EIF2AK1-related neurodevelopmental syndrome, OMIM:618878.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | WDR34 | Achchuthan Shanmugasundram edited their review of gene: WDR34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DYNC2I2-related severe asphyxiating thoracic dysplasia are definitive, biallelic_autosomal and undetermined (PMID:24183449). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01550.; Changed phenotypes to: MONDO:0014287, OMIM:615633.0, DYNC2I2-related severe asphyxiating thoracic dysplasia, SEVERE ASPHYXIATING THORACIC DYSPLASIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | DSP | Achchuthan Shanmugasundram edited their review of gene: DSP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DSP-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03014.; Changed phenotypes to: DSP-related developmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DSE | Achchuthan Shanmugasundram edited their review of gene: DSE: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DSE-related Ehlers-Danlos syndrome, musculocontractural are limited, biallelic_autosomal and undetermined (PMID:23704329). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01694.; Changed phenotypes to: OMIM:615539.0, MONDO:0014236, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OMIM:615539, DSE-related Ehlers-Danlos syndrome, musculocontractural | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DPYSL5 | Achchuthan Shanmugasundram edited their review of gene: DPYSL5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DPYSL5-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMID:33894126). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02874.; Changed phenotypes to: DPYSL5-related developmental disorder, DPYSL5-related developmental disorder (monoallelic), MONDO:0030331, OMIM:619435.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | DNAAF5 | Achchuthan Shanmugasundram edited their review of gene: DNAAF5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNAAF5-related primary ciliary dyskinesia are strong, biallelic_autosomal and undetermined (PMID:23040496). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01197.; Changed phenotypes to: DNAAF5-related primary ciliary dyskinesia, MONDO:0013940, CILIARY DYSKINESIA, PRIMARY, 18, OMIM:614874, OMIM:614874.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | DLX5 | Achchuthan Shanmugasundram edited their review of gene: DLX5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DLX5-related split-hand and foot malformation are limited, biallelic_autosomal and undetermined (PMID:22121204). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00118.; Changed phenotypes to: DLX5-related split-hand and foot malformation, MONDO:0009080, SPLIT HAND AND FOOT MALFORMATION, OMIM:220600, OMIM:220600.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DLG2 | Achchuthan Shanmugasundram commented on gene: DLG2: The DDG2P confidence category, allelic requirement and molecular mechanism for DLG2-related neurodevelopmental disorder are limited, monoallelic_autosomal and undetermined (PMID:37860969). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03568. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DIP2C | Achchuthan Shanmugasundram commented on gene: DIP2C: The DDG2P confidence category, allelic requirement and molecular mechanism for DIP2C-related developmental disorder with speech delay are moderate, monoallelic_autosomal and loss of function (PMID:38421105). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03573. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DIP2B | Achchuthan Shanmugasundram edited their review of gene: DIP2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DIP2B-related intellectual developmental disorder, FRA12A type are limited, monoallelic_autosomal and undetermined (PMID:17236128). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01009.; Changed phenotypes to: OMIM:136630.0, DIP2B-related intellectual developmental disorder, FRA12A type, MONDO:0007634, INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE, OMIM:136630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHX37 | Achchuthan Shanmugasundram edited their review of gene: DHX37: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHX37-related intellectual disability and central nervous system anomalies are limited, biallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02755.; Changed phenotypes to: DHX37-related intellectual disability and central nervous system anomalies, MONDO:0032888, OMIM:618731.0, Intellectual Disability and Central Nervous System anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHX34 | Achchuthan Shanmugasundram edited their review of gene: DHX34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHX34-related intellectual disability are limited, biallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02758.; Changed phenotypes to: DHX34-related intellectual disability, INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHX30 | Achchuthan Shanmugasundram edited their review of gene: DHX30: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHX30-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMID:29100085). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02380.; Changed phenotypes to: Neurodevelopmental Disorder, DHX30-related neurodevelopmental disorder, MONDO:0060622, OMIM:617804.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHX16 | Achchuthan Shanmugasundram edited their review of gene: DHX16: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHX16-related intellectual disability, central nervous system anomalies and seizures are limited, monoallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02756.; Changed phenotypes to: Intellectual Disability, Central Nervous System anomalies and Seizures, DHX16-related intellectual disability, central nervous system anomalies and seizures, OMIM:618733.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHRS3 | Achchuthan Shanmugasundram edited their review of gene: DHRS3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHRS3 related craniosynostosis are limited, biallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02351.; Changed phenotypes to: MONDO:0015469, DHRS3 related craniosynostosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DHPS | Achchuthan Shanmugasundram edited their review of gene: DHPS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHPS-related neurodevelopmental disorder of hypusination are strong, biallelic_autosomal and undetermined (PMID:30661771). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02644.; Changed phenotypes to: Neurodevelopmental Disorder of Hypusination, DHPS-related neurodevelopmental disorder of hypusination, OMIM:618480.0, MONDO:0032775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | DHDDS | Achchuthan Shanmugasundram edited their review of gene: DHDDS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHDDS-related epilepsy and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29100083). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02379.; Changed phenotypes to: OMIM:617836.0, Epilepsy and intellectual disability, MONDO:0044326, DHDDS-related epilepsy and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DENND5B | Achchuthan Shanmugasundram commented on gene: DENND5B: The DDG2P confidence category, allelic requirement and molecular mechanism for DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities are limited, monoallelic_autosomal and loss of function (PMID:38387458). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03547. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | DDX6 | Achchuthan Shanmugasundram edited their review of gene: DDX6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX6-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:31422817). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02445.; Changed phenotypes to: MONDO:0032851, DDX6-related intellectual disability, INTELLECTUAL DISABILITY, OMIM:616579, OMIM:618653.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DDX59 | Achchuthan Shanmugasundram edited their review of gene: DDX59: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX59-related orofaciodigital syndrome are strong, biallelic_autosomal and undetermined (PMID:23972372). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01525.; Changed phenotypes to: MONDO:0008267, DDX59-related orofaciodigital syndrome, OMIM:174300.0, OROFACIODIGITAL SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DDX54 | Achchuthan Shanmugasundram edited their review of gene: DDX54: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX54-related intellectual disability and central nervous system anomalies are limited, biallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02757.; Changed phenotypes to: DDX54-related intellectual disability and central nervous system anomalies, Intellectual Disability and Central Nervous System anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DDX23 | Achchuthan Shanmugasundram edited their review of gene: DDX23: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX23-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02872.; Changed phenotypes to: DDX23-related developmental disorder (monoallelic), MONDO:0700092, DDX23-related 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 | DDB1 | Achchuthan Shanmugasundram edited their review of gene: DDB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDB1-related neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:33743206). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03117.; Changed phenotypes to: OMIM:619426.0, DDB1-associated neurodevelopmental syndrome, MONDO:0859169, DDB1-related neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DARS | Achchuthan Shanmugasundram edited their review of gene: DARS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DARS1-related hypomyelination with brain stem and spinal cord involvement and leg spasticity are definitive, biallelic_autosomal and undetermined (PMID:23643384). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01417.; Changed phenotypes to: DARS1-related hypomyelination with brain stem and spinal cord involvement and leg spasticity, MONDO:0014115, HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY., OMIM:615281, OMIM:615281.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DAG1 | Achchuthan Shanmugasundram edited their review of gene: DAG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DAG1-related muscular dystrophy-dystroglycanopathy limb-girdle are definitive, biallelic_autosomal and undetermined (PMID:21388311). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00925.; Changed phenotypes to: OMIM:613818.0, MONDO:0013440, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7, OMIM:613818, DAG1-related muscular dystrophy-dystroglycanopathy limb-girdle | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CYC1 | Achchuthan Shanmugasundram edited their review of gene: CYC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CYC1-related mitochondrial complex III deficiency, nuclear are definitive, biallelic_autosomal and undetermined (PMID:23910460). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00894.; Changed phenotypes to: OMIM:615453.0, CYC1-related mitochondrial complex III deficiency, nuclear, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OMIM:615453, MONDO:0014194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CUX2 | Achchuthan Shanmugasundram edited their review of gene: CUX2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CUX2-related developmental epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:29630738). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02420.; Changed phenotypes to: MONDO:0029138, OMIM:618141.0, CUX2-related developmental epileptic encephalopathy, Developmental epileptic encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CSNK1G1 | Achchuthan Shanmugasundram edited their review of gene: CSNK1G1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CSNK1G1-related early infantile epileptic encephalopathy and microcephaly are limited, monoallelic_autosomal and undetermined (PMID:24463883). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00754.; Changed phenotypes to: CSNK1G1-related early infantile epileptic encephalopathy and microcephaly, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CRLS1 | Achchuthan Shanmugasundram edited their review of gene: CRLS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRLS1-related mitochondrial disorder are limited, biallelic_autosomal and undetermined (PMID:35147173). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03459.; Changed phenotypes to: OMIM:620167.0, MONDO:0859337, CRLS1-related mitochondrial disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CPSF3 | Achchuthan Shanmugasundram edited their review of gene: CPSF3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CPSF3-related neurodevelopmental disorder with seizures and microcephaly are moderate, biallelic_autosomal and undetermined (PMID:35121750). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03239.; Changed phenotypes to: CPSF3-associated neurodevelopmental disorder with seizures and microcephaly, CPSF3-related neurodevelopmental disorder with seizures and microcephaly, MONDO:0859250, OMIM:619876.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | COQ5 | Achchuthan Shanmugasundram edited their review of gene: COQ5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COQ5-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00825.; Changed phenotypes to: MONDO:0700092, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, COQ5-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | COPB1 | Achchuthan Shanmugasundram edited their review of gene: COPB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly are limited, biallelic_autosomal and undetermined (PMID:33632302). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03110.; Changed phenotypes to: COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly, MONDO:0031002, OMIM:619255.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CLPP | Achchuthan Shanmugasundram edited their review of gene: CLPP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLPP-related Perrault syndrome are strong, biallelic_autosomal and undetermined (PMID:23541340). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00456.; Changed phenotypes to: OMIM:614129.0, CLPP-related Perrault syndrome, MONDO:0013588, PERRAULT SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CLP1 | Achchuthan Shanmugasundram edited their review of gene: CLP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLP1-related pontocerebellar hypoplasia are strong, biallelic_autosomal and undetermined (PMID:24766809). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00820.; Changed phenotypes to: PONTOCEREBELLAR HYPOPLASIA, TYPE 10, OMIM:615803, CLP1-related pontocerebellar hypoplasia, OMIM:615803.0, MONDO:0014349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CLIC2 | Achchuthan Shanmugasundram edited their review of gene: CLIC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLIC2-related intellectual developmental disorder are limited, monoallelic_X_hemizygous and undetermined (PMID:22814392). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01667.; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER, X-linked, syndromic 32, OMIM:300886, CLIC2-related intellectual developmental disorder, OMIM:300886.0, MONDO:0010473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CLDN19 | Achchuthan Shanmugasundram edited their review of gene: CLDN19: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLDN19-related hypomagnesemia with ocular involvement are definitive, biallelic_autosomal and undetermined (PMID:17033971). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00685.; Changed phenotypes to: OMIM:248190.0, MONDO:0009548, CLDN19-related hypomagnesemia with ocular involvement, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CIT | Achchuthan Shanmugasundram edited their review of gene: CIT: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CIT-related primary microcephaly are strong, biallelic_autosomal and undetermined (PMID:27453578). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01871.; Changed phenotypes to: CIT-related primary microcephaly, PRIMARY MICROCEPHALY, OMIM:615414, OMIM:617090.0, MONDO:0014908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CHRM1 | Achchuthan Shanmugasundram edited their review of gene: CHRM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CHRM1-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:34212451). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03213.; Changed phenotypes to: CHRM1-related intellectual disability, MONDO:0001071, CHRM1-associated intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CFL2 | Achchuthan Shanmugasundram edited their review of gene: CFL2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CFL2-related nemaline myopathy are strong, biallelic_autosomal and undetermined (PMID:17160903). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00394.; Changed phenotypes to: CFL2-related nemaline myopathy, MONDO:0012538, OMIM:610687.0, NEMALINE MYOPATHY 7, OMIM:610687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CELSR1 | Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CELSR1-related fetal hydrops are limited, monoallelic_autosomal and loss of function (PMID:38272662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03683.; Changed phenotypes to: MONDO:0015193, CELSR1-related fetal hydrops | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CDON | Achchuthan Shanmugasundram edited their review of gene: CDON: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDON-related holoprosencephaly are definitive, monoallelic_autosomal and undetermined (PMID:21802063). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00943.; Changed phenotypes to: HOLOPROSENCEPHALY 11, OMIM:614226, MONDO:0013642, OMIM:614226.0, CDON-related holoprosencephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CDK8 | Achchuthan Shanmugasundram edited their review of gene: CDK8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDK8-related syndromic intellectual disability are definitive, monoallelic_autosomal and undetermined (PMID:30905399). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02783.; Changed phenotypes to: MONDO:0032897, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100, CDK8-related syndromic intellectual disability, OMIM:618748.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CDK19 | Achchuthan Shanmugasundram edited their review of gene: CDK19: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDK19-related intellectual disability and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:32330417). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02961.; Changed phenotypes to: CDK19-associated Intellectual Disability and Epileptic Encephalopathy, CDK19-related intellectual disability and epileptic encephalopathy, OMIM:618916.0, MONDO:0030059 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CDH1 | Achchuthan Shanmugasundram edited their review of gene: CDH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDH1-related blepharo-cheiro-dontic syndrome are definitive, monoallelic_autosomal and undetermined (PMID:29348693). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01974.; Changed phenotypes to: Blepharo-cheiro-dontic syndrome, OMIM:119580.0, CDH1-related blepharo-cheiro-dontic syndrome, MONDO:0054740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CDC40 | Achchuthan Shanmugasundram edited their review of gene: CDC40: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDC40-related neurodegenerative pontocerebellar hypoplasia with microcephaly are limited, biallelic_autosomal and undetermined (PMID:33220177). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03070.; Changed phenotypes to: CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly, CDC40-related neurodegenerative pontocerebellar hypoplasia with microcephaly, OMIM:619302.0, MONDO:0030259 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CBFB | Achchuthan Shanmugasundram edited their review of gene: CBFB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CBFB-related cleidocranial dysplasia are moderate, monoallelic_autosomal and undetermined (PMID:36241386). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03513.; Changed phenotypes to: OMIM:620099.0, CBFB-related cleidocranial dysplasia, MONDO:0859307 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | CACNA2D1 | Achchuthan Shanmugasundram edited their review of gene: CACNA2D1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CACNA2D1-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:35293990). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03462.; Changed phenotypes to: CACNA2D1-related neurodevelopmental disorder, MONDO:0859327, OMIM:620149.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | C1QBP | Achchuthan Shanmugasundram edited their review of gene: C1QBP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for C1QBP-related severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies are strong, biallelic_autosomal and undetermined (PMID:28942965). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02371.; Changed phenotypes to: Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies, MONDO:0054677, OMIM:617713.0, C1QBP-related severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | BSN | Achchuthan Shanmugasundram edited their review of gene: BSN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BSN-related epilepsy are limited, monoallelic_autosomal and undetermined (PMID:36600631). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03460. The DDG2P confidence category, allelic requirement and molecular mechanism for BSN-related epilepsy are limited, biallelic_autosomal and undetermined (PMID:36600631). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03461.; Changed phenotypes to: BSN-related epilepsy, MONDO:0005027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | BORCS8 | Achchuthan Shanmugasundram edited their review of gene: BORCS8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease are moderate, biallelic_autosomal and loss of function (PMID:38128568). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03556.; Changed phenotypes to: OMIM:620987.0, BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease, MONDO:0975837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | BICD2 | Achchuthan Shanmugasundram edited their review of gene: BICD2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BICD2-related proximal spinal muscular atrophy with brain anomalies are definitive, monoallelic_autosomal and undetermined (PMID:23664120). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00609.; Changed phenotypes to: OMIM:615290.0, BICD2-related proximal spinal muscular atrophy with brain anomalies, Proximal spinal muscular atrophy with brain anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | BAP1 | Achchuthan Shanmugasundram edited their review of gene: BAP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BAP1-related neurodevelopmental syndrome are moderate, monoallelic_autosomal and undetermined (PMID:35051358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03243.; Changed phenotypes to: MONDO:0859230, BAP1-associated neurodevelopmental syndrome, BAP1-related neurodevelopmental syndrome, OMIM:619762.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | B3GAT3 | Achchuthan Shanmugasundram edited their review of gene: B3GAT3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for B3GAT3-related multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects are limited, biallelic_autosomal and undetermined (PMID:31438591). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02786.; Changed phenotypes to: MONDO:0009511, OMIM:245600.0, B3GAT3-related multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS, OMIM:245600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ATP6V1E1 | Achchuthan Shanmugasundram edited their review of gene: ATP6V1E1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V1E1-related cutis laxa are strong, biallelic_autosomal and undetermined (PMID:28065471). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02591.; Changed phenotypes to: OMIM:617402.0, ATP6V1E1-related cutis laxa, MONDO:0027462, Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ATP5D | Achchuthan Shanmugasundram edited their review of gene: ATP5D: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP5F1D-related metabolic disorder are strong, biallelic_autosomal and undetermined (PMID:29478781). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02597.; Changed phenotypes to: OMIM:618120.0, MONDO:0020858, ATP5F1D-related metabolic disorder, ATP5F1D metabolic disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ATP1A1 | Achchuthan Shanmugasundram edited their review of gene: ATP1A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP1A1-related renal hypomagnesemia refractory seizures and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:30388404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02626.; Changed phenotypes to: ATP1A1-related renal hypomagnesemia refractory seizures and intellectual disability, MONDO:0020788, Renal Hypomagnesemia Refractory Seizures and Intellectual Disability, OMIM:618314.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ATN1 | Achchuthan Shanmugasundram edited their review of gene: ATN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATN1-related congenital hypotonia, epilepsy, developmental delay, digit abnormalities are strong, monoallelic_autosomal and undetermined (PMID:30827498). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02647.; Changed phenotypes to: MONDO:0032781, ATN1-related congenital hypotonia, epilepsy, developmental delay, digit abnormalities, congenital hypotonia, epilepsy, developmental delay, digit abnormalities, OMIM:618494.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ATG4D | Achchuthan Shanmugasundram edited their review of gene: ATG4D: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATG4D-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:36765070). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03428.; Changed phenotypes to: ATG4D-related neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ASCL1 | Achchuthan Shanmugasundram edited their review of gene: ASCL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ASCL1-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00387.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0700092, ASCL1-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ASCC3 | Achchuthan Shanmugasundram edited their review of gene: ASCC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ASCC3-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00133.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, ASCC3-related intellectual developmental disorder, OMIM:620700.0, MONDO:0958204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ARL3 | Achchuthan Shanmugasundram edited their review of gene: ARL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARL3-related Joubert syndrome are strong, biallelic_autosomal and undetermined (PMID:30269812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02622.; Changed phenotypes to: ARL3-related Joubert syndrome, MONDO:0032570, JOUBERT SYNDROME, OMIM:614615, OMIM:618161.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ARL14EP | Achchuthan Shanmugasundram edited their review of gene: ARL14EP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARL14EP-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00194.; Changed phenotypes to: MONDO:0700092, ARL14EP-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | AP2S1 | Achchuthan Shanmugasundram edited their review of gene: AP2S1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AP2S1-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02867.; Changed phenotypes to: AP2S1-related developmental disorder, MONDO:0700092, AP2S1-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | AP2M1 | Achchuthan Shanmugasundram edited their review of gene: AP2M1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AP2M1-related developmental and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:31104773). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02769.; Changed phenotypes to: MONDO:0032823, Developmental and Epileptic Encephalopathy, AP2M1-related developmental and epileptic encephalopathy, OMIM:618587.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ANGPT2 | Achchuthan Shanmugasundram commented on gene: ANGPT2: The DDG2P confidence category, allelic requirement and molecular mechanism for ANGPT2-related non-immune hydrops fetalis are limited, biallelic_autosomal and loss of function (PMID:34876502). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03493. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | AMOTL1 | Achchuthan Shanmugasundram edited their review of gene: AMOTL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature are moderate, monoallelic_autosomal and undetermined (PMID:36751037). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03429.; Changed phenotypes to: AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature, MONDO:0971064 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ALDH1A2 | Achchuthan Shanmugasundram edited their review of gene: ALDH1A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia are strong, biallelic_autosomal and undetermined (PMID:33565183). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03158.; Changed phenotypes to: MONDO:0859571, OMIM:620025.0, ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ALAD | Achchuthan Shanmugasundram edited their review of gene: ALAD: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALAD-related acute hepatic porphyria are limited, biallelic_autosomal and undetermined (PMID:2063868). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00549.; Changed phenotypes to: ALAD-related acute hepatic porphyria, ACUTE HEPATIC PORPHYRIA, OMIM:612740, MONDO:0013000, OMIM:612740.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | AGO1 | Achchuthan Shanmugasundram edited their review of gene: AGO1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AGO1-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMID:35060114). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02852.; Changed phenotypes to: AGO1-related developmental disorder (monoallelic), AGO1-related developmental disorder, OMIM:620292.0, MONDO:0859531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ADRA2B | Achchuthan Shanmugasundram edited their review of gene: ADRA2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADRA2B-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00688.; Changed phenotypes to: ADRA2B-related intellectual developmental disorder, MONDO:0700092, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ADK | Achchuthan Shanmugasundram edited their review of gene: ADK: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADK-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00813.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614300.0, MONDO:0100255, ADK-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ADCY5 | Achchuthan Shanmugasundram edited their review of gene: ADCY5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADCY5-related developmental disorder are strong, monoallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02885.; Changed phenotypes to: ADCY5-related developmental disorder, MONDO:0700092, ADCY5-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ADARB1 | Achchuthan Shanmugasundram edited their review of gene: ADARB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADARB1-related microcephaly, intellectual disability, and seizures are limited, biallelic_autosomal and undetermined (PMID:32220291). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02943.; Changed phenotypes to: ADARB1-related microcephaly, intellectual disability, and seizures, OMIM:618862.0, MONDO:0030025, ADARB1-associated Microcephaly, Intellectual Disability, and Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ADAMTS9 | Achchuthan Shanmugasundram edited their review of gene: ADAMTS9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADAMTS9-related nephronophthisis related ciliopathy are strong, biallelic_autosomal and undetermined (PMID:30609407). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02635.; Changed phenotypes to: MONDO:0009728, ADAMTS9-related nephronophthisis related ciliopathy, Nephronophthisis Related Ciliopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ACTA2 | Achchuthan Shanmugasundram edited their review of gene: ACTA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACTA2-related Moyamoya disease are strong, monoallelic_autosomal and undetermined (PMID:35567597). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00398.; Changed phenotypes to: MONDO:0013542, OMIM:614042.0, MOYAMOYA DISEASE 5, OMIM:614042, ACTA2-related Moyamoya disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ACTA1 | Achchuthan Shanmugasundram edited their review of gene: ACTA1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACTA1-related nemaline myopathy are strong, biallelic_autosomal and undetermined (PMID:10508519). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01161.; Changed phenotypes to: OMIM:161800.0, ACTA1-related nemaline myopathy, MONDO:0008070, NEMALINE MYOPATHY 3, OMIM:161800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ACADS | Achchuthan Shanmugasundram edited their review of gene: ACADS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACADS-related short chain acyl-CoA dehydrogenase deficiency are definitive, biallelic_autosomal and undetermined (PMID:2808706). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00672.; Changed phenotypes to: OMIM:201470.0, MONDO:0008722, SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, OMIM:201470, ACADS-related short chain acyl-CoA dehydrogenase deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v6.17 | ABCB6 | Achchuthan Shanmugasundram edited their review of gene: ABCB6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ABCB6-related microphthalmia, isolated, with coloboma are limited, monoallelic_autosomal and undetermined (PMID:22226084). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00318.; Changed phenotypes to: OMIM:614497.0, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, OMIM:614497, ABCB6-related microphthalmia, isolated, with coloboma, MONDO:0013783 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | ZNF335 |
Achchuthan Shanmugasundram gene: ZNF335 was added gene: ZNF335 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF335 were set to 38549403; 27540107; 29652087; 23178126; 40583037; 33216650; 34982360; 31187448 Phenotypes for gene: ZNF335 were set to MONDO:0014043; ZNF335-related microcephaly, epilepsy, cerebral and/or cerebellar atrophy and short stature; OMIM:615095.0 |
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| DDG2P v6.16 | UNC13A |
Achchuthan Shanmugasundram gene: UNC13A was added gene: UNC13A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC13A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UNC13A were set to 41125872; 27648472; 28192369; 36447687 Phenotypes for gene: UNC13A were set to UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder; MONDO:0100038; UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements |
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| DDG2P v6.16 | SPTSSA |
Achchuthan Shanmugasundram gene: SPTSSA was added gene: SPTSSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTSSA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTSSA were set to 36718090 Phenotypes for gene: SPTSSA were set to OMIM:620416.0; MONDO:0957308; SPTSSA-related complex hereditary spastic paraplegia |
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| DDG2P v6.16 | SNUPN |
Achchuthan Shanmugasundram gene: SNUPN was added gene: SNUPN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNUPN were set to 38366623; 38413582 Phenotypes for gene: SNUPN were set to SNUPN-related muscular dystrophy with or without multi-system involvement; MONDO:0971171 |
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| DDG2P v6.16 | SLC39A14 |
Achchuthan Shanmugasundram gene: SLC39A14 was added gene: SLC39A14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A14 were set to 36247901; 27231142; 36138644 Phenotypes for gene: SLC39A14 were set to MONDO:0014864; OMIM:617013.0; SLC39A14-related early onset dystonia parkinsonism |
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| DDG2P v6.16 | RREB1 |
Achchuthan Shanmugasundram gene: RREB1 was added gene: RREB1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RREB1 were set to 38332451; 40418122 Phenotypes for gene: RREB1 were set to RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay |
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| DDG2P v6.16 | RCC1 |
Achchuthan Shanmugasundram gene: RCC1 was added gene: RCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RCC1 were set to 40683276 Phenotypes for gene: RCC1 were set to RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy |
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| DDG2P v6.16 | RBCK1 |
Achchuthan Shanmugasundram gene: RBCK1 was added gene: RBCK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 35017290; 38077957; 38329383; 38588043; 38922716; 32187699; 23798481 Phenotypes for gene: RBCK1 were set to RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency; MONDO:0014389; OMIM:615895.0 |
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| DDG2P v6.16 | PLXNB2 |
Achchuthan Shanmugasundram gene: PLXNB2 was added gene: PLXNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXNB2 were set to 38458752 Phenotypes for gene: PLXNB2 were set to PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability |
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| DDG2P v6.16 | PLD1 |
Achchuthan Shanmugasundram gene: PLD1 was added gene: PLD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD1 were set to 39553471; 27799408; 33645542; 39681445; 37770978 Phenotypes for gene: PLD1 were set to MONDO:0008913; OMIM:212093.0; PLD1-related cardiac valvular dysplasia |
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| DDG2P v6.16 | PISD |
Achchuthan Shanmugasundram gene: PISD was added gene: PISD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PISD were set to 38801004; 31263216; 30858161; 30488656 Phenotypes for gene: PISD were set to OMIM:618889.0; MONDO:0030045; PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function |
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| DDG2P v6.16 | PARS2 |
Achchuthan Shanmugasundram gene: PARS2 was added gene: PARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARS2 were set to 29410512; 32514400; 28077841; 39253392; 37956963; 38469956; 25629079; 29915213; 38087948 Phenotypes for gene: PARS2 were set to MONDO:0032752; PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy; OMIM:618437.0 |
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| DDG2P v6.16 | NUP188 |
Achchuthan Shanmugasundram gene: NUP188 was added gene: NUP188 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to 32021605; 32275884 Phenotypes for gene: NUP188 were set to OMIM:618804.0; NUP188-related neurodegeneration, cataracts and facial dysmorphisms; MONDO:0032926 |
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| DDG2P v6.16 | NUDCD2 |
Achchuthan Shanmugasundram gene: NUDCD2 was added gene: NUDCD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDCD2 were set to 37272762 Phenotypes for gene: NUDCD2 were set to NUDCD2-related brain and cardiac malformations with cholestasis and renal failure |
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| DDG2P v6.16 | MARK4 |
Achchuthan Shanmugasundram gene: MARK4 was added gene: MARK4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MARK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MARK4 were set to 38041405 Phenotypes for gene: MARK4 were set to MONDO:0700092; MARK4-related neurodevelopmental disorder Mode of pathogenicity for gene: MARK4 was set to Other |
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| DDG2P v6.16 | MAP3K20 |
Achchuthan Shanmugasundram gene: MAP3K20 was added gene: MAP3K20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP3K20 were set to 26755636; 32021595; 38451290; 27816943 Phenotypes for gene: MAP3K20 were set to MONDO:0054695; MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies; OMIM:617760.0; MAP3K20-related centronuclear myopathy; OMIM:616890.0; MAP3K20-related split-foot malformation with mesoaxial polydactyly; MONDO:0014816 |
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| DDG2P v6.16 | KNL1 |
Achchuthan Shanmugasundram gene: KNL1 was added gene: KNL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KNL1 were set to 26621532; 37937525; 27149178; 26626498; 27784895; 22983954 Phenotypes for gene: KNL1 were set to MONDO:0011437; KNL1-related primary microcephaly; OMIM:604321.0 |
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| DDG2P v6.16 | HEATR5B |
Achchuthan Shanmugasundram gene: HEATR5B was added gene: HEATR5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEATR5B were set to 38622473; 33824466 Phenotypes for gene: HEATR5B were set to HEATR5B-related pontocerebellar hypoplasia |
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| DDG2P v6.16 | GTF3C5 |
Achchuthan Shanmugasundram gene: GTF3C5 was added gene: GTF3C5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTF3C5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3C5 were set to 38520561 Phenotypes for gene: GTF3C5 were set to GTF3C5-related neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss; MONDO:0100038 |
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| DDG2P v6.16 | GTF3C3 |
Achchuthan Shanmugasundram gene: GTF3C3 was added gene: GTF3C3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3C3 were set to 39636576 Phenotypes for gene: GTF3C3 were set to GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy; MONDO:0100038 |
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| DDG2P v6.16 | GSC |
Achchuthan Shanmugasundram gene: GSC was added gene: GSC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSC were set to 24290375 Phenotypes for gene: GSC were set to MONDO:0011227; OMIM:602471.0; GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) |
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| DDG2P v6.16 | EIF3B |
Achchuthan Shanmugasundram gene: EIF3B was added gene: EIF3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF3B were set to 41033306 Phenotypes for gene: EIF3B were set to EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism |
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| DDG2P v6.16 | EIF3A |
Achchuthan Shanmugasundram gene: EIF3A was added gene: EIF3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF3A were set to 41033306 Phenotypes for gene: EIF3A were set to EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism; MONDO:0100038 |
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| DDG2P v6.16 | CIAO1 |
Achchuthan Shanmugasundram gene: CIAO1 was added gene: CIAO1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIAO1 were set to 38950322; 38411040 Phenotypes for gene: CIAO1 were set to CIAO1-related neuromuscular disorder with intellectual disability; MONDO:0975806 |
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| DDG2P v6.16 | CELSR3 |
Achchuthan Shanmugasundram gene: CELSR3 was added gene: CELSR3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CELSR3 were set to 38429302 Phenotypes for gene: CELSR3 were set to CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities; MONDO:0100038 |
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| DDG2P v6.16 | ADAMTS19 |
Achchuthan Shanmugasundram gene: ADAMTS19 was added gene: ADAMTS19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS19 were set to 32323311; 31844321 Phenotypes for gene: ADAMTS19 were set to OMIM:620067.0; MONDO:0859572; ADAMTS19-related cardiac valvular dysplasia |
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| DDG2P v6.16 | ADAMTS15 |
Achchuthan Shanmugasundram gene: ADAMTS15 was added gene: ADAMTS15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS15 were set to 35962790 Phenotypes for gene: ADAMTS15 were set to MONDO:0957819; ADAMTS15-related distal arthrogryposis; OMIM:620545.0 |
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| DDG2P v6.13 | PAN2 | Achchuthan Shanmugasundram Phenotypes for gene: PAN2 were changed from PAN2-related neurodevelopmental disorder with multiple congenital anomalies to PAN2-related neurodevelopmental disorder with multiple congenital anomalies; Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.12 | AMOTL1 | Achchuthan Shanmugasundram Phenotypes for gene: AMOTL1 were changed from tall stature; cardiac anomalies; orofacial clefting; AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature to AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature; Craniofaciocardiohepatic syndrome, OMIM:621192; craniofaciocardiohepatic syndrome, MONDO:0978295 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.11 | GON4L | Achchuthan Shanmugasundram Phenotypes for gene: GON4L were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; Li-Takada-Miyake syndrome, OMIM:621212; Li-Takada-Miyake syndrome, MONDO:0978303 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.10 | TBC1D32 | Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from TBC1D32-related ciliopathy; Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 to TBC1D32-related ciliopathy; Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.8 | AP1B1 |
Ida Ertmanska changed review comment from: PMID: 31630791 Alsaif et al., 2019 Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss. Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings. Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome. PMID: 33452671 Vornweg et al., 2021 Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin. PMID: 33349978 Ito et al., 2021 Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618* and 2677C>T p.Gln893*. Method: WES. Presented with ichthyosis, moderate motor & mental retardation, failed the auditory brainstem response test bilatreally. Low calcium and serum copper levels. PMID: 32969855 Meriç et al., 2021 11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits. PMID: 35144013 Faghihi et al., 2022 Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, and hearing loss. Plasma copper (9 mmol/L) was decreased on several occasions. AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025).; to: PMID: 31630791 Alsaif et al., 2019 Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss. Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings. Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome. PMID: 33452671 Vornweg et al., 2021 Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin. PMID: 33349978 Ito et al., 2021 Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618* and 2677C>T p.Gln893*. Method: WES. Presented with ichthyosis, moderate motor & mental retardation, failed the auditory brainstem response test bilatreally. Low calcium and serum copper levels. PMID: 32969855 Meriç et al., 2021 11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits. PMID: 35144013 Faghihi et al., 2022 Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, and hearing loss. Plasma copper (9 mmol/L) was decreased on several occasions. AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025). This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024). |
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| DDG2P v6.8 | PDE6H | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Ronnie Wright, this gene does not fit into the scope of developmental disorders, particularly in the context of R27 Paediatric disorders clinical indication. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Hence, the rating with stay green, pending updates from G2P.; to: Comment on list classification: As reviewed by Ronnie Wright, this gene does not fit into the scope of developmental disorders, particularly in the context of R27 Paediatric disorders clinical indication. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Hence, the rating should stay green, pending updates from G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.8 | LBX1 |
Achchuthan Shanmugasundram commented on gene: LBX1: The DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). This gene has been added with amber rating on R333 Central congenital hypoventilation panel (https://panelapp.genomicsengland.co.uk/panels/1314/gene/LBX1/) as this phenotype clearly fits into the scope of R333 clinical indication. The 'curated_removed' tag has been added so that this gene won't be relevant on this panel until it is added to the DD panel on G2P resource. |
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| DDG2P v6.6 | PDE6H | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ronnie Wright, this gene does not fit into the scope of developmental disorders, particularly in the context of R27 Paediatric disorders clinical indication. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Hence, the rating with stay green, pending updates from G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | TSPAN7 | Ida Ertmanska changed review comment from: Comment on list classification: There are at least 7 unrelated individuals reported with mild to moderate intellectual disability with either LoF variants in TSPAN7, TSPAN7 duplication, or balanced translocations with a breakpoint within the TSPAN7 sequence. However, phenotype in most of the affected individuals does not meet the eligibility criteria of moderate/severe/profound global developmental delay/intellectual disability. There is also conflicting evidence for pathogenicity of the reported variants, including high population allele frequencies, predicted NMD escape, and sequencing method limitations. Based on the available evidence, the gene should be rated Amber for Intellectual disability.; to: Comment on list classification: There are at least 7 unrelated individuals reported with mild to moderate intellectual disability with either LoF variants in TSPAN7, TSPAN7 duplication, or balanced translocations with a breakpoint within the TSPAN7 sequence. However, phenotype in most of the affected individuals does not meet the eligibility criteria of moderate/severe/profound global developmental delay/intellectual disability. There is also conflicting evidence for pathogenicity of the reported variants, including high population allele frequencies, predicted NMD escape, and sequencing method limitations. Based on the available evidence, we decided to demote this gene to Amber for Intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | LBX1 |
Ian Berry gene: LBX1 was added gene: LBX1 was added to DDG2P. Sources: Expert Review Mode of inheritance for gene: LBX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LBX1 were set to PMID: 30487221 Penetrance for gene: LBX1 were set to Complete Review for gene: LBX1 was set to GREEN gene: LBX1 was marked as current diagnostic Added comment: Single sib-pair in PMID: 30487221 with congenital central hypoventilation syndrome, 1bp resulting in a frameshift in the terminal exon. Mouse model of the same variant expressed a protein with an altered C-terminal and replicated the human phenotype. Subsequent unpublished studies (in process of publication): 2 further cases in CVA/GEL dataset with comparable phenotypes, 2 further probands (with segregation) in other families via multinational collaboration. All cases appear to have the same variant NM_006562.5: c.707del p.(Val236Alafs*59) which may be a Roma founder. Sources: Expert Review |
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| DDG2P v6.5 | TNFRSF13B | Arina Puzriakova Added comment: Comment on list classification: The content of this panel reflects genes and classifications assigned by Gene2Phenotype on their DDG2P panel. 'TNFRSF13B-related immunodeficiency, common variable' is currently classified as 'strong' (https://www.ebi.ac.uk/gene2phenotype/gene/TNFRSF13B) which maps to the PanelApp rating of Green - therefore this rating will be maintained on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.4 | PDE1B |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype (G2P) on their DDG2P panel. PDE1B is currently not associated with any disease models in G2P and therefore the grey rating will be maintained on this panel at this time. PDE1B has already been curated on other GMS panels with a green recommendation (Childhood onset dystonia, chorea or related movement disorder and Ataxia and cerebellar anomalies) to capture the evidence and ensure inclusion of this gene in the NHS GMS. |
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| DDG2P v6.1 | PDE1B |
Sarah Dixon gene: PDE1B was added gene: PDE1B was added to DDG2P. Sources: Literature Mode of inheritance for gene: PDE1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE1B were set to PMID: 40492975 Phenotypes for gene: PDE1B were set to hypotonia; ataxia; dystonia; developmental delay; intellectual disability Penetrance for gene: PDE1B were set to unknown Review for gene: PDE1B was set to GREEN Added comment: PMID: 40492975 Biallelic LOF variants in PDE1B identified in seven individuals from five different families Disorder characterized by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with developmental delay and intellectual disability Sources: Literature |
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| DDG2P v5.46 | DHX9 | Achchuthan Shanmugasundram Phenotypes for gene: DHX9 were changed from DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease to DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.45 | HYAL2 | Achchuthan Shanmugasundram Phenotypes for gene: HYAL2 were changed from HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies to HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.44 | CRYAB | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CRYAB-related alpha-related B crystallinopathy is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 14681890;21130652;21337604;570292;28493373;9731540;23590293;19597569;30681346;16877416;16505043;38212463;32420686;11577372;21920752). The DDG2P confidence category for the disease CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 21337604).; to: The DDG2P confidence category for the disease CRYAB-related alpha-related B crystallinopathy is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typified by age related penetrance (PMID: 14681890;21130652;21337604;570292;28493373;9731540;23590293;19597569;30681346;16877416;16505043;38212463;32420686;11577372;21920752). The DDG2P confidence category for the disease CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 21337604). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.44 | LAMP2 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease LAMP2-related Danon disease is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure;decreased gene product level (PMID: 19057086;3087571;8504498;15253947;30681346;19588270;20173215;10972294;15673802;12112061;15907287;30857840;16217705).; to: The DDG2P confidence category for the disease LAMP2-related Danon disease is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure;decreased gene product level. This gene is typified by age related penetrance (PMID: 19057086;3087571;8504498;15253947;30681346;19588270;20173215;10972294;15673802;12112061;15907287;30857840;16217705). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.44 | FXN | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FXN-related Friedreich ataxia is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 28405347;25566998;30681346;24705334;10633128;22409940;26704351;22691228).; to: The DDG2P confidence category for the disease FXN-related Friedreich ataxia is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level. This gene is typified by age related penetrance (PMID: 28405347;25566998;30681346;24705334;10633128;22409940;26704351;22691228). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.44 | AFF3 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease AFF3-related intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38811945). The DDG2P confidence category for the disease AFF3-related KINSSHIP syndrome, OMIM:619297 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33961779;36576140;38811945).; to: The DDG2P confidence category for the disease AFF3-related intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level. It shows incomplete penetrance (PMID: 38811945). The DDG2P confidence category for the disease AFF3-related KINSSHIP syndrome, OMIM:619297 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33961779;36576140;38811945). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.44 | NPRL3 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease NPRL3-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level (PMID: 27173016;34965576;26786403;35136953;34868250;26285051;26505888).; to: The DDG2P confidence category for the disease NPRL3-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level. This gene shows incomplete penetrance (PMID: 27173016;34965576;26786403;35136953;34868250;26285051;26505888). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.44 | NPRL2 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease NPRL2-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level (PMID: 37259768;28199897;34965576;34376795;26505888;30093711;31835056;27173016).; to: The DDG2P confidence category for the disease NPRL2-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level. This gene shows incomplete penetrance (PMID: 37259768;28199897;34965576;34376795;26505888;30093711;31835056;27173016). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.43 | CCT8 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CCT8-related neurodevelopmental disorder with brain abnormalities is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: ).; to: The DDG2P confidence category for the disease CCT8-related neurodevelopmental disorder with brain abnormalities is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.43 | XYLT1 | Achchuthan Shanmugasundram Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 to XYLT1-related Desbuquois dysplasia, OMIM:615777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.40 | USP14 | Achchuthan Shanmugasundram Phenotypes for gene: USP14 were changed from DISTAL ARTHROGRYPOSIS to USP14-related syndromic neurodevelopmental disorder with arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.38 | USP14 | Achchuthan Shanmugasundram edited their review of gene: USP14: Changed phenotypes to: USP14-related syndromic neurodevelopmental disorder with arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.38 | SMARCA2 | Achchuthan Shanmugasundram Phenotypes for gene: SMARCA2 were changed from COFFIN SIRIS 135900; NICOLAIDES-BARAITSER SYNDROME 601358 to SMARCA2-related Nicolaides-Baraitser syndrome, OMIM:601358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.37 | SMARCA2 | Achchuthan Shanmugasundram Publications for gene: SMARCA2 were set to 32694869; 19606471; 22366787; 22426308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.36 | SMARCA2 | Achchuthan Shanmugasundram edited their review of gene: SMARCA2: Changed phenotypes to: SMARCA2-related Nicolaides-Baraitser syndrome, OMIM:601358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.36 | PIK3CA | Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 to PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.35 | PIK3CA | Achchuthan Shanmugasundram edited their review of gene: PIK3CA: Changed phenotypes to: PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.32 | PCGF2 | Achchuthan Shanmugasundram Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features to PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.31 | PCGF2 | Achchuthan Shanmugasundram edited their review of gene: PCGF2: Changed phenotypes to: PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.31 | OPHN1 | Achchuthan Shanmugasundram Phenotypes for gene: OPHN1 were changed from MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486 to OPHN1-related intellectual developmental disorder, OMIM:300486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.25 | MYH9 | Achchuthan Shanmugasundram Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622; SEBASTIAN SYNDROME 155100; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100; EPSTEIN SYNDROME 155100; MAY-HEGGLIN ANOMALY 155100; FECHTNER SYNDROME 155100 to MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.24 | MYH9 | Achchuthan Shanmugasundram edited their review of gene: MYH9: Changed phenotypes to: MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.24 | MAF | Achchuthan Shanmugasundram Phenotypes for gene: MAF were changed from Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 to MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088; MAF-related cataract, OMIM:610202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.22 | MAF | Achchuthan Shanmugasundram edited their review of gene: MAF: Changed phenotypes to: MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088, MAF-related cataract, OMIM:610202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.18 | GFER | Achchuthan Shanmugasundram Phenotypes for gene: GFER were changed from MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD 613076 to GFER-related mitochondrial progressive myopathy with congenital cataract, hearing loss and developmental delay, OMIM:613076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.16 | GFER | Achchuthan Shanmugasundram edited their review of gene: GFER: Changed phenotypes to: GFER-related mitochondrial progressive myopathy with congenital cataract, hearing loss and developmental delay, OMIM:613076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.14 | CRYGD | Achchuthan Shanmugasundram Phenotypes for gene: CRYGD were changed from Cataract 2, multiple types, OMIM:115700 to CRYGD-related cataract, OMIM:115700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.12 | CRYGD | Achchuthan Shanmugasundram edited their review of gene: CRYGD: Changed phenotypes to: CRYGD-related cataract, OMIM:115700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.11 | CRYBB2 | Achchuthan Shanmugasundram Phenotypes for gene: CRYBB2 were changed from CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547; CATARACT, COPPOCK-LIKE 604307 to CRYBB2-related cataract, OMIM:601547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.10 | CRYBB2 | Achchuthan Shanmugasundram edited their review of gene: CRYBB2: Changed phenotypes to: CRYBB2-related cataract, OMIM:601547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.9 | CRYAB | Achchuthan Shanmugasundram Phenotypes for gene: CRYAB were changed from MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869; CATARACT POSTERIOR POLAR TYPE 2 613763 to CRYAB-related alpha-related B crystallinopathy; CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.8 | CRYAB | Achchuthan Shanmugasundram edited their review of gene: CRYAB: Changed phenotypes to: CRYAB-related alpha-related B crystallinopathy, CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.8 | CRELD1 | Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from HETEROTAXY SYNDROME 207574 to CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771; CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.6 | CRELD1 | Achchuthan Shanmugasundram edited their review of gene: CRELD1: Changed phenotypes to: CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771, CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.6 | ATOH7 | Achchuthan Shanmugasundram Phenotypes for gene: ATOH7 were changed from RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900 to ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.5 | ATOH7 | Achchuthan Shanmugasundram edited their review of gene: ATOH7: Changed phenotypes to: ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | KCNK4 | Achchuthan Shanmugasundram edited their review of gene: KCNK4: Added comment: The DDG2P confidence category for the disease KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 30290154).; Changed rating: RED; Changed phenotypes to: FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth), Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth, KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | ZNF699 | Achchuthan Shanmugasundram reviewed gene: ZNF699: Rating: GREEN; Mode of pathogenicity: ; Publications: 39424669, 36801247, 33875846, 34374989, 35205213; Phenotypes: ZNF699-related developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS syndrome), OMIM:619488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | ZMYND8 | Achchuthan Shanmugasundram commented on gene: ZMYND8: The DDG2P confidence category for the disease ZMYND8-related neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 35916866). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | ZFX | Achchuthan Shanmugasundram reviewed gene: ZFX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38325380; Phenotypes: ZFX-related neurodevelopmental disorder with hypotonia, congenital anomalies and facial dysmorphism with or without hyperparathyroidism; 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 v5.3 | XYLT1 | Achchuthan Shanmugasundram edited their review of gene: XYLT1: Added comment: The DDG2P confidence category for the disease XYLT1-related Desbuquois dysplasia, OMIM:615777 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;cis-regulatory or promotor mutation (PMID: 35081921;24581741;23982343;30554721).; Changed publications to: 35081921, 23982343, 24581741, 30554721; Changed phenotypes to: DESBUQUOIS DYSPLASIA 2, OMIM:615777, XYLT1-related Desbuquois dysplasia, OMIM:615777, Baratela Scott Syndrome, OMIM:615777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | WRAP53 | Achchuthan Shanmugasundram edited their review of gene: WRAP53: Added comment: The DDG2P confidence category for the disease WRAP53-related dyskeratosis congenita, OMIM:613988 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 29514627;34599657;32303682;21205863).; Changed publications to: 34599657, 29514627, 21205863, 32303682; Changed phenotypes to: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, OMIM:613988, WRAP53-related dyskeratosis congenita, OMIM:613988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | USP14 | Achchuthan Shanmugasundram edited their review of gene: USP14: Added comment: The DDG2P confidence category for the disease USP14-related syndromic neurodevelopmental disorder with arthrogryposis is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 38469793;35066879).; Changed rating: GREEN; Changed publications to: 38469793, 35066879; Changed phenotypes to: DISTAL ARTHROGRYPOSIS, USP14-related syndromic neurodevelopmental disorder with arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | UBA2 | Achchuthan Shanmugasundram reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32758660, 28110515, 34159400, 31587267, 39149811, 31332306, 37221169, 34040189; Phenotypes: UBA2-related congenital anomalies with or without aplasia cutis congenita and ectrodactyly and variable developmental delay, OMIM:619959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | SMARCA2 | Achchuthan Shanmugasundram edited their review of gene: SMARCA2: Added comment: The DDG2P confidence category for the disease SMARCA2-related Nicolaides-Baraitser syndrome , OMIM:601358 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 31813144;34521483;34296532;31288860;25169058;27665729;22366787;22426308;32694869;35811451;32657847;22822383;28948053).; Changed publications to: 28948053, 32657847, 31813144, 25169058, 22426308, 34521483, 22366787, 34296532, 32694869, 31288860, 27665729, 22822383, 35811451; Changed phenotypes to: NICOLAIDES-BARAITSER SYNDROME, OMIM:601358, SMARCA2-related Nicolaides-Baraitser syndrome , OMIM:601358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | SLC4A10 | Achchuthan Shanmugasundram reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 38054405, 37459438, 31130284; Phenotypes: SLC4A10-related neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | PIK3CA | Achchuthan Shanmugasundram edited their review of gene: PIK3CA: Added comment: The DDG2P confidence category for the disease PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 22658544;22729224).; Changed phenotypes to: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918, HEMIMEGALENCEPHALY PIK3CA, PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | PIGN | Achchuthan Shanmugasundram edited their review of gene: PIGN: Added comment: The DDG2P confidence category for the disease PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 26364997;35468813;34051595;32585529;33193741;27300081;27038415;24852103;33966742;21493957;29096607;26419326;26394714;29330547;24253414;36363484;35812661;36322149).; Changed publications to: 33966742, 26364997, 29330547, 35468813, 34051595, 29096607, 26419326, 36322149, 24852103, 35812661, 27038415, 36363484, 26394714, 27300081, 21493957, 33193741, 24253414, 32585529; Changed phenotypes to: PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME, OMIM:614080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | PCGF2 | Achchuthan Shanmugasundram edited their review of gene: PCGF2: Added comment: The DDG2P confidence category for the disease PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 30526864;34750959;36105049;30343942).; Changed publications to: 36105049, 34750959, 30343942, 30526864; Changed phenotypes to: Craniofacial Neurological Cardiovascular and Skeletal Features, INTELLECTUAL DISABILITY, PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | OPHN1 | Achchuthan Shanmugasundram edited their review of gene: OPHN1: Added comment: The DDG2P confidence category for the disease OPHN1-related intellectual developmental disorder , OMIM:300486 is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 30534410;29510240;24105372;20528889;12805098;12807966;32872024;33638601;9582072;18261018;29960046;27390894;16158428).; Changed publications to: 12805098, 20528889, 12807966, 30534410, 24105372, 29510240, 33638601, 9582072, 16158428, 32872024, 18261018, 29960046, 27390894; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED OPHN1-RELATED, OMIM:300486, OPHN1-related intellectual developmental disorder , OMIM:300486; 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 v5.3 | NUP107 | Achchuthan Shanmugasundram edited their review of gene: NUP107: Added comment: The DDG2P confidence category for the disease NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 30179222;28280135;26411495).; Changed rating: GREEN; Changed publications to: 28280135, 26411495, 30179222; Changed phenotypes to: NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348, GALLOWAY-MOWAT SYNDROME 7, OMIM:618348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | NOP10 | Achchuthan Shanmugasundram edited their review of gene: NOP10: Added comment: The DDG2P confidence category for the disease NOP10-related dyskeratosis congenita, OMIM:224230 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 17507419).; Changed rating: GREEN; Changed phenotypes to: NOP10-related dyskeratosis congenita, OMIM:224230, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, OMIM:224230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | NHP2 | Achchuthan Shanmugasundram edited their review of gene: NHP2: Added comment: The DDG2P confidence category for the disease NHP2-related dyskeratosis congenita, OMIM:613987 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 37440454;30472699;18523010;31985013).; Changed publications to: 37440454, 31985013, 30472699, 18523010; Changed phenotypes to: NHP2-related dyskeratosis congenita, OMIM:613987, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, OMIM:613987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | NECTIN1 | Achchuthan Shanmugasundram edited their review of gene: NECTIN1: Added comment: The DDG2P confidence category for the disease NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 10932188).; Changed rating: GREEN; Changed phenotypes to: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OMIM:225060, NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | MYH9 | Achchuthan Shanmugasundram edited their review of gene: MYH9: Added comment: The DDG2P confidence category for the disease MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 25077172;10973259).; Changed phenotypes to: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | MAF | Achchuthan Shanmugasundram edited their review of gene: MAF: Added comment: The DDG2P confidence category for the disease MAF-related cataract, OMIM:610202 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 29314435;30659945;11772997;24664492;16470690). The DDG2P confidence category for the disease MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 25865493).; Changed publications to: 29314435, 24664492, 11772997, 16470690, 25865493, 30659945; Changed phenotypes to: MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088, CATARACT 21, MULTIPLE TYPES, OMIM:610202, MAF-related cataract, OMIM:610202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | LFNG | Achchuthan Shanmugasundram commented on gene: LFNG: The DDG2P confidence category for the disease SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 16385447). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | LAMP2 | Achchuthan Shanmugasundram edited their review of gene: LAMP2: Added comment: The DDG2P confidence category for the disease LAMP2-related Danon disease is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure;decreased gene product level (PMID: 19057086;3087571;8504498;15253947;30681346;19588270;20173215;10972294;15673802;12112061;15907287;30857840;16217705).; Changed publications to: 8504498, 12112061, 15673802, 15253947, 30857840, 16217705, 20173215, 15907287, 19588270, 30681346, 3087571, 19057086, 10972294; Changed phenotypes to: DANON DISEASE, OMIM:300257, LAMP2-related Danon disease; 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 v5.3 | H3F3A | Achchuthan Shanmugasundram edited their review of gene: H3F3A: Added comment: The DDG2P confidence category for the disease H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33057194;31942419;33268356).; Changed publications to: 33057194, 31942419, 33268356; Changed phenotypes to: Craniofacial with neurodevelopment disorders, H3F3A associated neurodevelopmental disorder, H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | GNAI1 | Achchuthan Shanmugasundram edited their review of gene: GNAI1: Added comment: The DDG2P confidence category for the disease GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34819662;33473207).; Changed mode of pathogenicity: Other; Changed publications to: 34819662, 33473207; Changed phenotypes to: GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854, GNAI1 syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | GFER | Achchuthan Shanmugasundram edited their review of gene: GFER: Added comment: The DDG2P confidence category for the disease GFER-related mitochondrial progressive myopathy with congenital cataract, hearing loss and developmental delay, OMIM:613076 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 19409522;26018198;28155230).; Changed rating: GREEN; Changed publications to: 19409522, 26018198, 28155230; Changed phenotypes to: MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD, OMIM:613076, GFER-related mitochondrial progressive myopathy with congenital cataract, hearing loss and developmental delay, OMIM:613076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | EXOSC8 | Achchuthan Shanmugasundram reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 38017281, 24989451, 34210538; Phenotypes: EXOSC8-related pontocerebellar hypoplasia, OMIM:616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | DLL1 | Achchuthan Shanmugasundram edited their review of gene: DLL1: Added comment: The DDG2P confidence category for the disease DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 36590296;31353024;37204857).; Changed rating: GREEN; Changed publications to: 37204857, 36590296, 31353024; Changed phenotypes to: DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709, INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | CRYGD | Achchuthan Shanmugasundram edited their review of gene: CRYGD: Added comment: The DDG2P confidence category for the disease CRYGD-related cataract, OMIM:115700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 12676897;12011157;17564961;18079686;10915766;10521291;9927684;20508808).; Changed rating: GREEN; Changed publications to: 18079686, 17564961, 10521291, 9927684, 12676897, 12011157, 20508808, 10915766; Changed phenotypes to: Cataract 2, multiple types, OMIM:115700, CRYGD-related cataract, OMIM:115700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | CRYBB2 | Achchuthan Shanmugasundram edited their review of gene: CRYBB2: Added comment: The DDG2P confidence category for the disease CRYBB2-related cataract, OMIM:601547 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 21245961;8812489;24312286;9158139;11424921;18449377;16179907;10634616;27385965).; Changed publications to: 27385965, 24312286, 8812489, 10634616, 9158139, 21245961, 18449377, 11424921, 16179907; Changed phenotypes to: CATARACT, COPPOCK-LIKE, OMIM:604307, CATARACT, CONGENITAL, CERULEAN TYPE, 2, OMIM:601547, CRYBB2-related cataract, OMIM:601547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | CRYAB | Achchuthan Shanmugasundram edited their review of gene: CRYAB: Added comment: The DDG2P confidence category for the disease CRYAB-related alpha-related B crystallinopathy is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 14681890;21130652;21337604;570292;28493373;9731540;23590293;19597569;30681346;16877416;16505043;38212463;32420686;11577372;21920752). The DDG2P confidence category for the disease CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 21337604).; Changed rating: GREEN; Changed publications to: 570292, 9731540, 11577372, 21130652, 38212463, 19597569, 16877416, 14681890, 30681346, 21920752, 16505043, 21337604, 28493373, 23590293, 32420686; Changed phenotypes to: CRYAB-related alpha-related B crystallinopathy, CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED, OMIM:613869, CATARACT POSTERIOR POLAR TYPE 2, OMIM:613763; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | CRELD1 | Achchuthan Shanmugasundram edited their review of gene: CRELD1: Added comment: The DDG2P confidence category for the disease CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 37947183). The DDG2P confidence category for the disease CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 12632326;22740159;21080147).; Changed publications to: 37947183, 21080147, 22740159, 12632326; Changed phenotypes to: CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771, HETEROTAXY SYNDROME, OMIM:207574, CRELD1-related neurodevelopmental disorder with hypotonia and seizures, CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | ATOH7 | Achchuthan Shanmugasundram edited their review of gene: ATOH7: Added comment: The DDG2P confidence category for the disease ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;cis-regulatory or promotor mutation (PMID: 28192794;22068589;22645276;21441919;26933893).; Changed rating: GREEN; Changed publications to: 28192794, 22645276, 22068589, 26933893, 21441919; Changed phenotypes to: ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900, RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC, OMIM:221900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | AFF3 | Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The DDG2P confidence category for the disease AFF3-related intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38811945). The DDG2P confidence category for the disease AFF3-related KINSSHIP syndrome, OMIM:619297 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33961779;36576140;38811945).; Changed publications to: 38811945, 33961779, 36576140; Changed phenotypes to: Skeletal dysplasia with severe neurological disease, AFF3-related KINSSHIP syndrome, OMIM:619297, AFF3-related intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | ZNF699 |
Achchuthan Shanmugasundram gene: ZNF699 was added gene: ZNF699 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF699 were set to 34374989; 39424669; 35205213; 33875846; 36801247 Phenotypes for gene: ZNF699 were set to ZNF699-related developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS syndrome), OMIM:619488 |
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| DDG2P v5.2 | ZFX |
Achchuthan Shanmugasundram gene: ZFX was added gene: ZFX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZFX were set to 38325380 Phenotypes for gene: ZFX were set to ZFX-related neurodevelopmental disorder with hypotonia, congenital anomalies and facial dysmorphism with or without hyperparathyroidism |
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| DDG2P v5.2 | UBA2 |
Achchuthan Shanmugasundram gene: UBA2 was added gene: UBA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBA2 were set to 31587267; 28110515; 34040189; 37221169; 32758660; 31332306; 34159400; 39149811 Phenotypes for gene: UBA2 were set to UBA2-related congenital anomalies with or without aplasia cutis congenita and ectrodactyly and variable developmental delay, OMIM:619959 |
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| DDG2P v5.2 | SLC4A10 |
Achchuthan Shanmugasundram gene: SLC4A10 was added gene: SLC4A10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A10 were set to 31130284; 37459438; 38054405 Phenotypes for gene: SLC4A10 were set to SLC4A10-related neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 |
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| DDG2P v5.2 | EXOSC8 |
Achchuthan Shanmugasundram gene: EXOSC8 was added gene: EXOSC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC8 were set to 24989451; 34210538; 38017281 Phenotypes for gene: EXOSC8 were set to EXOSC8-related pontocerebellar hypoplasia, OMIM:616081 |
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| DDG2P v4.14 | TMEM94 | Arina Puzriakova Phenotypes for gene: TMEM94 were changed from Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.13 | SART3 | Arina Puzriakova Tag gene-checked tag was added to gene: SART3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.13 | RNU4-2 | Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.11 | DAW1 | Arina Puzriakova Phenotypes for gene: DAW1 were changed from DAW1-associated ciliopathy to Ciliary dyskinesia, primary, 52, OMIM:620570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | EDAR | Achchuthan Shanmugasundram edited their review of gene: EDAR: Added comment: The DDG2P mutation consequence for EDAR-related hypohidrotic ectodermal dysplasia, OMIM:129490 has been updated to absent gene product,altered gene product structure.; Changed publications to: 33943035, 28357203, 20033817, 18231121, 16435307, 16029325, 20979233, 19551394, 18816645, 26336973, 32819890, 21771270, 33205897, 17501952, 23210707, 32325225, 20199431, 32906216, 24641098, 10431241, 24764207, 24884697, 27168349, 15373768, 21876339, 31310406; Changed phenotypes to: EDAR-related hypohidrotic ectodermal dysplasia, OMIM:129490, EDAR-related hypohidrotic ectodermal dysplasia, OMIM:224900, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | ASAH1 | Achchuthan Shanmugasundram edited their review of gene: ASAH1: Added comment: The DDG2P mutation consequence for ASAH1-related Farber lipogranulomatosis has been updated to absent gene product,altered gene product structure.; Changed publications to: 16951918, 32875576, 22703880, 10610716, 11241842, 8955159; Changed phenotypes to: SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY, OMIM:159950, FARBER LIPOGRANULOMATOSIS, OMIM:228000, ASAH1-related Farber lipogranulomatosis, OMIM:228000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | LSM11 | Achchuthan Shanmugasundram reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: Other; Publications: 33230297; Phenotypes: LSM11-related Aicardi-Goutieres syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CCDC78 | Achchuthan Shanmugasundram edited their review of gene: CCDC78: Added comment: The DDG2P confidence category for the disease CCDC78-related congenital myopathy, OMIM:614807 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22818856;25635128).; Changed rating: RED; Changed publications to: 22818856, 25635128; Changed phenotypes to: CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES, OMIM:614807, CCDC78-related congenital myopathy, OMIM:614807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | ZFHX3 | Achchuthan Shanmugasundram edited their review of gene: ZFHX3: Added comment: The DDG2P confidence category for the disease ZFHX3-related neurodevelopmental disorder, OMIM:104155 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38412861;30809043).; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications to: 30809043, 38412861, 32502225; Changed phenotypes to: ZFHX3-related neurodevelopmental disorder, OMIM:104155, ZFHX3-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | ZBTB11 | Achchuthan Shanmugasundram reviewed gene: ZBTB11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31130284, 35104841, 36068688, 29893856, 38899514; Phenotypes: ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | U2AF2 | Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The DDG2P confidence category for the disease U2AF2-related neurodevelopmental disorder is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34112922;37962958;36747105;33644862;33057194).; Changed publications to: 36747105, 33057194, 37962958, 33644862, 34112922; Changed phenotypes to: U2AF2-related developmental disorder (monoallelic), U2AF2-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | TUBA1A | Achchuthan Shanmugasundram edited their review of gene: TUBA1A: Added comment: The DDG2P confidence category for the disease TUBA1A-associated tubulinopathy, OMIM:611603 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33649541;35686685;17218254;18954413;18728072;30744660;30016746;17584854;21403111).; Changed mode of pathogenicity: Other; Changed publications to: 30744660, 17218254, 30016746, 18954413, 21403111, 33649541, 18728072, 17584854, 35686685; Changed phenotypes to: TUBA1A-associated tubulinopathy, OMIM:611603, INTELLECTUAL DISABILITY, OMIM:616579, LISSENCEPHALY TYPE 3, OMIM:611603 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | TSPEAR | Achchuthan Shanmugasundram reviewed gene: TSPEAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 34042254, 27736875, 37009414; Phenotypes: TSPEAR-related ectodermal dysplasia and tooth agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | TOR1A | Achchuthan Shanmugasundram reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30244176, 33175450, 33832800, 28516161, 36757831; Phenotypes: TOR1A-associated arthrogryposis multiplex congenita (AR); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | TFE3 | Achchuthan Shanmugasundram edited their review of gene: TFE3: Added comment: The DDG2P confidence category for the disease TFE3-related intellectual disability with pigmentary mosaicism and coarse features is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and altered gene product structure (PMID: 33057194;31833172;32409512;30595499).; Changed publications to: 31833172, 32409512, 30595499, 33057194; Changed phenotypes to: TFE3-related intellectual disability with pigmentary mosaicism, TFE3-related intellectual disability with pigmentary mosaicism and coarse features, Intellectual disability with pigmentary mosaicism and storage disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | TERT | Achchuthan Shanmugasundram edited their review of gene: TERT: Added comment: The DDG2P confidence category for the disease Dyskeratosis Congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 16247010;30523342;25067791;35927969). The DDG2P confidence category for the disease TERT-related Dyskeratosis congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 35477117;34890115;26546739;17785587).; Changed publications to: 30523342, 26546739, 35477117, 34890115, 16247010, 25067791, 17785587, 35927969; Changed phenotypes to: Dyskeratosis Congenita, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, TERT-related Dyskeratosis congenita, OMIM:613989; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | TDRD7 | Achchuthan Shanmugasundram edited their review of gene: TDRD7: Added comment: The DDG2P confidence category for the disease TDRD7-related cataract with or without azoospermia, OMIM:613887 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;uncertain (PMID: 21436445;28418495;31048812).; Changed rating: GREEN; Changed publications to: 31048812, 21436445, 28418495; Changed phenotypes to: TDRD7-related cataract with or without azoospermia, OMIM:613887, CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | TDP2 | Achchuthan Shanmugasundram reviewed gene: TDP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34606976, 31410782, 32651480, 30109272, 24658003; Phenotypes: TDP2-related spinocerebellar ataxia with seizures and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | SNAPC4 | Achchuthan Shanmugasundram reviewed gene: SNAPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22222761, 36965478; Phenotypes: SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, OMIM:620515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | SCAPER | Achchuthan Shanmugasundram edited their review of gene: SCAPER: Added comment: The DDG2P confidence category for the disease SCAPER-related neurodevelopmental disorder and retinitis pigmentosa is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 28041643;28794130;31069901;21937992;31192531;30561111;30723319;37160720;29302074).; Changed rating: GREEN; Changed publications to: 37160720, 28794130, 29302074, 31069901, 28041643, 30561111, 30723319, 21937992, 31192531; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, SCAPER-related neurodevelopmental disorder and retinitis pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | SART3 | Achchuthan Shanmugasundram reviewed gene: SART3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37296101; Phenotypes: SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | RTEL1 | Achchuthan Shanmugasundram edited their review of gene: RTEL1: Added comment: The DDG2P confidence category for the disease RTEL1-related dyskeratosis congenita is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 23329068;23453664). The DDG2P confidence category for the disease RTEL1-related dyskeratosis congenita is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 23329068;23453664).; Changed publications to: 23329068, 23453664; Changed phenotypes to: RTEL1-related dyskeratosis congenita, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | RRAGC | Achchuthan Shanmugasundram reviewed gene: RRAGC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37057673, 27234373; Phenotypes: RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | RPS6KA3 | Achchuthan Shanmugasundram edited their review of gene: RPS6KA3: Added comment: The DDG2P confidence category for the disease RPS6KA3-related Coffin-Lowry syndrome, OMIM:303600 is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure (PMID: 14986828;10094187;9837815;32858545;26297997;8955270;35888677;11180593;15214012;16879200; 11992250;35038833;23261961;36125370;16691578;31400131;12558110;29678278;9887375;10319851;17717706;26043507;21614984;25044551; 12439904;10528858;17100996).; Changed publications to: 9887375, 17717706, 11180593, 31400131, 15214012, 26297997, 32858545, 14986828, 35038833, 12439904, 26043507, 23261961, 29678278, 35888677, 17100996, 11992250, 16879200, 10094187, 16691578, 9837815, 12558110, 10319851, 36125370, 21614984, 10528858, 25044551, 8955270; Changed phenotypes to: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR, RPS6KA3-related Coffin-Lowry syndrome, OMIM:303600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | RPL26 | Achchuthan Shanmugasundram commented on gene: RPL26: The DDG2P confidence category for the disease DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22431104). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | RABGAP1 | Achchuthan Shanmugasundram reviewed gene: RABGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36083289; Phenotypes: RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | PRRX1 | Achchuthan Shanmugasundram edited their review of gene: PRRX1: Added comment: The DDG2P confidence category for the disease PRRX1-related craniosynostosis is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure;decreased gene product level and incomplete penetrance(PMID: 37154149). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX monoallelic is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 22211708;22674740;21294718;23444262;37154149). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX biallelic is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 22211708;23444262).; Changed rating: GREEN; Changed publications to: 37154149, 22674740, 22211708, 23444262, 21294718; Changed phenotypes to: AGNATHIA-OTOCEPHALY COMPLEX biallelic, AGNATHIA-OTOCEPHALY COMPLEX monoallelic, PRRX1-related craniosynostosis; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | POMGNT2 | Achchuthan Shanmugasundram commented on gene: POMGNT2: The DDG2P confidence category for the disease WALKER WARBERG SYNDROME, OMIM:614830 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 22958903). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | POLA1 | Achchuthan Shanmugasundram edited their review of gene: POLA1: Added comment: The DDG2P confidence category for the disease POLA1-related pigmentary disorder, reticulate, with systemic manifestations is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMID: 27019277). The DDG2P confidence category for the disease VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMID: 31006512).; Changed publications to: 27019277, 31006512; Changed phenotypes to: VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030, POLA1-related pigmentary disorder, reticulate, with systemic manifestations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | PIP5K1C | Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The DDG2P confidence category for the disease PIP5K1C-associated neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37451268). The DDG2P confidence category for the disease LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure.; Changed rating: GREEN; Changed publications to: 37451268; Changed phenotypes to: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369, PIP5K1C-associated neurodevelopmental disorder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | PEX14 | Achchuthan Shanmugasundram edited their review of gene: PEX14: Added comment: The DDG2P confidence category for the disease PEX14-related autosomal dominant Zellweger spectrum disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37493040). The DDG2P confidence category for the disease PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; Changed publications to: 37493040; Changed phenotypes to: PEX14-related autosomal dominant Zellweger spectrum disorder, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | PAX1 | Achchuthan Shanmugasundram edited their review of gene: PAX1: Added comment: The DDG2P confidence category for the disease OTOFACIOCERVICAL SYNDROME, OMIM:166780 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 28657137;23851939;29681087). The DDG2P confidence category for the disease PAX1-related oculo-auriculo-vertebral syndrome is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.; Changed publications to: 28657137, 29681087, 23851939; Changed phenotypes to: OTOFACIOCERVICAL SYNDROME, OMIM:166780, PAX1-related oculo-auriculo-vertebral syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | NLGN4X | Achchuthan Shanmugasundram edited their review of gene: NLGN4X: Added comment: The DDG2P confidence category for the disease NLGN4X-related autism and intellectual disability, OMIM:300495 is strong. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 33369065;12669065;16648374;28263302;14963808;26350204;23352163;32243781).; Changed rating: GREEN; Changed publications to: 32243781, 33369065, 28263302, 14963808, 23352163, 16648374, 12669065, 26350204; Changed phenotypes to: SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495, NLGN4X-related autism and intellectual disability, OMIM:300495; 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 v4.10 | NDST1 | Achchuthan Shanmugasundram edited their review of gene: NDST1: Added comment: The DDG2P confidence category for the disease NDST1-related intellectual disability with or without seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 38129107;27620904;31164858;21937992;28600779;32878022;25125150;28211985).; Changed rating: GREEN; Changed publications to: 27620904, 31164858, 38129107, 28211985, 28600779, 32878022, 21937992, 25125150; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, NDST1-related intellectual disability with or without seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | NALCN | Achchuthan Shanmugasundram edited their review of gene: NALCN: Added comment: The DDG2P confidence category for the disease CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 25683120). The DDG2P confidence category for the disease NALCN-related temporal lobe epilepsy is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37046053). The DDG2P confidence category for the disease HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 23749988;24075186).; Changed publications to: 25683120, 23749988, 37046053, 24075186; Changed phenotypes to: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266, NALCN-related temporal lobe epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | MYH8 | Achchuthan Shanmugasundram edited their review of gene: MYH8: Added comment: The DDG2P confidence category for the disease MYH8-related Trismus-pseudocamptodactyly syndrome is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product;altered gene product structure and potential IF (PMID: 18049072;17041932;20949528).; Changed rating: GREEN; Changed publications to: 18049072, 15282353, 28377322, 17041932, 20949528; Changed phenotypes to: CARNEY COMPLEX VARIANT, OMIM:608837, DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, MYH8-related Trismus-pseudocamptodactyly syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | MYH10 | Achchuthan Shanmugasundram edited their review of gene: MYH10: Added comment: The DDG2P confidence category for the disease MYH10-related Multiple congenital anomalies is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 35980381;25356899;25003005).; Changed rating: GREEN; Changed publications to: 25356899, 35980381, 25003005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | LRP5 | Achchuthan Shanmugasundram edited their review of gene: LRP5: Added comment: The DDG2P confidence category for the disease LRP5 - OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME on a spectrum with FEVR with osteopenia, OMIM:259770 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 11719191;15346351;17437160;16929062;18825883;17353424;16679074;20034086). The DDG2P confidence category for the disease LRP5-related osteopetrosis, OMIM:601884 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 14727154;12579474;11741193). The DDG2P confidence category for the disease LRP5-related exudative vitreoretinopathy, OMIM:601813 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 9831343;15981244;15346351;9056564;15024691).; Changed publications to: 17437160, 11719191, 14727154, 9831343, 18825883, 16679074, 17353424, 12579474, 15981244, 20034086, 16929062, 11741193, 15346351, 9056564, 15024691; Changed phenotypes to: LRP5-related exudative vitreoretinopathy, OMIM:601813, LRP5 - OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME on a spectrum with FEVR with osteopenia, OMIM:259770, HIGH BONE MASS TRAIT, OMIM:601884, ENDOSTEAL HYPEROSTOSIS WORTH TYPE, OMIM:144750, LRP5-related osteopetrosis, OMIM:601884, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OMIM:259770, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, OMIM:607634, VITREORETINOPATHY EXUDATIVE TYPE 4, OMIM:601813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | LMOD2 | Achchuthan Shanmugasundram reviewed gene: LMOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35188328, 34888509, 35082396, 31517052, 37296576; Phenotypes: LMOD2-related infantile dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | KLHL7 | Achchuthan Shanmugasundram edited their review of gene: KLHL7: Added comment: The DDG2P confidence category for the disease KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;uncertain (PMID: 38333279;30300710;27392078;30142437;35699517;29074562;37076692;35670385;30997404;31953236).; Changed publications to: 35670385, 30997404, 31953236, 35699517, 30142437, 30300710, 37076692, 29074562, 38333279, 27392078; Changed phenotypes to: KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures), 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | KCTD7 | Achchuthan Shanmugasundram edited their review of gene: KCTD7: Added comment: The DDG2P confidence category for the disease KCTD7-related progressive myoclonic epilepsy, OMIM:611726 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 22693283;17455289;32412666;38231304;35921411;30295347;22748208;30500434).; Changed publications to: 30295347, 30500434, 17455289, 22748208, 35921411, 32412666, 38231304, 22693283; Changed phenotypes to: NEURONAL CEROID LIPOFUSCINOSIS, KCTD7-related progressive myoclonic epilepsy, OMIM:611726, PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3, OMIM:611726 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | KCNK3 | Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The DDG2P confidence category for the disease KCNK3-associated developmental delay with sleep apnea is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36195757;33057194).; Changed publications to: 36195757, 33057194; Changed phenotypes to: KCNK3-related developmental disorder (monoallelic), KCNK3-associated developmental delay with sleep apnea | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | INTS11 | Achchuthan Shanmugasundram reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37054711, 37980560; Phenotypes: INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | INTS1 | Achchuthan Shanmugasundram reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28542170, 30622326, 31428919; Phenotypes: INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | HMGCR | Achchuthan Shanmugasundram reviewed gene: HMGCR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37167966, 36745799; Phenotypes: HMGCR-related limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | HCCS | Achchuthan Shanmugasundram edited their review of gene: HCCS: Added comment: The DDG2P confidence category for the disease HCCS-related linear skin defects with microphthalmia, OMIM:309801 is moderate. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 17893649;24735900;17033964).; Changed publications to: 17893649, 24735900, 17033964; Changed phenotypes to: HCCS-related linear skin defects with microphthalmia, OMIM:309801, MICROPHTHALMIA SYNDROMIC TYPE 7, OMIM:309801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | GJA1 | Achchuthan Shanmugasundram edited their review of gene: GJA1: Added comment: 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 HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 14974090;14981729). The DDG2P confidence category for the disease GJA1-related oculodentodigital dysplasia, OMIM:164200 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 15512999;16816024;14974090;20597923;12457340;36396593;23606748;29902798). The DDG2P confidence category for the disease GJA1-related oculodentodigital dysplasia, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 18425059;7815444;17256797;19338053;12457340;2309863;30204976;28319210;19808103;31347275; 27241686;24434540;16378922;28258662;2157843;15637728;25327171;19847613;28491627;22214631;4209752;16219735;18412120; 34035645;30610049;25976645;16222672;18161618;15551259;21670345;23550541;19638688;30628995;24508941;18946008; 26087145;15108203;29653008;26444782;14729836;16709485).; Changed publications to: 18412120, 26444782, 17256797, 31347275, 19638688, 23606748, 2309863, 29902798, 16378922, 11470490, 30204976, 26087145, 25327171, 15512999, 25976645, 18946008, 20597923, 30610049, 36396593, 4209752, 14729836, 19338053, 34035645, 22214631, 19808103, 14981729, 18161618, 16219735, 28491627, 16816024, 24434540, 2157843, 23550541, 28319210, 24508941, 16222672, 12457340, 7815444, 15108203, 18425059, 28258662, 29653008, 27241686, 21670345, 14974090, 30628995, 16709485, 15637728, 15551259, 19847613; Changed phenotypes to: HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550, HALLERMANN-STREIFF SYNDROME, OMIM:234100, SYNDACTYLY TYPE 3, OMIM:186100, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200, GJA1-related oculodentodigital dysplasia, OMIM:164200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | FOXP4 | Achchuthan Shanmugasundram edited their review of gene: FOXP4: Added comment: The DDG2P confidence category for the disease FOXP4-related Developmental Disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36301021;33110267).; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications to: 33110267, 36301021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | FILIP1 | Achchuthan Shanmugasundram reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36943452; Phenotypes: FILIP1-related arthrogryposis multiplex congenita with microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | FGFR2 | Achchuthan Shanmugasundram edited their review of gene: FGFR2: Added comment: The DDG2P confidence category for the disease ANTLEY-BIXLER SYNDROME, OMIM:207410 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9605588). The DDG2P confidence category for the disease FGFR2-related Pfeiffer syndrome, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 10945669;9475591;11556600;11380927;10731087;7719333;10394936;9457499;11807866;9150725). The DDG2P confidence category for the disease CROUZON SYNDROME, OMIM:123500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 7581378;7987400;9152842;15523492;7874170;8956050;22038757;7607643;7655462;9677057;7773284;10574673;7558045;8528214;17621648). The DDG2P confidence category for the disease APERT SYNDROME, OMIM:101200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 7719344;8651276;9452027;9002682;9217234;7668257;9973282). The DDG2P confidence category for the disease JACKSON-WEISS SYNDROME, OMIM:123150 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9385368;7874170). The DDG2P confidence category for the disease BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9545103;12000365;8696350;19610084). The DDG2P confidence category for the disease FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure;uncertain.; Changed publications to: 17621648, 12000365, 10394936, 11807866, 9475591, 19610084, 8528214, 9385368, 10574673, 9150725, 10731087, 22038757, 15523492, 9457499, 7668257, 8956050, 7607643, 9002682, 7874170, 8696350, 7558045, 9217234, 8651276, 9605588, 7581378, 9973282, 9452027, 9677057, 7719344, 7719333, 7655462, 9152842, 7987400, 10945669, 9545103, 11380927, 11556600, 7773284; Changed phenotypes to: FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730, FGFR2-related Pfeiffer syndrome, OMIM:101600, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ANTLEY-BIXLER SYNDROME, OMIM:207410, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, CROUZON SYNDROME, OMIM:123500, JACKSON-WEISS SYNDROME, OMIM:123150, APERT SYNDROME, OMIM:101200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | FBN1 | Achchuthan Shanmugasundram edited their review of gene: FBN1: Added comment: The DDG2P confidence category for the disease FBN1-related Marfan syndrome, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 12161601;11391655;11710961;18412115;15287423;15032979;17679947;8430317; 8004112;7945217;11175294;12402346;17663468;17189636;15054843;10090884;10766875;23103230;23023332;14695540;17366579; 12413333;11524736;10694921;11453977;1569206;8863159;12446365;8136837;17657824;7633409;16930007;7911051;20979188;8281141; 17701892;14586646;8882780;8428751;10756346;37684520;1631074;8504310;7611299;10364683;7762551;21594993;1301946;7915876;8040326; 8071963;8101042;16617303;10189089;12890380;11700157;16220557;9101298;8406497;10441700;12203992;10425041;7870075;17492313; 21594992;17568394;12915484;11702223;9837823;35058154;15241795;16222657;9241263;20082464;7622614;10721679;10441597; 15161620;11139245;16333834;9452085;1852208). The DDG2P confidence category for the disease FBN1-related Weill-Marchesani syndrome, OMIM:608328 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 12525539;22242013;25142510;28696036;23897642;8406497;37734846;34075901). The DDG2P confidence category for the disease FBN1-related Marfan syndrome, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 8428751;1631074;8504310;7611299;21594993;7762551;24698609;18412115;15287423;15032979;1301946;31950671;8040326;8430317; 8101042;28636274;27582083;9101298;8406497;20886638;11175294;7977366;10766875;17492313;21594992;17568394;17366579; 11702223;19059503;33436942;9837823;23278365;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188; 8281141;8880577;16333834;1852208).; Changed publications to: 10189089, 17568394, 10441700, 8882780, 17679947, 8101042, 7911051, 8430317, 23897642, 18412115, 20979188, 11710961, 8071963, 15161620, 24698609, 28696036, 12203992, 10756346, 16617303, 27582083, 7611299, 37684520, 16222657, 16220557, 37734846, 34075901, 25142510, 15032979, 20082464, 14586646, 22242013, 15287423, 17657824, 17701892, 10090884, 11453977, 31950671, 19059503, 10721679, 9101298, 12890380, 11700157, 10441597, 7945217, 20886638, 7633409, 17492313, 12413333, 11702223, 12446365, 1301946, 1569206, 17366579, 7622614, 8281141, 10694921, 35058154, 7870075, 33436942, 8040326, 11139245, 21594992, 12525539, 11524736, 23278365, 17189636, 12161601, 8880577, 8406497, 23103230, 11175294, 10766875, 16930007, 21594993, 11391655, 8136837, 23023332, 12915484, 7915876, 15241795, 7977366, 8428751, 7762551, 15054843, 1631074, 8863159, 8504310, 14695540, 10364683, 17663468, 28636274, 10425041, 8004112, 9241263, 12402346, 9452085, 1852208, 16333834, 9837823; Changed phenotypes to: Marfan Syndrome, biallelic, OMIM:154700, FBN1-related Marfan syndrome, OMIM:154700, MARFAN SYNDROME, OMIM:154700, WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, FBN1-related Weill-Marchesani syndrome, OMIM:608328, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | DNA2 | Achchuthan Shanmugasundram edited their review of gene: DNA2: Added comment: The DDG2P confidence category for the disease DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;37055165;31045292).; Changed rating: GREEN; Changed publications to: 31045292, 24389050, 37055165; Changed phenotypes to: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | DHX9 | Achchuthan Shanmugasundram reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 37467750; Phenotypes: DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CWF19L1 | Achchuthan Shanmugasundram reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25361784, 33012273, 27016154, 26197978, 36453471; Phenotypes: CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CRIPT | Achchuthan Shanmugasundram edited their review of gene: CRIPT: Added comment: The DDG2P confidence category for the disease CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;27250922;36630262;37013901).; Changed rating: GREEN; Changed publications to: 36630262, 24389050, 37013901, 27250922; Changed phenotypes to: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789, CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CRELD1 | Achchuthan Shanmugasundram edited their review of gene: CRELD1: Added comment: The DDG2P confidence category for the disease CRELD1-related neurodevelopmental disorder with hypotonia and seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 37947183). The DDG2P confidence category for the disease HETEROTAXY SYNDROME, OMIM:207574 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; Changed publications to: 37947183; Changed phenotypes to: CRELD1-related neurodevelopmental disorder with hypotonia and seizures, HETEROTAXY SYNDROME, OMIM:207574; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CCDC88A | Achchuthan Shanmugasundram edited their review of gene: CCDC88A: Added comment: The DDG2P confidence category for the disease CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;decreased gene product level (PMID: 37798908;30392057;26917597).; Changed rating: GREEN; Changed publications to: 37798908, 30392057, 26917597; Changed phenotypes to: PEHO-like syndrome, OMIM:617507, CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CASP2 | Achchuthan Shanmugasundram edited their review of gene: CASP2: Added comment: The DDG2P confidence category for the disease CASP2-related developmental disorder with lissencephaly is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 37880421;21937992).; Changed rating: GREEN; Changed publications to: 21937992, 37880421; Changed phenotypes to: CASP2-related developmental disorder with lissencephaly, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CAMTA1 | Achchuthan Shanmugasundram edited their review of gene: CAMTA1: Added comment: The DDG2P confidence category for the disease CAMTA1-related cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22693284;38044714).; Changed publications to: 22693284, 38044714; Changed phenotypes to: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614756, CAMTA1-related cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CAMK2D | Achchuthan Shanmugasundram reviewed gene: CAMK2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38272033; Phenotypes: CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | C4orf26 | Achchuthan Shanmugasundram edited their review of gene: C4orf26: Added comment: The DDG2P confidence category for the disease ODAPH-related Amyelogenesis Imperfecta, OMIM:614832 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 22901946).; Changed phenotypes to: ODAPH-related Amyelogenesis Imperfecta, OMIM:614832, AMYELOGENESIS, OMIM:614832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | BORCS8 | Achchuthan Shanmugasundram reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38128568; Phenotypes: BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | ARL6 | Achchuthan Shanmugasundram edited their review of gene: ARL6: Added comment: The DDG2P confidence category for the disease BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 15258860;16606853;10973238;15314642;9714014;11567139;8298649;12118255;20618352; 18203199;18327255;15137946;20805367;17160889;12524598;16582908;11381270;20671153;12016587; 14520415;7987310;7711739;12567324;21937992;16308660;12837689;10973251;22353939;16380913). The DDG2P confidence category for the disease ARL6-related retinal dystrophy, OMIM:613575 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 31736247;28130426;19956407).; Changed publications to: 17160889, 14520415, 16380913, 20805367, 15258860, 12118255, 18327255, 22353939, 21937992, 8298649, 11381270, 15137946, 16606853, 20671153, 16582908, 15314642, 7987310, 10973238, 12567324, 10973251, 16308660, 12837689, 20618352, 9714014, 12524598, 7711739, 19956407, 31736247, 12016587, 28130426, 18203199, 11567139; Changed phenotypes to: RETINITIS PIGMENTOSA TYPE 55, OMIM:613575, BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, ARL6-related retinal dystrophy, OMIM:613575 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | AMFR | Achchuthan Shanmugasundram reviewed gene: AMFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 37119330; Phenotypes: AMFR-related spastic paraplegia with/without neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | ACTC1 | Achchuthan Shanmugasundram reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38278647, 37457373; Phenotypes: ACTC1-related distal arthrogryposis with congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | ZBTB11 |
Achchuthan Shanmugasundram gene: ZBTB11 was added gene: ZBTB11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB11 were set to 31130284; 35104841; 36068688; 29893856; 38899514 Phenotypes for gene: ZBTB11 were set to ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder Mode of pathogenicity for gene: ZBTB11 was set to Other |
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| DDG2P v4.9 | TSPEAR |
Achchuthan Shanmugasundram gene: TSPEAR was added gene: TSPEAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPEAR were set to 34042254; 27736875; 37009414 Phenotypes for gene: TSPEAR were set to TSPEAR-related ectodermal dysplasia and tooth agenesis |
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| DDG2P v4.9 | TOR1A |
Achchuthan Shanmugasundram gene: TOR1A was added gene: TOR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1A were set to 30244176; 33175450; 33832800; 28516161; 36757831 Phenotypes for gene: TOR1A were set to TOR1A-associated arthrogryposis multiplex congenita (AR) |
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| DDG2P v4.9 | TDP2 |
Achchuthan Shanmugasundram gene: TDP2 was added gene: TDP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDP2 were set to 34606976; 31410782; 32651480; 30109272; 24658003 Phenotypes for gene: TDP2 were set to TDP2-related spinocerebellar ataxia with seizures and developmental delay |
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| DDG2P v4.9 | SNAPC4 |
Achchuthan Shanmugasundram gene: SNAPC4 was added gene: SNAPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAPC4 were set to 22222761; 36965478 Phenotypes for gene: SNAPC4 were set to SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, OMIM:620515 |
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| DDG2P v4.9 | SART3 |
Achchuthan Shanmugasundram gene: SART3 was added gene: SART3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SART3 were set to 37296101 Phenotypes for gene: SART3 were set to SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) Mode of pathogenicity for gene: SART3 was set to Other |
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| DDG2P v4.9 | RRAGC |
Achchuthan Shanmugasundram gene: RRAGC was added gene: RRAGC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAGC were set to 37057673; 27234373 Phenotypes for gene: RRAGC were set to RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts Mode of pathogenicity for gene: RRAGC was set to Other |
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| DDG2P v4.9 | RABGAP1 |
Achchuthan Shanmugasundram gene: RABGAP1 was added gene: RABGAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RABGAP1 were set to 36083289 Phenotypes for gene: RABGAP1 were set to RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss |
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| DDG2P v4.9 | LSM11 |
Achchuthan Shanmugasundram gene: LSM11 was added gene: LSM11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSM11 were set to 33230297 Phenotypes for gene: LSM11 were set to LSM11-related Aicardi-Goutieres syndrome Mode of pathogenicity for gene: LSM11 was set to Other |
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| DDG2P v4.9 | LMOD2 |
Achchuthan Shanmugasundram gene: LMOD2 was added gene: LMOD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD2 were set to 35188328; 34888509; 35082396; 31517052; 37296576 Phenotypes for gene: LMOD2 were set to LMOD2-related infantile dilated cardiomyopathy |
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| DDG2P v4.9 | INTS11 |
Achchuthan Shanmugasundram gene: INTS11 was added gene: INTS11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711; 37980560 Phenotypes for gene: INTS11 were set to INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 Mode of pathogenicity for gene: INTS11 was set to Other |
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| DDG2P v4.9 | INTS1 |
Achchuthan Shanmugasundram gene: INTS1 was added gene: INTS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS1 were set to 28542170; 30622326; 31428919 Phenotypes for gene: INTS1 were set to INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality |
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| DDG2P v4.9 | HMGCR |
Achchuthan Shanmugasundram gene: HMGCR was added gene: HMGCR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCR were set to 37167966; 36745799 Phenotypes for gene: HMGCR were set to HMGCR-related limb-girdle muscular dystrophy Mode of pathogenicity for gene: HMGCR was set to Other |
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| DDG2P v4.9 | FILIP1 |
Achchuthan Shanmugasundram gene: FILIP1 was added gene: FILIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to 36943452 Phenotypes for gene: FILIP1 were set to FILIP1-related arthrogryposis multiplex congenita with microcephaly |
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| DDG2P v4.9 | DHX9 |
Achchuthan Shanmugasundram gene: DHX9 was added gene: DHX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DHX9 were set to 37467750 Phenotypes for gene: DHX9 were set to DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease |
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| DDG2P v4.9 | CWF19L1 |
Achchuthan Shanmugasundram gene: CWF19L1 was added gene: CWF19L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to 25361784; 33012273; 27016154; 26197978; 36453471 Phenotypes for gene: CWF19L1 were set to CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy |
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| DDG2P v4.9 | CAMK2D |
Achchuthan Shanmugasundram gene: CAMK2D was added gene: CAMK2D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK2D were set to 38272033 Phenotypes for gene: CAMK2D were set to CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy Mode of pathogenicity for gene: CAMK2D was set to Other |
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| DDG2P v4.9 | BORCS8 |
Achchuthan Shanmugasundram gene: BORCS8 was added gene: BORCS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS8 were set to 38128568 Phenotypes for gene: BORCS8 were set to BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease Mode of pathogenicity for gene: BORCS8 was set to Other |
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| DDG2P v4.9 | AMFR |
Achchuthan Shanmugasundram gene: AMFR was added gene: AMFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMFR were set to 37119330 Phenotypes for gene: AMFR were set to AMFR-related spastic paraplegia with/without neurodevelopmental delay |
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| DDG2P v4.9 | ACTC1 |
Achchuthan Shanmugasundram gene: ACTC1 was added gene: ACTC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTC1 were set to 38278647; 37457373 Phenotypes for gene: ACTC1 were set to ACTC1-related distal arthrogryposis with congenital heart disease Mode of pathogenicity for gene: ACTC1 was set to Other |
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| DDG2P v4.6 | RNU12 | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | SNORD118 | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | RNU4ATAC | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.4 | AFF2 | Sarah Leigh Phenotypes for gene: AFF2 were changed from FRAGILE X-E MENTAL RETARDATION SYNDROME 309548 to Intellectual developmental disorder, X-linked 109, OMIM:309548; FRAXE intellectual disability, MONDO:0010659 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.3 | CASP2 | Arina Puzriakova Phenotypes for gene: CASP2 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.88 | PCNT | Arina Puzriakova Phenotypes for gene: PCNT were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.86 | ASCC3 | Arina Puzriakova Phenotypes for gene: ASCC3 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.82 | CAPRIN1 | Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.82 | CAPRIN1 | Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.81 | CAPRIN1 | Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from AUTISM OR INTELLECTUAL DISABILITY to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | ARHGAP35 | Eleanor Williams commented on gene: ARHGAP35 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | WARS | Achchuthan Shanmugasundram commented on gene: WARS: Added new-gene-name tag, new approved HGNC gene symbol for WARS is WARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | ARHGAP35 | Eleanor Williams Tag gene-checked tag was added to gene: ARHGAP35. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | ARF3 | Eleanor Williams commented on gene: ARF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | ARF3 | Eleanor Williams Tag gene-checked tag was added to gene: ARF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | TARS | Achchuthan Shanmugasundram commented on gene: TARS: Added new-gene-name tag, new approved HGNC gene symbol for TARS is TARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | SARS | Achchuthan Shanmugasundram commented on gene: SARS: Added new-gene-name tag, new approved HGNC gene symbol for SARS is SARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | RARS | Achchuthan Shanmugasundram commented on gene: RARS: Added new-gene-name tag, new approved HGNC gene symbol for RARS is RARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | NARS | Achchuthan Shanmugasundram commented on gene: NARS: Added new-gene-name tag, new approved HGNC gene symbol for NARS is NARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| 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). |
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| DDG2P v3.71 | EDNRB | Achchuthan Shanmugasundram changed review comment from: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.; to: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.71 | EDNRB | Achchuthan Shanmugasundram commented on gene: EDNRB: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.71 | NUP107 | Achchuthan Shanmugasundram Phenotypes for gene: NUP107 were changed from GALLOWAY-MOWAT SYNDROME 7, 618348; EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME 7, OMIM:618348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.70 | CRYGD | Achchuthan Shanmugasundram Phenotypes for gene: CRYGD were changed from Cataract 2, multiple types, OMIM:115700 to Cataract 2, multiple types, OMIM:115700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.70 | CRYGD | Achchuthan Shanmugasundram Phenotypes for gene: CRYGD were changed from Cataract 2, multiple types, OMIM:115700 to Cataract 2, multiple types, OMIM:115700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.70 | CRYGD | Achchuthan Shanmugasundram Phenotypes for gene: CRYGD were changed from CATARACT CONGENITAL CERULEAN TYPE 3 115700; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700 to Cataract 2, multiple types, OMIM:115700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.69 | CRYBA4 | Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.69 | CRYBA4 | Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.69 | CRYBA4 | Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from CATARACT ZONULAR TYPE 2 610425; MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.68 | CRADD | Achchuthan Shanmugasundram Phenotypes for gene: CRADD were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.68 | CRADD | Achchuthan Shanmugasundram Phenotypes for gene: CRADD were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.68 | CRADD | Achchuthan Shanmugasundram Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly; MENTAL RETARDATION, NON-SYNDROMIC 614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.64 | XYLT1 | Achchuthan Shanmugasundram Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 to DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.64 | XYLT1 | Achchuthan Shanmugasundram Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 to DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.64 | XYLT1 | Achchuthan Shanmugasundram Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 615777; Baratela Scott Syndrome to DESBUQUOIS DYSPLASIA 2, OMIM:615777; Baratela Scott Syndrome, OMIM:615777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.63 | XYLT1 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DESBUQUOIS DYSPLASIA 2, OMIM:615777 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:24581741). The DDG2P confidence category for the disease Baratela Scott Syndrome, OMIM:615777 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and cis-regulatory or promotor mutation (PMID:30554721).; to: The DDG2P confidence category for the disease DESBUQUOIS DYSPLASIA 2, OMIM:615777 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:24581741). The DDG2P confidence category for the disease Baratela Scott Syndrome, OMIM:615777 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and cis-regulatory or promotor mutation (PMID:30554721). |
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| DDG2P v3.62 | TWIST2 | Achchuthan Shanmugasundram Phenotypes for gene: TWIST2 were changed from SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 to SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.62 | TWIST2 | Achchuthan Shanmugasundram Phenotypes for gene: TWIST2 were changed from SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 to SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.62 | TWIST2 | Achchuthan Shanmugasundram Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 to SETLEIS SYNDROME, OMIM:227260; ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| DDG2P v3.60 | TBCE | Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.60 | TBCE | Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.60 | TBCE | Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 241410; KENNY-CAFFEY SYNDROME TYPE 1 244460 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.59 | TBCE |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:12389028). The DDG2P confidence category for the disease Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:27666369).; to: The DDG2P confidence category for the disease HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:12389028). The DDG2P confidence category for the disease Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:27666369). |
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| 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. |
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| 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. |
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| DDG2P v3.56 | PCGF2 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Craniofacial Neurological Cardiovascular and Skeletal Features is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30526864). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease Craniofacial Neurological Cardiovascular and Skeletal Features is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30526864). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure. |
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| DDG2P v3.55 | MYH3 | Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.55 | MYH3 | Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.55 | MYH3 | Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| DDG2P v3.53 | MITF | Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.53 | MITF | Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.53 | MITF | Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| DDG2P v3.52 | MAGEL2 | Achchuthan Shanmugasundram Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome, OMIM:615547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.51 | MAFB | Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.51 | MAFB | Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.51 | MAFB | Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.51 | MAFB | Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.50 | MAFB |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22387013). The DDG2P confidence category for the disease Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:27181683).; to: The DDG2P confidence category for the disease MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22387013). The DDG2P confidence category for the disease Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:27181683). |
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| DDG2P v3.50 | LRP2 | Achchuthan Shanmugasundram Phenotypes for gene: LRP2 were changed from DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 to DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.50 | LRP2 | Achchuthan Shanmugasundram Phenotypes for gene: LRP2 were changed from DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 to DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.50 | LRP2 | Achchuthan Shanmugasundram Phenotypes for gene: LRP2 were changed from INTELLECTUAL DISABILITY; DONNAI-BARROW SYNDROME 222448 to DONNAI-BARROW SYNDROME, OMIM:222448; INTELLECTUAL DISABILITY, OMIM:616579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| DDG2P v3.49 | KCNK4 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154). The DDG2P confidence category for the disease FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154).; to: The DDG2P confidence category for the disease Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154). The DDG2P confidence category for the disease FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154). |
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| DDG2P v3.47 | ITPR1 | Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 to Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.47 | ITPR1 | Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 to Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.47 | ITPR1 | Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome 206700 to Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| DDG2P v3.45 | IFIH1 | Achchuthan Shanmugasundram Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.45 | IFIH1 | Achchuthan Shanmugasundram Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.45 | IFIH1 | Achchuthan Shanmugasundram Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7 615846; SINGLETON-MERTEN SYNDROME 182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.44 | IFIH1 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease AICARDI-GOUTIERES SYNDROME 7, OMIM:615846 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24995871). The DDG2P confidence category for the disease SINGLETON-MERTEN SYNDROME, OMIM:182250 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:25620204).; to: The DDG2P confidence category for the disease AICARDI-GOUTIERES SYNDROME 7, OMIM:615846 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24995871). The DDG2P confidence category for the disease SINGLETON-MERTEN SYNDROME, OMIM:182250 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:25620204). |
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| DDG2P v3.44 | GJA1 | Achchuthan Shanmugasundram Phenotypes for gene: GJA1 were changed from HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 to HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.44 | GJA1 | Achchuthan Shanmugasundram Phenotypes for gene: GJA1 were changed from HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 to HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.44 | GJA1 | Achchuthan Shanmugasundram Phenotypes for gene: GJA1 were changed from HALLERMANN-STREIFF SYNDROME 234100; HYPOPLASTIC LEFT HEART SYNDROME 241550; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850; SYNDACTYLY TYPE 3 186100 to HALLERMANN-STREIFF SYNDROME, OMIM:234100; SYNDACTYLY TYPE 3, OMIM:186100; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200; HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| DDG2P v3.43 | FBXO11 | Achchuthan Shanmugasundram Phenotypes for gene: FBXO11 were changed from FBXO11 related intellectual disability; Variable Neurodevelopmental Disorder to Variable Neurodevelopmental Disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| DDG2P v3.42 | FBN1 | Achchuthan Shanmugasundram Phenotypes for gene: FBN1 were changed from WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700 to WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.42 | FBN1 | Achchuthan Shanmugasundram Phenotypes for gene: FBN1 were changed from WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700 to WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.42 | FBN1 | Achchuthan Shanmugasundram Phenotypes for gene: FBN1 were changed from ISOLATED ECTOPIA LENTIS 129600; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212; MARFAN SYNDROME 154700; WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308 to WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328; MARFAN SYNDROME, OMIM:154700; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Marfan Syndrome, biallelic, OMIM:154700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.40 | PIK3CA | Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.40 | PIK3CA | Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.40 | PIK3CA | Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501; HEMIMEGALENCEPHALY PIK3CA to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.39 | FGFR1 | Achchuthan Shanmugasundram Phenotypes for gene: FGFR1 were changed from Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465 to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.39 | FGFR1 | Achchuthan Shanmugasundram Phenotypes for gene: FGFR1 were changed from PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome 615465; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis 613001 to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.38 | PCDH19 | Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.38 | PCDH19 | Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.38 | PCDH19 | Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.36 | LMNA | Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.36 | LMNA | Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.36 | LMNA | Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660; CARDIOMYOPATHY DILATED TYPE 1A 115200; HUTCHINSON-GILFORD PROGERIA SYNDROME 176670; LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210; HEART-HAND SYNDROME SLOVENIAN TYPE 610140; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.35 | GJB3 | Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.35 | GJB3 | Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.35 | GJB3 | Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B 612644; DEAFNESS, AUTOSOMAL RECESSIVE; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200 to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE 158300; CARNEY COMPLEX VARIANT 608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| 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. |
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| DDG2P v3.33 | KARS | Achchuthan Shanmugasundram Phenotypes for gene: KARS were changed from DEAFNESS, AUTOSOMAL RECESSIVE 89 613916; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641 to DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916; KARS1-related leukoencephalopathy with or without deafness, OMIM:619147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| 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. |
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| DDG2P v3.31 | AR |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: AR. Tag Q3_22_expert_review was removed from gene: AR. |
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| DDG2P v3.31 | AR | Achchuthan Shanmugasundram commented on gene: AR: The GMS review tags have now been removed as this panel has been updated with the recent version of the DD panel (July 2023) from Gene2Phenotype database. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.31 | AR | Achchuthan Shanmugasundram Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 to SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.31 | AR | Achchuthan Shanmugasundram Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 to SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.31 | AR | Achchuthan Shanmugasundram Phenotypes for gene: AR were changed from ANDROGEN INSENSITIVITY SYNDROME 300068; SPINAL AND BULBAR MUSCULAR ATROPHY 313200 to SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200; ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| DDG2P v3.30 | SMAD4 | Achchuthan Shanmugasundram Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.30 | SMAD4 | Achchuthan Shanmugasundram Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050; MYHRE SYNDROME, OMIM:139210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| 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). |
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| DDG2P v3.29 | ANO5 | Achchuthan Shanmugasundram Phenotypes for gene: ANO5 were changed from LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 to LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.29 | ANO5 | Achchuthan Shanmugasundram Phenotypes for gene: ANO5 were changed from GNATHODIAPHYSEAL DYSPLASIA 166260; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307; MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319 to LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| 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 v3.27 | SYNE1 | Achchuthan Shanmugasundram Phenotypes for gene: SYNE1 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.27 | SYNE1 | Achchuthan Shanmugasundram Phenotypes for gene: SYNE1 were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743 to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.26 | SPTLC2 | Achchuthan Shanmugasundram Phenotypes for gene: SPTLC2 were changed from NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640 to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.24 | LDB3 | Achchuthan Shanmugasundram Phenotypes for gene: LDB3 were changed from MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 to MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.24 | LDB3 | Achchuthan Shanmugasundram Phenotypes for gene: LDB3 were changed from LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493; CARDIOMYOPATHY DILATED TYPE 1C 601493; MYOPATHY MYOFIBRILLAR TYPE 4 609452 to MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.21 | KCNK9 | Achchuthan Shanmugasundram Phenotypes for gene: KCNK9 were changed from BIRK-BAREL SYNDROME, OMIM:612292 to BIRK-BAREL SYNDROME, OMIM:612292 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.21 | KCNK9 | Achchuthan Shanmugasundram Phenotypes for gene: KCNK9 were changed from BIRK-BAREL SYNDROME, OMIM:612292 to BIRK-BAREL SYNDROME, OMIM:612292 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.21 | KCNK9 | Achchuthan Shanmugasundram Phenotypes for gene: KCNK9 were changed from BIRK-BAREL SYNDROME 612292 to BIRK-BAREL SYNDROME, OMIM:612292 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.19 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.19 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.19 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| DDG2P v3.18 | GNAS | Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.18 | GNAS | Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.18 | GNAS | Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from GNAS HYPERFUNCTION 139320; PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233; ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.16 | SMO |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic. The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).; to: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic. The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283). |
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| 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). |
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| 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). |
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| DDG2P v3.16 | FMR1 | Achchuthan Shanmugasundram Phenotypes for gene: FMR1 were changed from FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624 to FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.16 | FMR1 | Achchuthan Shanmugasundram Phenotypes for gene: FMR1 were changed from FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624 to FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.16 | FMR1 | Achchuthan Shanmugasundram Phenotypes for gene: FMR1 were changed from FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624 to FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.16 | FMR1 | Achchuthan Shanmugasundram Phenotypes for gene: FMR1 were changed from PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 311360; FRAGILE X SYNDROME 300624; FRAGILE X TREMOR/ATAXIA SYNDROME 300623 to FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360; FRAGILE X SYNDROME, OMIM:300624 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.15 | 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. 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.; 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. |
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| 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). |
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| DDG2P v3.15 | AARS | Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.15 | AARS | Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.15 | AARS | Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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). |
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| DDG2P v3.14 | PIK3CA |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22658544). The DDG2P confidence category for the disease MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22729224). The DDG2P confidence category for the disease HEMIMEGALENCEPHALY PIK3CA is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:22658544). The DDG2P confidence category for the disease MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:22729224). The DDG2P confidence category for the disease HEMIMEGALENCEPHALY PIK3CA is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively. |
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| 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). |
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| 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). |
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| 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 | ARF3 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: ARF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| 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. |
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| 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. |
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| 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). |
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| DDG2P v3.14 | SMO | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure. The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).; to: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic. The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 Tag de novo was removed from gene: SARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | SARS | Achchuthan Shanmugasundram Tag de novo tag was added to gene: SARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.13 | WARS | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: WARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.13 | SARS | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.13 | RARS | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: RARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.13 | NARS | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: NARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZMYND10 | Achchuthan Shanmugasundram reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: ; Publications: 23891471; Phenotypes: PRIMARY CILIARY DYSKINESIA-22, OMIM:615444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZFYVE26 | Achchuthan Shanmugasundram reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: 18098276, 11342696, 19805727, 17661097; Phenotypes: SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15, OMIM:270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ZC4H2 | Achchuthan Shanmugasundram reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: ; Publications: 4039531, 1915520, 31206972, 36250278, 23623388; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, OMIM:314580, ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, hemizygous, OMIM:314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | YWHAG | Achchuthan Shanmugasundram reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28777935; Phenotypes: Early-Onset Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | YARS2 | Achchuthan Shanmugasundram reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23918765, 30026338, 20598274; Phenotypes: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | YAP1 | Achchuthan Shanmugasundram reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24462371, 27267789; Phenotypes: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | XYLT2 | Achchuthan Shanmugasundram reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26987875, 28884924, 26027496, 29136277; Phenotypes: SPONDYLOOCULAR SYNDROME, OMIM:605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | XYLT1 | Achchuthan Shanmugasundram reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24581741, 30554721; Phenotypes: DESBUQUOIS DYSPLASIA 2, OMIM:615777, Baratela Scott Syndrome, OMIM:615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | XRCC4 | Achchuthan Shanmugasundram reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25728776; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WWOX | Achchuthan Shanmugasundram reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 24369382, 24456803; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, OMIM:616211, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, OMIM:614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDR81 | Achchuthan Shanmugasundram reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: Other; Publications: 21885617; Phenotypes: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 2, OMIM:610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDPCP | Achchuthan Shanmugasundram reviewed gene: WDPCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BARDET-BIEDL SYNDROME TYPE 15, OMIM:615992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WDFY3 | Achchuthan Shanmugasundram reviewed gene: WDFY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327001; Phenotypes: Primary Microcephaly or macrocephaly with developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WASHC5 | Achchuthan Shanmugasundram reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24065355; Phenotypes: WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WARS | Achchuthan Shanmugasundram reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369220, 31321409, 31069783, 35815345; Phenotypes: WARS1-associated neurodevelopmental syndrome, Distal hereditary motor neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VSX2 | Achchuthan Shanmugasundram reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, OMIM:610092, MICROPHTHALMIA ISOLATED TYPE 2, OMIM:610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VRK1 | Achchuthan Shanmugasundram reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19646678; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VPS33B | Achchuthan Shanmugasundram reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, OMIM:208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VLDLR | Achchuthan Shanmugasundram reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 18326629, 18043714, 16080122; Phenotypes: CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 1, OMIM:224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VIPAS39 | Achchuthan Shanmugasundram reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, OMIM:613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | USP14 | Achchuthan Shanmugasundram reviewed gene: USP14: Rating: RED; Mode of pathogenicity: Other; Publications: 35066879; Phenotypes: DISTAL ARTHROGRYPOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UQCRFS1 | Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UNC80 | Achchuthan Shanmugasundram reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: ; Publications: 26708753, 26708751; Phenotypes: Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UGT1A1 | Achchuthan Shanmugasundram reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9497253, 9295054, 11968090, 9039987; Phenotypes: CRIGLER-NAJJAR SYNDROME, TYPE I, OMIM:218800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UFM1 | Achchuthan Shanmugasundram reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UFC1 | Achchuthan Shanmugasundram reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBR1 | Achchuthan Shanmugasundram reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19006206, 16311597, 18553553; Phenotypes: JOHANSON-BLIZZARD SYNDROME, OMIM:243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBE3B | Achchuthan Shanmugasundram reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23200864, 21567902; Phenotypes: BLEPHAROPHIMOSIS-INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:615057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TWIST2 | Achchuthan Shanmugasundram reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14069095, 26119818, 21931173, 8818454; Phenotypes: SETLEIS SYNDROME, OMIM:227260, ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTN | Achchuthan Shanmugasundram reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 31660661, 32778822, 29575618, 36495114, 29691892, 17444505, 35605965, 28040389; Phenotypes: Autosomal recessive titinopathy with arthrogryposis and/or myopathy , OMIM:611705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTC8 | Achchuthan Shanmugasundram reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451172; Phenotypes: RETINITIS PIGMENTOSA TYPE 51, OMIM:613464, BARDET-BIEDL SYNDROME TYPE 8, OMIM:615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTC25 | Achchuthan Shanmugasundram reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: 27486780; Phenotypes: Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TTC12 | Achchuthan Shanmugasundram reviewed gene: TTC12: Rating: RED; Mode of pathogenicity: ; Publications: 31978331; Phenotypes: TTC12-related Primary Ciliary Dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSEN54 | Achchuthan Shanmugasundram reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSEN34 | Achchuthan Shanmugasundram reviewed gene: TSEN34: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSEN2 | Achchuthan Shanmugasundram reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TSEN15 | Achchuthan Shanmugasundram reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27392077; Phenotypes: Pontocerebellar Hypoplasia and Progressive Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPV6 | Achchuthan Shanmugasundram reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29861107; Phenotypes: Transient Neonatal Hyperparathyroidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPM1 | Achchuthan Shanmugasundram reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19878917, 20300565, 19896113, 19896109; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C, OMIM:613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIP4 | Achchuthan Shanmugasundram reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26924529; Phenotypes: Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIP13 | Achchuthan Shanmugasundram reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: ; Publications: 28553959; Phenotypes: Mosaic Variegated Aneuploidy and Wilms Tumour; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRIM32 | Achchuthan Shanmugasundram reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: ; Publications: 11822024, 17994549, 16606853; Phenotypes: BARDET-BIEDL SYNDROME TYPE 11, OMIM:615988, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H, OMIM:254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TREX1 | Achchuthan Shanmugasundram reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17357087, 16845398; Phenotypes: AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, OMIM:225750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC2L | Achchuthan Shanmugasundram reviewed gene: TRAPPC2L: Rating: RED; Mode of pathogenicity: Other; Publications: 32843486, 30120216; Phenotypes: TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC2 | Achchuthan Shanmugasundram reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, OMIM:313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAPPC11 | Achchuthan Shanmugasundram reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23830518; Phenotypes: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, OMIM:615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRAIP | Achchuthan Shanmugasundram reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26595769; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TPM2 | Achchuthan Shanmugasundram reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12592607; Phenotypes: ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TP73 | Achchuthan Shanmugasundram reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: 34077761; Phenotypes: TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TP63 | Achchuthan Shanmugasundram reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: ; Publications: 14684701, 15736220, 19530185, 10535733, 12939657, 11528512, 12766194, 12838557, 11462173, 9443880, 17609671, 21204238, 11159940, 16740912, 10886756, 3366140, 11929852, 19239083, 16724007, 10839977, 16114047; Phenotypes: LIMB-MAMMARY SYNDROME, OMIM:603543, ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, OMIM:106260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TOGARAM1 | Achchuthan Shanmugasundram reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32747439, 32453716; Phenotypes: TOGARAM1-related ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TOE1 | Achchuthan Shanmugasundram reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 28092684; Phenotypes: PONTOCEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TNFRSF13B | Achchuthan Shanmugasundram reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16007086; Phenotypes: IMMUNODEFICIENCY, COMMON VARIABLE, 2, OMIM:240500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMX2 | Achchuthan Shanmugasundram reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31735293; Phenotypes: Primary microcephaly, cortical malformation and epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM94 | Achchuthan Shanmugasundram reviewed gene: TMEM94: Rating: GREEN; Mode of pathogenicity: ; Publications: 30526868; Phenotypes: Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM70 | Achchuthan Shanmugasundram reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: ; Publications: 21147908, 18953340; Phenotypes: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, OMIM:614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM63C | Achchuthan Shanmugasundram reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: ; Publications: 35718349; Phenotypes: TMEM63C-associated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM260 | Achchuthan Shanmugasundram reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: ; Publications: 28318500; Phenotypes: Neurodevelopmental, Cardiac, and Renal Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM240 | Achchuthan Shanmugasundram reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: 30522958, 25070513, 29687291, 32705938, 26813285; Phenotypes: TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TMEM114 | Achchuthan Shanmugasundram reviewed gene: TMEM114: Rating: RED; Mode of pathogenicity: ; Publications: 17492639, 24357539; Phenotypes: CONGENITAL AND JUVENILE CATARACT, OMIM:611579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TKT | Achchuthan Shanmugasundram reviewed gene: TKT: Rating: GREEN; Mode of pathogenicity: ; Publications: 27259054; Phenotypes: Short Stature, Developmental Delay, and Congenital Heart Defects, OMIM:617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TKFC | Achchuthan Shanmugasundram reviewed gene: TKFC: Rating: RED; Mode of pathogenicity: ; Publications: 32004446; Phenotypes: TKFC-related Cataracts and Multisystem Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TINF2 | Achchuthan Shanmugasundram reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252230; Phenotypes: EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE, OMIM:268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | THG1L | Achchuthan Shanmugasundram reviewed gene: THG1L: Rating: RED; Mode of pathogenicity: Other; Publications: 30214071, 27307223, 31168944, 33682303; Phenotypes: THG1L-associated cerebellar ataxia, OMIM:618800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TFE3 | Achchuthan Shanmugasundram reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 33057194, 32409512, 31833172; Phenotypes: TFE3-related intellectual disability with pigmentary mosaicism, Intellectual disability with pigmentary mosaicism and storage disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TFAP2B | Achchuthan Shanmugasundram reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10802654, 11505339, 7645594; Phenotypes: CHAR SYNDROME, OMIM:169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TECPR2 | Achchuthan Shanmugasundram reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176824; Phenotypes: HEREDITARY SPASTIC PARAPARESIS, OMIM:615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TDRD7 | Achchuthan Shanmugasundram reviewed gene: TDRD7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX4 | Achchuthan Shanmugasundram reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11303519, 15106123, 31761294; Phenotypes: SMALL PATELLA SYNDROME, OMIM:147891, Posterior Amelia with Pelvic and Pulmonary Hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX3 | Achchuthan Shanmugasundram reviewed gene: TBX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207801, 19938096, 12668170, 12116211; Phenotypes: ULNAR-MAMMARY SYNDROME, OMIM:181450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBX18 | Achchuthan Shanmugasundram reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: ; Publications: 26235987; Phenotypes: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, OMIM:143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBCE | Achchuthan Shanmugasundram reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 12389028, 27666369; Phenotypes: Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBCD | Achchuthan Shanmugasundram reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 27666374, 27666370; Phenotypes: Early-Onset Neurodegenerative Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBC1D23 | Achchuthan Shanmugasundram reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: ; Publications: 28823706, 28823707; Phenotypes: Non-degenerative Pontocerebellar Hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TBC1D20 | Achchuthan Shanmugasundram reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, OMIM:615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAZ | Achchuthan Shanmugasundram reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 8630491; Phenotypes: BARTH SYNDROME, OMIM:302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TARS | Achchuthan Shanmugasundram reviewed gene: TARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 31374204; Phenotypes: Non-photosensitive trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TANGO2 | Achchuthan Shanmugasundram reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805782, 26805781; Phenotypes: Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAB2 | Achchuthan Shanmugasundram reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 20493459; Phenotypes: CONGENITAL HEART DISEASE, NONSYNDROMIC, 2, OMIM:612863; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYNE1 | Achchuthan Shanmugasundram reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYN1 | Achchuthan Shanmugasundram reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OMIM:300491; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SUFU | Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28965847, 34675124, 33024317; Phenotypes: Joubert Syndrome with Cranio-facial and Skeletal Defects, SUFU-related Joubert and congenital ocular motor apraxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STXBP1 | Achchuthan Shanmugasundram reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469812, 29929108, 27069701, 25714420, 30654231, 21770924, 31387522, 24315539, 29544889, 29264391, 26212315, 32105008, 26384463, 19557857, 24170257, 29718889, 24095819, 27184330, 28944233, 29896790, 20876469, 26865513, 24623842, 31344879, 21204804, 20887364, 22596016, 25418441, 23533165, 24189369, 26514728, 23763664, 21762454, 23409955, 21364700, 21062273, 23531706, 25631041; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4, OMIM:612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STIM1 | Achchuthan Shanmugasundram reviewed gene: STIM1: Rating: RED; Mode of pathogenicity: Other; Publications: 23332920; Phenotypes: TUBULAR-AGGREGATE MYOPATHY, OMIM:160565; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STIL | Achchuthan Shanmugasundram reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19215732; Phenotypes: MICROCEPHALY PRIMARY TYPE 7, OMIM:612703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAR | Achchuthan Shanmugasundram reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8634702, 8948562, 16968793, 9141542, 7892608, 15546900, 14764819, 10566637, 10323391; Phenotypes: CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA, OMIM:201710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | STAMBP | Achchuthan Shanmugasundram reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23542699; Phenotypes: MICROCEPHALY CAPILLARY MALFORMATION (MIC-CAP) SYNDROME, OMIM:614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SRCAP | Achchuthan Shanmugasundram reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 33909990, 23621943, 30425916, 22265015, 30304910, 24375913, 23763483, 22965468, 23165645, 25433523, 26788936; Phenotypes: FLOATING-HARBOR SYNDROME, OMIM:136140, SRCAP-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPTLC2 | Achchuthan Shanmugasundram reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPTAN1 | Achchuthan Shanmugasundram reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36331550, 34590414, 22258530, 20493457, 29050398; Phenotypes: SPTAN1-related neurodevelopmental disorder with epilepsy and spastic paraplegia, OMIM:613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPRY1 | Achchuthan Shanmugasundram reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: Other; Publications: 36543535; Phenotypes: SPRY1-associated craniosynostosis with inner ear and renal anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPG11 | Achchuthan Shanmugasundram reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19194956, 17322883, 18067136, 17717710; Phenotypes: SPASTIC PARAPLEGIA-11, OMIM:604360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPEG | Achchuthan Shanmugasundram reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: ; Publications: 25087613; Phenotypes: CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY, OMIM:615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPATA5L1 | Achchuthan Shanmugasundram reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34626583; Phenotypes: SPATA5L1-associated sensorineural hearing loss and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPATA5 | Achchuthan Shanmugasundram reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299366; Phenotypes: EPILEPSY, HEARING LOSS, AND INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPARC | Achchuthan Shanmugasundram reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26027498; Phenotypes: OSTEOGENESIS IMPERFECTA, TYPE XVII, OMIM:616507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPAG1 | Achchuthan Shanmugasundram reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24055112; Phenotypes: PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOX10 | Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 18627047, 8911608, 21965087, 11026454, 10482261, 18348274, 23643381, 12447940, 9462749, 18348267, 19764030, 17999358, 19208381, 10077527, 20478267, 10762540; Phenotypes: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, OMIM:609136, WAARDENBURG SYNDROME TYPE 2E, OMIM:611584, YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME, OMIM:601706; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SOBP | Achchuthan Shanmugasundram reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: ; Publications: 21035105; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS, OMIM:613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNX14 | Achchuthan Shanmugasundram reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNRPB | Achchuthan Shanmugasundram reviewed gene: SNRPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBRO-COSTO-MANDIBULAR SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMPD4 | Achchuthan Shanmugasundram reviewed gene: SMPD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 31495489; Phenotypes: Developmental Disorder with Microcephaly and Congenital Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMCHD1 | Achchuthan Shanmugasundram reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28067909, 28067911; Phenotypes: Isolated Arhinia/Bosma Arhinia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCE1 | Achchuthan Shanmugasundram reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22426308; Phenotypes: COFFIN SIRIS, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCD1 | Achchuthan Shanmugasundram reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30879640; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCC2 | Achchuthan Shanmugasundram reviewed gene: SMARCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30580808; Phenotypes: Syndromic Intellectual Disability and Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCB1 | Achchuthan Shanmugasundram reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9671307, 22726846, 25249037, 23906836, 22426308, 10739763, 10521299, 23929686, 23815551, 29907796; Phenotypes: EHMT1-like SYNDROME, RHABDOID PREDISPOSITION SYNDROME 1, OMIM:609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCAL1 | Achchuthan Shanmugasundram reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11799392, 15523612; Phenotypes: SCHIMKE IMMUNOOSSEOUS DYSPLASIA, OMIM:242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCA4 | Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137775; Phenotypes: COFFIN SIRIS, OMIM:135900, RHABDOID TUMOR PREDISPOSITION SYNDROME 2, OMIM:613325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCA2 | Achchuthan Shanmugasundram reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22366787, 22426308, 32694869; Phenotypes: NICOLAIDES-BARAITSER SYNDROME, OMIM:601358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMAD4 | Achchuthan Shanmugasundram reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050, MYHRE SYNDROME, OMIM:139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMAD2 | Achchuthan Shanmugasundram reviewed gene: SMAD2: Rating: RED; Mode of pathogenicity: ; Publications: 30157302, 23665959; Phenotypes: CONGENITAL HEART DISEASE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A9 | Achchuthan Shanmugasundram reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773429; Phenotypes: Glycine Encephalopathy with Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A3 | Achchuthan Shanmugasundram reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PARKINSONISM-DYSTONIA, INFANTILE, OMIM:319029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC4A4 | Achchuthan Shanmugasundram reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11274232, 10545938; Phenotypes: PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES, OMIM:604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC4A1 | Achchuthan Shanmugasundram reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: RENAL TUBULAR ACIDOSIS, DISTAL, AR, OMIM:611590, RENAL TUBULAR ACIDOSIS, DISTAL, AD, OMIM:179800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC46A1 | Achchuthan Shanmugasundram reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11804211, 20795774, 17446347, 21333572, 18559978, 11807405; Phenotypes: HEREDITARY FOLATE MALABSORPTION, OMIM:229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC39A8 | Achchuthan Shanmugasundram reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637978, 26637979; Phenotypes: Intellectual Disability with Cerebellar Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC33A1 | Achchuthan Shanmugasundram reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC2A10 | Achchuthan Shanmugasundram reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 14569121, 17935213, 16550171; Phenotypes: ARTERIAL TORTUOSITY SYNDROME, OMIM:208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A42 | Achchuthan Shanmugasundram reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: ; Publications: 29923093, 29327420, 26541337; Phenotypes: SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A4 | Achchuthan Shanmugasundram reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27693233, 30046662, 30329211; Phenotypes: Fontaine progeroid syndrome, Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A24 | Achchuthan Shanmugasundram reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100094, 29100093; Phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS), Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A22 | Achchuthan Shanmugasundram reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, OMIM:609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC25A20 | Achchuthan Shanmugasundram reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: ; Publications: 9399886, 10697964, 9686371, 12859414, 10384384; Phenotypes: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, OMIM:212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC24A1 | Achchuthan Shanmugasundram reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: ; Publications: 20850105; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D, OMIM:613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC22A5 | Achchuthan Shanmugasundram reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9916797, 2235122, 10480371, 15714519, 9634512, 3974805, 10425211, 10051646, 20027113, 9700603, 11058897; Phenotypes: SYSTEMIC PRIMARY CARNITINE DEFICIENCY, OMIM:212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIX6 | Achchuthan Shanmugasundram reviewed gene: SIX6: Rating: RED; Mode of pathogenicity: Other; Publications: 15266624; Phenotypes: MICROPHTHALMIA, ISOLATED, WITH CATARACT 2, OMIM:212550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIL1 | Achchuthan Shanmugasundram reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17026626, 18285827, 20111056, 16282978, 16282977; Phenotypes: MARINESCO-SJOEGREN SYNDROME, OMIM:248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SH3PXD2B | Achchuthan Shanmugasundram reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777, 7158646, 15523657; Phenotypes: FRANK-TER HAAR SYNDROME, OMIM:249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SGSH | Achchuthan Shanmugasundram reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3A, OMIM:252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEPSECS | Achchuthan Shanmugasundram reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805434, 29464431, 26888482; Phenotypes: Pontocerebellar hypoplasia type 2D, OMIM:613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SELENOI | Achchuthan Shanmugasundram reviewed gene: SELENOI: Rating: GREEN; Mode of pathogenicity: ; Publications: 29500230, 28052917; Phenotypes: EPT1-related complex progressive hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCYL1 | Achchuthan Shanmugasundram reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26581903; Phenotypes: Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCO2 | Achchuthan Shanmugasundram reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749987, 14994243, 10545952, 18924171; Phenotypes: FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY, OMIM:604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN8A | Achchuthan Shanmugasundram reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22365152, 16236810; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, OMIM:614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCN4A | Achchuthan Shanmugasundram reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 1310898, 1316765, 10599760, 10851391, 16890191, 1338909, 8388676, 17998485, 1659668, 19015492, 8580427, 11591859, 10369308, 15596759, 18203179, 1659948, 19015483, 10944223; Phenotypes: HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500, PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SCARF2 | Achchuthan Shanmugasundram reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21108395; Phenotypes: VAN DEN ENDE-GUPTA SYNDROME, OMIM:600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SARS2 | Achchuthan Shanmugasundram reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21255763, 33751860, 24034276; Phenotypes: SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SARS | Achchuthan Shanmugasundram reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28236339, 34570399, 36041817; Phenotypes: SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709, Autosomal dominant SARS1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SAMHD1 | Achchuthan Shanmugasundram reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AICARDI-GOUTIERES SYNDROME, OMIM:239588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SACS | Achchuthan Shanmugasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655055; Phenotypes: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, OMIM:270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RYR2 | Achchuthan Shanmugasundram reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: Other; Publications: 30170228; Phenotypes: RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RUBCN | Achchuthan Shanmugasundram reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RTN4IP1 | Achchuthan Shanmugasundram reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26593267; Phenotypes: EARLY-ONSET RECESSIVE OPTIC NEUROPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPH3 | Achchuthan Shanmugasundram reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26073779; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RSPH1 | Achchuthan Shanmugasundram reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993197; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPS23 | Achchuthan Shanmugasundram reviewed gene: RPS23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28257692; Phenotypes: Microcephaly, hearing loss, and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNU4ATAC | Achchuthan Shanmugasundram reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22581640, 21474761, 21474760, 17666473; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I, OMIM:210710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASEH2C | Achchuthan Shanmugasundram reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845400; Phenotypes: AICARDI-GOUTIERES SYNDROME 3, OMIM:610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASEH2B | Achchuthan Shanmugasundram reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845400; Phenotypes: AICARDI-GOUTIERES SYNDROME 2, OMIM:610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNASEH2A | Achchuthan Shanmugasundram reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15870678; Phenotypes: AICARDI-GOUTIERES SYNDROME 4, OMIM:610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RMRP | Achchuthan Shanmugasundram reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CARTILAGE-HAIR HYPOPLASIA, OMIM:250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RIN2 | Achchuthan Shanmugasundram reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19631308; Phenotypes: MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RFX6 | Achchuthan Shanmugasundram reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 15592663, 19887127, 18512226, 20148032; Phenotypes: MARTINEZ-FRIAS SYNDROME, OMIM:601346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RETREG1 | Achchuthan Shanmugasundram reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19838196; Phenotypes: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, OMIM:613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | REST | Achchuthan Shanmugasundram reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36509837; Phenotypes: REST-related gingival fibromatosis and sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBM10 | Achchuthan Shanmugasundram reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451169, 5410571, 30189253, 30450804, 35645043; Phenotypes: TARP SYNDROME, OMIM:311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RASA1 | Achchuthan Shanmugasundram reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: ; Publications: 18363760, 14639529; Phenotypes: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1, OMIM:608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RARS2 | Achchuthan Shanmugasundram reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 6, OMIM:611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RARS | Achchuthan Shanmugasundram reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28905880, 31814314; Phenotypes: RARS1 related hypomyelinating leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RARB | Achchuthan Shanmugasundram reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27120018, 24075189; Phenotypes: MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA, Microphthalmia, syndromic 12, OMIM:615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB3GAP2 | Achchuthan Shanmugasundram reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16532399, 29419336; Phenotypes: MARTSOLF SYNDROME, OMIM:212720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB3GAP1 | Achchuthan Shanmugasundram reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15216543, 29675078, 10465117, 20512159, 15696165; Phenotypes: WARBURG MICRO SYNDROME TYPE 1, OMIM:600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB39B | Achchuthan Shanmugasundram reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20159109, 25434005, 11050621; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 72 (MRX72) +/- PARKINSONS, OMIM:300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAB18 | Achchuthan Shanmugasundram reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 29300443, 26063829, 21473985; Phenotypes: WARBURG MICRO SYNDROME TYPE 3, OMIM:614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | QARS | Achchuthan Shanmugasundram reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24656866; Phenotypes: MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYROXD1 | Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27745833; Phenotypes: Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PXDN | Achchuthan Shanmugasundram reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21907015; Phenotypes: CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTPN11 | Achchuthan Shanmugasundram reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19659470, 15520399, 21910226, 15384080, 24820750, 16733669, 12325025, 19864201, 22822385, 19768645, 19054014, 11992261, 23799168, 15240615, 27484170, 11704759, 24790373, 26377839, 25884655, 25917897, 17875892, 12529711, 12161469, 21365175, 19449407, 21747628, 21677813, 17927788; Phenotypes: LEOPARD SYNDROME TYPE 1, OMIM:151100, NOONAN SYNDROME 1, OMIM:163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTH1R | Achchuthan Shanmugasundram reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 9745456, 8703170, 15240651, 17164305, 3975110, 7701349, 10487664, 15525660, 10523019, 19061984, 9649554; Phenotypes: PRIMARY FAILURE OF TOOTH ERUPTION, OMIM:125350, CHONDRODYSPLASIA BLOMSTRAND TYPE, OMIM:215045, JANSEN METAPHYSEAL CHONDRODYSPLASIA, OMIM:156400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTH | Achchuthan Shanmugasundram reviewed gene: PTH: Rating: GREEN; Mode of pathogenicity: ; Publications: 3005800, 1302009, 10523031, 2212001; Phenotypes: FAMILIAL ISOLATED HYPOPARATHYROIDISM, OMIM:146200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTF1A | Achchuthan Shanmugasundram reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15543146, 21749365, 10507728, 24212882; Phenotypes: PANCREATIC AGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS, OMIM:609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTEN | Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9241266, 9467011, 17286265, 9259288, 11476841, 9425889, 9140396, 9832031, 10051160, 16704655, 12844284, 15805158, 12471211, 10353779, 10777358, 23160955, 11238682, 9832032; Phenotypes: PTEN Hamartoma Tumor Syndrome, PROTEUS SYNDROME, OMIM:176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PTDSS1 | Achchuthan Shanmugasundram reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35224839, 24241535; Phenotypes: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, OMIM:151050, Developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRPS1 | Achchuthan Shanmugasundram reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22246954, 17701896, 8498830, 6243137, 15240907, 7593598, 10503584, 171280, 17701900, 8968763, 2423135, 20021999; Phenotypes: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, OMIM:300661, DEAFNESS X-LINKED TYPE 1, OMIM:304500, CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, OMIM:311070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PROP1 | Achchuthan Shanmugasundram reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:262600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRMT7 | Achchuthan Shanmugasundram reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029; Phenotypes: Pseudohypoparathyroidism-like disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKD1 | Achchuthan Shanmugasundram reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Syndromic congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKAR1B | Achchuthan Shanmugasundram reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 33833410; Phenotypes: PRKAR1B-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKAR1A | Achchuthan Shanmugasundram reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22464252, 22464250, 21651393; Phenotypes: ACRODYSOSTOSIS, OMIM:101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRIM1 | Achchuthan Shanmugasundram reviewed gene: PRIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33060134; Phenotypes: PRIM1-related Primordial Dwarfism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDX3 | Achchuthan Shanmugasundram reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35766882; Phenotypes: PRDX3-associated cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM6 | Achchuthan Shanmugasundram reviewed gene: PRDM6: Rating: RED; Mode of pathogenicity: Other; Publications: 27181681; Phenotypes: Isolated Nonsyndromic Patent Ductus Arteriosus.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM13 | Achchuthan Shanmugasundram reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: 35390279; Phenotypes: PRDM13-related olivopentocerebellar hypoplasia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRDM12 | Achchuthan Shanmugasundram reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: ; Publications: 26005867; Phenotypes: HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII, OMIM:616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1R13L | Achchuthan Shanmugasundram reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32666529, 28069640; Phenotypes: PPP1R13L-related dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1CB | Achchuthan Shanmugasundram reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27264673; Phenotypes: Rasopathy with developmental delay, short stature and sparse slow-growing hair; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPIL1 | Achchuthan Shanmugasundram reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPA2 | Achchuthan Shanmugasundram reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27523598, 27523597, 34400813; Phenotypes: Sudden arrhythmic cardiac death after infectious or alcohol trigger; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POU1F1 | Achchuthan Shanmugasundram reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1509262, 12629113, 15928241, 2634610, 9626142, 1302000, 16968807, 8768831, 11297581, 1472057, 7670563; Phenotypes: POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:613038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMT2 | Achchuthan Shanmugasundram reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 19138766, 17878207, 16701995, 17634419, 17923109, 15894594; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2, OMIM:613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMT1 | Achchuthan Shanmugasundram reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053679, 19299310, 11320179, 17878207, 15037715, 14678799, 12369018, 31311558, 22549409, 16717220; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1, OMIM:236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMP | Achchuthan Shanmugasundram reviewed gene: POMP: Rating: RED; Mode of pathogenicity: Other; Publications: 20226437; Phenotypes: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, OMIM:601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMK | Achchuthan Shanmugasundram reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: ; Publications: 32907597, 31833209, 24556084, 24925318; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMGNT2 | Achchuthan Shanmugasundram reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22958903; Phenotypes: WALKER WARBERG SYNDROME, OMIM:614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMGNT1 | Achchuthan Shanmugasundram reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 12588800, 22419172, 17878207, 15236414, 11709191, 18195152, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3, OMIM:613157, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3), OMIM:253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLE | Achchuthan Shanmugasundram reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 30503519, 25948378, 35860951, 23230001; Phenotypes: IMAGe Syndrome with variable immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLD1 | Achchuthan Shanmugasundram reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23770608; Phenotypes: SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POC1A | Achchuthan Shanmugasundram reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26336158, 22840364, 22440536, 22840363; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PNPT1 | Achchuthan Shanmugasundram reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23084291; Phenotypes: RESPIRATORY CHAIN DISORDER, OMIM:614932, HEARING LOSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PMPCB | Achchuthan Shanmugasundram reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576218; Phenotypes: Neurodegeneration in Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLXND1 | Achchuthan Shanmugasundram reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35396997, 24254849, 26068067; Phenotypes: MOEBIUS SYNDROME, PLXND1-related cardiac malformation syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLP1 | Achchuthan Shanmugasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9056547, 8723686, 1384324, 11071483, 8786077, 7573159, 14452137, 8659540, 7574457, 8956049, 2773936, 1715570, 1605230, 7683951, 1720927, 8320699, 9489796, 17438221, 8696336, 2480601, 3827224, 1707231; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 1, OMIM:312080, SPASTIC PARAPLEGIA X-LINKED TYPE 2, OMIM:312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLEC | Achchuthan Shanmugasundram reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35579050; Phenotypes: Epidermolysis Bullosa Simplex and limb-girdle muscular dystrophy, OMIM:613723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCB4 | Achchuthan Shanmugasundram reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCB1 | Achchuthan Shanmugasundram reviewed gene: PLCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20833646; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, OMIM:613722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PITX1 | Achchuthan Shanmugasundram reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18950742, 22258522; Phenotypes: HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS, CONGENITAL CLUBFOOT, OMIM:119800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIK3CA | Achchuthan Shanmugasundram reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22658544, 22729224; Phenotypes: HEMIMEGALENCEPHALY PIK3CA, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIH1D3 | Achchuthan Shanmugasundram reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28041644, 28176794; Phenotypes: X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGQ | Achchuthan Shanmugasundram reviewed gene: PIGQ: Rating: RED; Mode of pathogenicity: ; Publications: 24463883; Phenotypes: SEVERE EARLY-ONSET EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIEZO2 | Achchuthan Shanmugasundram reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27974811, 27653382, 27912047, 24726473; Phenotypes: Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception, ARTHROGRYPOSIS, DISTAL, TYPE 3, OMIM:114300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PI4KA | Achchuthan Shanmugasundram reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 34415310, 34415322, 25855803; Phenotypes: PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHC1 | Achchuthan Shanmugasundram reviewed gene: PHC1: Rating: RED; Mode of pathogenicity: Other; Publications: 23418308; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDSS2 | Achchuthan Shanmugasundram reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186472; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 3, OMIM:614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDSS1 | Achchuthan Shanmugasundram reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17332895; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 2, OMIM:614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCYT2 | Achchuthan Shanmugasundram reviewed gene: PCYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32889549, 31637422; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCNT | Achchuthan Shanmugasundram reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: 18174396, 15372530, 19839044; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, OMIM:210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCGF2 | Achchuthan Shanmugasundram reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30526864; Phenotypes: Craniofacial Neurological Cardiovascular and Skeletal Features, INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PCDH19 | Achchuthan Shanmugasundram reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469813, 19752159, 5116697, 19214208; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PC | Achchuthan Shanmugasundram reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: 9585002, 9585612, 19306334, 12112657; Phenotypes: PYRUVATE CARBOXYLASE DEFICIENCY, OMIM:266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX3 | Achchuthan Shanmugasundram reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20478267, 8490648, 7726174, 8664898, 1347148, 35607853, 26443304, 12949970, 14556253, 1303193, 1308353, 8447316, 1887852; Phenotypes: Waardenburg syndrome type 3, WAARDENBURG SYNDROME, TYPE 1, OMIM:193500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PARP1 | Achchuthan Shanmugasundram reviewed gene: PARP1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PARN | Achchuthan Shanmugasundram reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25893599; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, OMIM:616353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | P4HB | Achchuthan Shanmugasundram reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25683117; Phenotypes: COLE-CARPENTER SYNDROME, OMIM:112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OXR1 | Achchuthan Shanmugasundram reviewed gene: OXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31785787; Phenotypes: Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTOGL | Achchuthan Shanmugasundram reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122586; Phenotypes: MODERATE SENSORINEURAL HEARING LOSS, OMIM:614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OTC | Achchuthan Shanmugasundram reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 1480464, 7860064, 2347583, 3170748, 2037279, 9056557, 2035531, 11260212, 10405441, 1721894, 1353535, 2843770; Phenotypes: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OMIM:311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OSGEP | Achchuthan Shanmugasundram reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: Nephrotic syndrome with primary microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OGDHL | Achchuthan Shanmugasundram reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 34800363; Phenotypes: OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NYX | Achchuthan Shanmugasundram reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062471, 11062472, 16670814; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A, OMIM:310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP54 | Achchuthan Shanmugasundram reviewed gene: NUP54: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333996; Phenotypes: NUP54-related early-onset dystonia with striatal lesions; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NR2F2 | Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24702954; Phenotypes: CONGENITAL HEART DEFECTS and XX sex reversal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NPR2 | Achchuthan Shanmugasundram reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15146390; Phenotypes: ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE, OMIM:602875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOTCH1 | Achchuthan Shanmugasundram reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25132448, 16025100; Phenotypes: LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION, OMIM:109730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKX2-5 | Achchuthan Shanmugasundram reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19948535, 16418214, 11714651, 20807224; Phenotypes: ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, OMIM:108900, TETRALOGY OF FALLOT, OMIM:187500, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5, OMIM:225250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NKAP | Achchuthan Shanmugasundram reviewed gene: NKAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31587868; Phenotypes: Marfanoid Habitus and Cognitive Impairment; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NFIX | Achchuthan Shanmugasundram reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: ; Publications: 22301465, 20673863, 29897170; Phenotypes: MARSHALL-SMITH SYNDROME, OMIM:602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NEDD4L | Achchuthan Shanmugasundram reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27694961, 23934111, 28515470; Phenotypes: Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFV2 | Achchuthan Shanmugasundram reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26008862, 33811136; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFB7 | Achchuthan Shanmugasundram reviewed gene: NDUFB7: Rating: RED; Mode of pathogenicity: ; Publications: 33502047; Phenotypes: NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFB11 | Achchuthan Shanmugasundram reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NDUFA6 | Achchuthan Shanmugasundram reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Early Onset Isolated Mitochondrial Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAXE | Achchuthan Shanmugasundram reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616477; Phenotypes: Lethal Neurometabolic Disorder of Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NARS2 | Achchuthan Shanmugasundram reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32020600, 25807530, 28716262, 28077841, 25385316, 30327238, 35703918, 34415467, 25629079; Phenotypes: NARS2-associated oxidative phosphorylation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NARS | Achchuthan Shanmugasundram reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32738225, 32788587; Phenotypes: NARS1 Neurodevelopmental Disorder (monoallelic), NARS1 Neurodevelopmental Disorder (biallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NALCN | Achchuthan Shanmugasundram reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683120, 24075186, 23749988; Phenotypes: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAGLU | Achchuthan Shanmugasundram reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: 11068184, 21937992, 12202988, 10094189, 8650226, 9832037; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3B, OMIM:252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NACC1 | Achchuthan Shanmugasundram reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28132692; Phenotypes: Infantile Epilepsy, Cataracts, and Profound Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAA15 | Achchuthan Shanmugasundram reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: ; Publications: 23665959, 29656860, 28191889; Phenotypes: CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYT1 | Achchuthan Shanmugasundram reviewed gene: MYT1: Rating: RED; Mode of pathogenicity: ; Publications: 27358179; Phenotypes: OAVS/Goldenhar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYSM1 | Achchuthan Shanmugasundram reviewed gene: MYSM1: Rating: RED; Mode of pathogenicity: ; Publications: 26220525, 32640305, 28115216, 33618624, 24288411; Phenotypes: MYSM1-related congenital bone marrow failure, OMIM:618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYRF | Achchuthan Shanmugasundram reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31069960, 29446546, 30532227, 30070761; Phenotypes: Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYOC | Achchuthan Shanmugasundram reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYLPF | Achchuthan Shanmugasundram reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32707087; Phenotypes: MYLPF arthrogryposis (monoallelic), MYLPF arthrogryposis (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH9 | Achchuthan Shanmugasundram reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10973259, 25077172; Phenotypes: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS, OMIM:155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH8 | Achchuthan Shanmugasundram reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: ; Publications: 28377322, 15282353; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, CARNEY COMPLEX VARIANT, OMIM:608837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYH3 | Achchuthan Shanmugasundram reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29805041, 18695058, 16642020; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700, Recessive Spondylocarpotarsal Synostosis Syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MYBPC1 | Achchuthan Shanmugasundram reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31264822, 31966463, 22610851, 26661508, 25679999, 20045868; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915, MYBPC1-related arthrogryposis and myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTO1 | Achchuthan Shanmugasundram reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22608499; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS, OMIM:614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTM1 | Achchuthan Shanmugasundram reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9285787, 8640223, 12707446, 7611280, 9450905, 12859411, 11552027, 10790201; Phenotypes: MYOTUBULAR MYOPATHY, X-LINKED, OMIM:310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MSX2 | Achchuthan Shanmugasundram reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14571277; Phenotypes: ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM, OMIM:168550, CRANIOSYNOSTOSIS, TYPE 2, OMIM:604757; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MRPS2 | Achchuthan Shanmugasundram reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576219; Phenotypes: Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MNX1 | Achchuthan Shanmugasundram reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15216552, 16906559, 10631160, 7550324, 9843207; Phenotypes: CURRARINO SYNDROME, OMIM:176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MLYCD | Achchuthan Shanmugasundram reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MALONYL-COA DECARBOXYLASE DEFICIENCY, OMIM:248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MKS1 | Achchuthan Shanmugasundram reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17377820, 16415886; Phenotypes: BARDET-BIEDL SYNDROME TYPE 13, OMIM:615990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MITF | Achchuthan Shanmugasundram reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 8490648, 9158138, 10851256, 7874167, 9856573, 8589691, 27889061; Phenotypes: TIETZ SYNDROME, OMIM:103500, WAARDENBURG SYNDROME TYPE 2A, OMIM:193510, Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MIR184 | Achchuthan Shanmugasundram reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: Other; Publications: 24138095, 23833072, 27195078, 25373792, 21996275; Phenotypes: EDICT SYNDROME, OMIM:614303, KERATOCONUS WITH CATARACT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MFSD2A | Achchuthan Shanmugasundram reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26005865; Phenotypes: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, OMIM:616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEGF8 | Achchuthan Shanmugasundram reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CARPENTER SYNDROME, OMIM:201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MEGF10 | Achchuthan Shanmugasundram reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 17236770, 22101682, 22371254; Phenotypes: MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, OMIM:614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MECOM | Achchuthan Shanmugasundram reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MDH2 | Achchuthan Shanmugasundram reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27989324; Phenotypes: Early-Onset Severe Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCPH1 | Achchuthan Shanmugasundram reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20978018, 7693575, 16311745, 12046007, 11857108; Phenotypes: MICROCEPHALY PRIMARY TYPE 1, OMIM:251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCCC2 | Achchuthan Shanmugasundram reviewed gene: MCCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OMIM:210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MCCC1 | Achchuthan Shanmugasundram reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY, OMIM:210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPK8IP3 | Achchuthan Shanmugasundram reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30612693; Phenotypes: Intellectual Disability with Variable Brain Anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP2K2 | Achchuthan Shanmugasundram reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAP2K1 | Achchuthan Shanmugasundram reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAGI2 | Achchuthan Shanmugasundram reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: ; Publications: 18565486; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAFB | Achchuthan Shanmugasundram reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27181683, 22387013; Phenotypes: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300, Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAF | Achchuthan Shanmugasundram reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11772997, 24664492, 16470690; Phenotypes: CATARACT 21, MULTIPLE TYPES, OMIM:610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRRC6 | Achchuthan Shanmugasundram reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122589; Phenotypes: PRIMARY CILIARY DYSKINESIA, OMIM:614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRRC56 | Achchuthan Shanmugasundram reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388400; Phenotypes: Mucociliary Clearance and Laterality Defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRP2 | Achchuthan Shanmugasundram reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 29388841, 23992033, 23033978, 19577669; Phenotypes: DONNAI-BARROW SYNDROME, OMIM:222448, INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRIT3 | Achchuthan Shanmugasundram reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23246293; Phenotypes: AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS, OMIM:615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMNB2 | Achchuthan Shanmugasundram reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33033404; Phenotypes: LMNB2-related Primary Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LMNA | Achchuthan Shanmugasundram reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655060, 10587585; Phenotypes: EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588, HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIPT1 | Achchuthan Shanmugasundram reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27247813, 24341803, 24256811; Phenotypes: Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LIPN | Achchuthan Shanmugasundram reviewed gene: LIPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21439540; Phenotypes: ICHTHYOSIS, LAMELLAR, 4, OMIM:613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LHX4 | Achchuthan Shanmugasundram reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:290135; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LHX3 | Achchuthan Shanmugasundram reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18407919, 10835633, 17327381; Phenotypes: PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3, OMIM:221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LGI4 | Achchuthan Shanmugasundram reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28318499; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LEMD2 | Achchuthan Shanmugasundram reviewed gene: LEMD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30905398; Phenotypes: Nuclear Envelopathy with Early Progeroid Appearance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LDB3 | Achchuthan Shanmugasundram reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LARS2 | Achchuthan Shanmugasundram reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541342; Phenotypes: PERRAULT SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LARP7 | Achchuthan Shanmugasundram reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 26374271, 26607181; Phenotypes: ALAZAMI SYNDROME, OMIM:615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LARGE1 | Achchuthan Shanmugasundram reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436019, 19299310, 12966029, 21248746, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH INTELLECTUAL DEVELOPMENTAL DISORDER TYPE B6, OMIM:608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMB1 | Achchuthan Shanmugasundram reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES, OMIM:615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMA2 | Achchuthan Shanmugasundram reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12601554, 11591858, 18700894, 9158149, 7550355, 11071490, 16216942, 12552556; Phenotypes: CONGENITAL MUSCULAR DYSTROPHY, OMIM:607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAMA1 | Achchuthan Shanmugasundram reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 25105227; Phenotypes: CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY, OMIM:615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | L2HGDH | Achchuthan Shanmugasundram reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 15385440, 19911013; Phenotypes: L-2-HYDROXYGLUTARIC ACIDURIA, OMIM:236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KRAS | Achchuthan Shanmugasundram reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16773572, 16474405, 19396835; Phenotypes: NOONAN SYNDROME TYPE 3, OMIM:609942, CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KMT2B | Achchuthan Shanmugasundram reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839873, 27992417; Phenotypes: Complex early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KLHL7 | Achchuthan Shanmugasundram reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29074562, 27392078; Phenotypes: Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KITLG | Achchuthan Shanmugasundram reviewed gene: KITLG: Rating: RED; Mode of pathogenicity: Other; Publications: 26522471; Phenotypes: WAARDENBURG SYNDROME TYPE 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIF1A | Achchuthan Shanmugasundram reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25253658, 25265257, 26125038, 26486474, 21820098, 30385166, 21376300, 32096284, 26354034; Phenotypes: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OMIM:614213, NESCAV SYNDROME, OMIM:614255; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIDINS220 | Achchuthan Shanmugasundram reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: 27005418, 28934391, 32909676; Phenotypes: KIDINS220-related Developmental Disorder, biallelic, Spastic paraplegia, intellectual disability, nystagmus, and obesity., OMIM:617296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM5C | Achchuthan Shanmugasundram reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203167, 15586325, 19826449, 18697827, 21575681, 16538222; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED JARID1C-RELATED, OMIM:300534; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCTD1 | Achchuthan Shanmugasundram reviewed gene: KCTD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541344; Phenotypes: SCALP-EAR-NIPPLE SYNDROME, OMIM:181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNT1 | Achchuthan Shanmugasundram reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23086397, 23086396; Phenotypes: MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY, SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNQ2 | Achchuthan Shanmugasundram reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25880994, 28832002, 27602407, 15249611, 28687180, 22926866, 25566516, 17872363, 27861786, 28728838, 25092550, 9430594, 23774309, 30107960, 11175290, 24107868, 11572947, 28631195, 31199083, 10323247, 23692823, 23621294, 31152295, 29687029, 31951342, 9425895, 16235065, 24371303, 22169383, 31418850, 30530441, 22275249, 12742592; Phenotypes: BENIGN NEONATAL EPILEPSY TYPE 1, OMIM:121200, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7, OMIM:613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNMA1 | Achchuthan Shanmugasundram reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34224328, 31152168, 27567911, 15937479, 33178487, 29545233, 32132200, 29330545; Phenotypes: KCNMA1-related developmental delay, seizures and cerebellar atrophy, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, OMIM:609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNK9 | Achchuthan Shanmugasundram reviewed gene: KCNK9: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: BIRK-BAREL SYNDROME, OMIM:612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNH1 | Achchuthan Shanmugasundram reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25420144; Phenotypes: TEMPLE BARRAISTER SYNDROME, OMIM:611816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNC3 | Achchuthan Shanmugasundram reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA TYPE 13, OMIM:605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNB1 | Achchuthan Shanmugasundram reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25164438; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, OMIM:616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNA4 | Achchuthan Shanmugasundram reviewed gene: KCNA4: Rating: RED; Mode of pathogenicity: Other; Publications: 27582084; Phenotypes: KCN4 related abnormal striatum, congenital cataract and intellectual disability.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KAT6B | Achchuthan Shanmugasundram reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24458743, 29226580, 31871732, 30353918, 26370006, 28426343, 26334766, 28758091, 25424711, 23436491, 30569622, 22265017, 27696664, 30900427, 22077973, 22265014, 28696035, 28232779; Phenotypes: GENITOPATELLAR SYNDROME, OMIM:606170, SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME, OMIM:603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KARS | Achchuthan Shanmugasundram reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 20920668, 23768514; Phenotypes: DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916, KARS1-related leukoencephalopathy with or without deafness, OMIM:619147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JARID2 | Achchuthan Shanmugasundram reviewed gene: JARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33077894, 35533077; Phenotypes: JARID2-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAM3 | Achchuthan Shanmugasundram reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | JAG2 | Achchuthan Shanmugasundram reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33861953; Phenotypes: JAG2-related muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITPR1 | Achchuthan Shanmugasundram reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27062503, 22986007, 27108798, 27108797; Phenotypes: Gillespie Syndrome, OMIM:206700, Gillespie Syndrome, monoallelic, OMIM:206700, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ITGA7 | Achchuthan Shanmugasundram reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590299; Phenotypes: CONGENITAL MUSCULAR DYSTROPHY, OMIM:607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ISPD | Achchuthan Shanmugasundram reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 22522420, 7604843, 22522421, 9492098, 23217329; Phenotypes: WALKER WARBURG SYNDROME, OMIM:614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | INPP5K | Achchuthan Shanmugasundram reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28190459, 28190456, 28940338; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGSF1 | Achchuthan Shanmugasundram reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143598; Phenotypes: CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT, OMIM:300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGHMBP2 | Achchuthan Shanmugasundram reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15290238, 11528396; Phenotypes: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1, OMIM:604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGFBP7 | Achchuthan Shanmugasundram reviewed gene: IGFBP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 12441727; Phenotypes: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, OMIM:614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGBP1 | Achchuthan Shanmugasundram reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: Other; Publications: 23871722; Phenotypes: AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFIH1 | Achchuthan Shanmugasundram reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24995871, 25620204; Phenotypes: AICARDI-GOUTIERES SYNDROME 7, OMIM:615846, SINGLETON-MERTEN SYNDROME, OMIM:182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IDUA | Achchuthan Shanmugasundram reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8328452, 7951228, 10466419, 4221470, 10735634, 6821579, 7550232, 9391892, 8664897; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 1S, OMIM:607016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IDS | Achchuthan Shanmugasundram reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1284597, 1303211, 1550586, 7581397, 8364592, 1355630, 8940265, 12794697, 1639384; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 2, OMIM:309900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IARS2 | Achchuthan Shanmugasundram reviewed gene: IARS2: Rating: RED; Mode of pathogenicity: ; Publications: 25130867, 28328135; Phenotypes: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, OMIM:616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IARS | Achchuthan Shanmugasundram reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27426735; Phenotypes: Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYDIN | Achchuthan Shanmugasundram reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 23022101, 14985390; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 5, OMIM:608647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYAL2 | Achchuthan Shanmugasundram reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28081210, 34906488; Phenotypes: HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HYAL1 | Achchuthan Shanmugasundram reviewed gene: HYAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8793927; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 9, OMIM:601492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HTRA2 | Achchuthan Shanmugasundram reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: 27696117; Phenotypes: Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HSF4 | Achchuthan Shanmugasundram reviewed gene: HSF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16876512, 12089525, 29243736, 24637349; Phenotypes: CATARACT 5, MULTIPLE TYPES, OMIM:116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HR | Achchuthan Shanmugasundram reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: ; Publications: 19897589, 17680008, 9856480, 9758627, 9445480, 10051399, 10777357, 10205263, 10469319, 12271294, 9463324; Phenotypes: ATRICHIA WITH PAPULAR LESIONS, OMIM:209500, ALOPECIA UNIVERSALIS, OMIM:146550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HPGD | Achchuthan Shanmugasundram reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CRANIOOSTEOARTHROPATHY, OMIM:259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXB1 | Achchuthan Shanmugasundram reviewed gene: HOXB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22770981; Phenotypes: FACIAL PARESIS, HEREDITARY CONGENITAL, 3, OMIM:614744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXA11 | Achchuthan Shanmugasundram reviewed gene: HOXA11: Rating: RED; Mode of pathogenicity: ; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HNRNPA2B1 | Achchuthan Shanmugasundram reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35484142; Phenotypes: Early-onset oculopharyngeal muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMX1 | Achchuthan Shanmugasundram reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423520, 25574057, 29140751; Phenotypes: OCULOAURICULAR SYNDROME, OMIM:612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGCS2 | Achchuthan Shanmugasundram reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9337379, 12647205, 11228257, 9727719, 11479731; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY, OMIM:605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HMGCL | Achchuthan Shanmugasundram reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11129331, 9463337, 8617516; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY, OMIM:246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HLCS | Achchuthan Shanmugasundram reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, OMIM:253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HGSNAT | Achchuthan Shanmugasundram reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 18518886, 16960811, 20825431, 17033958, 18024218; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3C, OMIM:252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HESX1 | Achchuthan Shanmugasundram reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:319358, SEPTOOPTIC DYSPLASIA, OMIM:182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HERC1 | Achchuthan Shanmugasundram reviewed gene: HERC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28323226, 27108999, 26153217, 26138117; Phenotypes: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HCN1 | Achchuthan Shanmugasundram reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24747641; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, OMIM:615871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HARS | Achchuthan Shanmugasundram reviewed gene: HARS: Rating: RED; Mode of pathogenicity: Other; Publications: 22279524; Phenotypes: USHER SYNDROME, OMIM:614504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GUSB | Achchuthan Shanmugasundram reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7633414, 6811712, 12522561, 9490302, 1702266, 7573038, 1833732, 4265197; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 7, OMIM:253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GUCY2C | Achchuthan Shanmugasundram reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 22436048; Phenotypes: FAMILIAL DIARRHEA DIARRHEA 6, OMIM:614616, MECONIUM ILEUS, OMIM:614665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GTPBP3 | Achchuthan Shanmugasundram reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434004; Phenotypes: MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRM6 | Achchuthan Shanmugasundram reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16249515, 15781871, 17405131; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, OMIM:257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRM1 | Achchuthan Shanmugasundram reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22901947; Phenotypes: CONGENITAL CEREBELLAR ATAXIA, OMIM:614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRID2 | Achchuthan Shanmugasundram reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31183084, 25841024, 24078737, 23611888, 28856174; Phenotypes: GRID2-related cerebellar ataxia, biallelic, GRID2-related cerebellar ataxia, monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GPAA1 | Achchuthan Shanmugasundram reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100095; Phenotypes: Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia, OMIM:617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GOT2 | Achchuthan Shanmugasundram reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31422819; Phenotypes: Malate-Aspartate Shuttle-Related Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNS | Achchuthan Shanmugasundram reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19650410, 12624138, 17998446, 6450420, 3100754; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3D, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB5 | Achchuthan Shanmugasundram reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523599; Phenotypes: Sinus Bradycardia and Cognitive Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNB3 | Achchuthan Shanmugasundram reviewed gene: GNB3: Rating: RED; Mode of pathogenicity: ; Publications: 27063057; Phenotypes: GNB3 Autosomal-Recessive Congenital Stationary Night Blindness.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAS | Achchuthan Shanmugasundram reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1944469, 18182455, 1505964, 11095461, 10487696, 17299070, 2122458, 15592469, 9328353, 8702665, 11029463, 11073544, 15126527, 8072545, 1594625; Phenotypes: ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580, MCCUNE-ALBRIGHT SYNDROME, OMIM:174800, PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAI3 | Achchuthan Shanmugasundram reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11102934; Phenotypes: AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNA14 | Achchuthan Shanmugasundram reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476652; Phenotypes: Congenital vascular tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GMPPB | Achchuthan Shanmugasundram reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23768512; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OMIM:615350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GMPPA | Achchuthan Shanmugasundram reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24035193, 35665995; Phenotypes: GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GMNN | Achchuthan Shanmugasundram reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637980; Phenotypes: Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLE1 | Achchuthan Shanmugasundram reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18204449; Phenotypes: ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, OMIM:611890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GLDN | Achchuthan Shanmugasundram reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616481; Phenotypes: Lethal arthroogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJC2 | Achchuthan Shanmugasundram reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20537300, 8733901, 18094336, 16969684, 15192806, 19056803; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804, LYMPHEDEMA, HEREDITARY, IC, OMIM:613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJB3 | Achchuthan Shanmugasundram reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200, DEAFNESS, AUTOSOMAL RECESSIVE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA8 | Achchuthan Shanmugasundram reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16604058, 18006672, 14627691, 9497259, 10480374, 11846744; Phenotypes: CATARACT-MICROCORNEA SYNDROME, OMIM:116150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA3 | Achchuthan Shanmugasundram reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15448617, 21681855, 22312188, 10746562, 22550389, 22876138, 10205266; Phenotypes: CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, OMIM:601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJA1 | Achchuthan Shanmugasundram reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15108203, 2157843, 16816024, 14974090, 4209752, 2309863, 12457340, 15551259, 7815444, 21670345, 16709485, 17256797, 14981729, 11470490; Phenotypes: HALLERMANN-STREIFF SYNDROME, OMIM:234100, SYNDACTYLY TYPE 3, OMIM:186100, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200, HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GHR | Achchuthan Shanmugasundram reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 11468686, 15001620, 8626815, 12679461, 15536163, 2779634, 9661642, 8488849, 2813379, 17405847, 9851797, 9360529, 9467570, 2233903; Phenotypes: PITUITARY DWARFISM II, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GFER | Achchuthan Shanmugasundram reviewed gene: GFER: Rating: RED; Mode of pathogenicity: ; Publications: 19409522; Phenotypes: MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD, OMIM:613076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GEMIN5 | Achchuthan Shanmugasundram reviewed gene: GEMIN5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33963192; Phenotypes: GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GEMIN4 | Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30237576, 35861185, 27878435, 25558065; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GDF1 | Achchuthan Shanmugasundram reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144877, 17924340, 20413652, 28991257, 33131162; Phenotypes: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6, OMIM:613854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GCDH | Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11174631, 8900228, 10699052, 7795610, 8900227; Phenotypes: GLUTARICACIDEMIA TYPE 1, OMIM:231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GBA2 | Achchuthan Shanmugasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23332917; Phenotypes: AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATM | Achchuthan Shanmugasundram reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 10762163; Phenotypes: ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY, OMIM:612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA6 | Achchuthan Shanmugasundram reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631719, 20581743, 8071961, 22158542; Phenotypes: PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS, OMIM:600001, ATRIOVENTRICULAR SEPTAL DEFECT 5, OMIM:614474, ATRIAL SEPTAL DEFECT 9, OMIM:614475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GATA3 | Achchuthan Shanmugasundram reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25510779, 15830275, 30396722, 29026277, 26268891, 23291697, 26316437, 21834031, 27387476, 19723756, 23203342, 29593425, 29073906, 29025137, 25771973, 21242646, 21157112, 21120445, 11389161, 23186964, 23052618, 16509533, 25124981, 31885872, 19952462, 26777049, 19248180, 24434941, 15705923, 26514990, 26800885, 28566604, 19253381, 30534854, 10935639, 21399899, 28303854, 17309062; Phenotypes: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAS8 | Achchuthan Shanmugasundram reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387594; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GAS2L2 | Achchuthan Shanmugasundram reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30665704; Phenotypes: Impaired Cilia Orientation and Mucociliary Clearance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GALNS | Achchuthan Shanmugasundram reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 4A, OMIM:253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FYCO1 | Achchuthan Shanmugasundram reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21636066, 11519376; Phenotypes: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2, OMIM:610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTO | Achchuthan Shanmugasundram reviewed gene: FTO: Rating: RED; Mode of pathogenicity: Other; Publications: 19559399; Phenotypes: GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH, OMIM:612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FTL | Achchuthan Shanmugasundram reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11849230, 9414313, 9414300, 19176363, 7493028, 9226182, 7669675, 12200611, 9292547, 10759702; Phenotypes: HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME, OMIM:600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXL2 | Achchuthan Shanmugasundram reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12400065, 12938087, 11175783, 17089161, 12630957, 11468277, 11776388, 12567411, 12529855, 21325395; Phenotypes: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME, OMIM:110100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXG1 | Achchuthan Shanmugasundram reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18571142, 21441262, 19564653, 19578037; Phenotypes: CONGENITAL VARIANT OF RETT SYNDROME, OMIM:613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXF1 | Achchuthan Shanmugasundram reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXE3 | Achchuthan Shanmugasundram reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29136273, 20361012, 20140963, 6801987, 22204637, 3550563, 11159941, 16826526; Phenotypes: CONGENITAL PRIMARY APHAKIA, OMIM:610256, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, OMIM:107250; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FOXE1 | Achchuthan Shanmugasundram reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: BAMFORTH-LAZARUS SYNDROME, OMIM:241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FMR1 | Achchuthan Shanmugasundram reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623, PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360, FRAGILE X SYNDROME, OMIM:300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLT4 | Achchuthan Shanmugasundram reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33067626, 10835628, 12960217, 16924388, 19289394, 16965327, 10856194; Phenotypes: CONGENITAL HEART DISEASE, MILROY DISEASE, OMIM:153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLNB | Achchuthan Shanmugasundram reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18257094, 16801345, 14991055, 18386804; Phenotypes: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, OMIM:272460, ATELOSTEOGENESIS TYPE 1, OMIM:108720, AUTOSOMAL DOMINANT LARSEN SYNDROME, OMIM:150250, ATELOSTEOGENESIS TYPE 3, OMIM:108721; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLNA | Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23934111, 16596676, 8644737, 20301567, 11914408, 16299064, 11532987, 8290091, 9883725, 28498505, 10982965, 23032111, 17632775, 17431908, 23037936, 18854860, 15654694, 14988809, 15940695, 12612583, 20014127; Phenotypes: X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, OMIM:300048, MELNICK-NEEDLES SYNDROME, OMIM:309350, Otopalatodigital Syndrome, PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1, OMIM:300049, TERMINAL OSSEOUS DYSPLASIA, OMIM:300244, FRONTOMETAPHYSEAL DYSPLASIA, OMIM:305620, EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FLG | Achchuthan Shanmugasundram reviewed gene: FLG: Rating: RED; Mode of pathogenicity: ; Publications: 17291859, 16444271; Phenotypes: ICHTHYOSIS VULGARIS, OMIM:146700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKTN | Achchuthan Shanmugasundram reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21228398, 17044012, 17878207, 19179078, 12601708, 9690476, 17036286, 10545611, 19342235, 14627679; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4, OMIM:611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKRP | Achchuthan Shanmugasundram reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053680, 12654965, 15121789, 11592034, 14523375, 17336067, 11741828, 14647208, 14652796, 11071142, 12707439; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5, OMIM:613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FKBP14 | Achchuthan Shanmugasundram reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OMIM:614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FIG4 | Achchuthan Shanmugasundram reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17572665, 23623387, 7496176, 34899148, 30740813, 2319578; Phenotypes: CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME, OMIM:216340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FHL1 | Achchuthan Shanmugasundram reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607917, 19716112, 19687455, 18179888; Phenotypes: EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, OMIM:300696; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FH | Achchuthan Shanmugasundram reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: 8200987, 22069215; Phenotypes: FUMARASE DEFICIENCY, OMIM:606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGFR3 | Achchuthan Shanmugasundram reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28483234, 8845844, 7493034, 7913883, 17033969, 16912704, 16501574, 7758520, 11055896, 19449430, 9452043, 7670477, 7773297, 10215410, 7647778, 16411219, 8078586, 8589686, 27139183; Phenotypes: THANATOPHORIC DYSPLASIA TYPE 2, OMIM:187601, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, OMIM:610474, MUENKE SYNDROME, OMIM:602849, HYPOCHONDROPLASIA, OMIM:146000, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OMIM:612247, THANATOPHORIC DYSPLASIA TYPE 1, OMIM:187600, ACHONDROPLASIA, OMIM:100800, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGFR2 | Achchuthan Shanmugasundram reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7719344, 9677057, 7987400, 7874170, 9973282, 8696350, 19610084, 15523492, 22038757, 7607643, 8528214, 7581378, 7655462, 17621648, 9002682, 9152842; Phenotypes: APERT SYNDROME, OMIM:101200, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, JACKSON-WEISS SYNDROME, OMIM:123150, ANTLEY-BIXLER SYNDROME, OMIM:207410, CROUZON SYNDROME, OMIM:123500, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGFR1 | Achchuthan Shanmugasundram reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11807866, 15523615, 10394936, 7874169, 15625620, 26942290, 10690855, 7719345, 17235395, 8434615, 7422392, 16606836, 8841188, 23643382, 16882753, 17360555, 18596921, 23812909, 9150725, 16418210, 9002682, 12627230, 10945669, 9586546; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Encephalocraniocutaneous lipomatosis, OMIM:613001, PFEIFFER SYNDROME, OMIM:101600, OSTEOGLOPHONIC DYSPLASIA, OMIM:166250, Hartsfield syndrome, OMIM:615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGD1 | Achchuthan Shanmugasundram reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11093277, 14560308, 16688726, 20082460, 16353258, 7954831, 17152066, 17847065, 10930571, 15809997, 11940089; Phenotypes: AARSKOG-SCOTT SYNDROME, OMIM:305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXO11 | Achchuthan Shanmugasundram reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: ; Publications: 27620904, 30057029, 30679813; Phenotypes: Variable Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBN2 | Achchuthan Shanmugasundram reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9737771, 11281275, 20799338, 9106527, 9199560, 8900230, 10797416; Phenotypes: CONGENITAL CONTRACTURAL ARACHNODACTYLY, OMIM:121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBN1 | Achchuthan Shanmugasundram reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1852208, 1631074, 31950671, 17366579, 9241263, 7611299, 1569206, 1301946, 9101298, 11175294, 9837823, 15032979, 17492313, 7762551, 23103230, 23897642, 21594992, 8136837, 7633409, 15287423, 12525539, 8504310, 20979188, 10766875, 16333834, 8281141, 23023332, 11702223, 17568394, 20082464, 27582083, 8101042, 8071963, 7911051, 8040326, 21594993, 10441597, 18412115, 8428751, 8406497, 8430317; Phenotypes: WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, MARFAN SYNDROME, OMIM:154700, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212, Marfan Syndrome, biallelic, OMIM:154700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBLN1 | Achchuthan Shanmugasundram reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, OMIM:608180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FARS2 | Achchuthan Shanmugasundram reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29326872, 27549011, 29126765, 28043061, 27095821; Phenotypes: Neurometabolic disorder due to FARS2 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAR1 | Achchuthan Shanmugasundram reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25439727; Phenotypes: SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAM58A | Achchuthan Shanmugasundram reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18297069, 28322501, 8818947; Phenotypes: STAR SYNDROME, OMIM:300707; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXT1 | Achchuthan Shanmugasundram reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326317, 7550340, 8981950, 15253765; Phenotypes: HEREDITARY MULTIPLE EXOSTOSES TYPE 1, OMIM:133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXOSC9 | Achchuthan Shanmugasundram reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727687; Phenotypes: Cerebellar Atrophy with Spinal Motor Neuronopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXOSC3 | Achchuthan Shanmugasundram reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EXOSC2 | Achchuthan Shanmugasundram reviewed gene: EXOSC2: Rating: RED; Mode of pathogenicity: ; Publications: 36069504, 26843489; Phenotypes: EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETFDH | Achchuthan Shanmugasundram reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUTARIC ACIDURIA TYPE 2C, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETFB | Achchuthan Shanmugasundram reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUTARIC ACIDURIA TYPE 2B, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ETFA | Achchuthan Shanmugasundram reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17412732, 7912128, 12815589, 1882842, 1430199, 19249206; Phenotypes: GLUTARIC ACIDURIA TYPE 2A, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERMARD | Achchuthan Shanmugasundram reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: ; Publications: 24056535; Phenotypes: PERIVENTRICULAR HETEROTOPIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERF | Achchuthan Shanmugasundram reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354439, 35852485, 27738187; Phenotypes: COMPLEX CRANIOSYNOSTOSIS, Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ERCC6L2 | Achchuthan Shanmugasundram reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24507776; Phenotypes: BONE MARROW FAILURE SYNDROME 2, OMIM:615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPHB4 | Achchuthan Shanmugasundram reviewed gene: EPHB4: Rating: RED; Mode of pathogenicity: ; Publications: 28687708, 29444212; Phenotypes: Capillary malformation-arteriovenous malformation 2, OMIM:618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPG5 | Achchuthan Shanmugasundram reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222957, 3344762; Phenotypes: IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM, OMIM:242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EPCAM | Achchuthan Shanmugasundram reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 21315192, 24048167, 24142340, 18572020, 20034091, 26684320, 27875355, 19820410; Phenotypes: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ENPP1 | Achchuthan Shanmugasundram reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137773, 12881724, 15940697, 20137772, 11159191, 19206175, 22209248, 15605415; Phenotypes: Generalized Arterial Calcification of Infancy and Hypophosphataemic Rickets, OMIM:208000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EMC1 | Achchuthan Shanmugasundram reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29271071, 26942288; Phenotypes: Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic, Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELMO2 | Achchuthan Shanmugasundram reviewed gene: ELMO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476657; Phenotypes: Intraosseous Vascular Malformation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ELAC2 | Achchuthan Shanmugasundram reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849775, 27769300; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDN1 | Achchuthan Shanmugasundram reviewed gene: EDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268655; Phenotypes: QUESTION MARK EARS, ISOLATED, OMIM:612798, AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | EDAR | Achchuthan Shanmugasundram reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 10431241, 16435307, 20979233; Phenotypes: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ECEL1 | Achchuthan Shanmugasundram reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261301; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 5D, OMIM:615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DYNC1H1 | Achchuthan Shanmugasundram reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28193117, 27066557, 28554554, 27331017, 30122514, 22459677, 25609763, 25484024, 29306600, 24307404, 22368300; Phenotypes: SEVERE ID WITH NEURONAL MIGRATION DISORDER, OMIM:600112, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD, OMIM:158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DSTYK | Achchuthan Shanmugasundram reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: 23862974, 28157540; Phenotypes: Autosomal Recessive Complicated Spastic Paraparesis SPG23, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, OMIM:610805; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DRC1 | Achchuthan Shanmugasundram reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354437; Phenotypes: PRIMARY CILARY DYSKINESIA, OMIM:244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DPAGT1 | Achchuthan Shanmugasundram reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22742743; Phenotypes: DPAGT1-CDG, OMIM:300129, MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2, OMIM:614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOCK7 | Achchuthan Shanmugasundram reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24814191; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, OMIM:615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNMT3A | Achchuthan Shanmugasundram reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24614070, 29900417, 28475857; Phenotypes: Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), Microcephalic primordial dwarfism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAJB4 | Achchuthan Shanmugasundram reviewed gene: DNAJB4: Rating: RED; Mode of pathogenicity: ; Publications: 36264506; Phenotypes: DNAJB4-related myopathy with early respiratory failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAJB13 | Achchuthan Shanmugasundram reviewed gene: DNAJB13: Rating: RED; Mode of pathogenicity: ; Publications: 27486783; Phenotypes: Primary Ciliary Dyskinesia and Male Infertility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAH5 | Achchuthan Shanmugasundram reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27637300; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 3, OMIM:608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAAF5 | Achchuthan Shanmugasundram reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23040496; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 18, OMIM:614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAAF4 | Achchuthan Shanmugasundram reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23872636; Phenotypes: PRIMARY CILIARY DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNAAF3 | Achchuthan Shanmugasundram reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22387996, 10745040; Phenotypes: PRIMARY CILIARY DYSKINEASIA, OMIM:606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DNA2 | Achchuthan Shanmugasundram reviewed gene: DNA2: Rating: RED; Mode of pathogenicity: ; Publications: 24389050; Phenotypes: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DMP1 | Achchuthan Shanmugasundram reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033621, 17033625; Phenotypes: HYPOPHOSPHATEMIC RICKETS, AR, OMIM:241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DMD | Achchuthan Shanmugasundram reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: 15643612, 7581396, 10909857, 7881286, 7981590, 17024373, 8361506, 8279470, 1513469, 1757094, 8199594, 8281150, 8301652, 12673664, 8401539, 12754707, 12632325, 8499922, 1301174, 12794683, 8817332, 1549596, 12522557, 1383546, 8401582, 1601417, 8364587, 2071150, 8789442, 1632439, 9683584, 9410897, 8401537, 7951253, 9170407, 1307253; Phenotypes: DUCHENNE MUSCULAR DYSTROPHY, OMIM:310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DGAT1 | Achchuthan Shanmugasundram reviewed gene: DGAT1: Rating: RED; Mode of pathogenicity: ; Publications: 23114594; Phenotypes: CONGENITAL DIARRHEAL DISORDERS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DEPDC5 | Achchuthan Shanmugasundram reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 10577924, 23542701, 14510823, 9851433, 15329069, 10825362; Phenotypes: FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI, OMIM:604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX11 | Achchuthan Shanmugasundram reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137776, 23033317; Phenotypes: WARSAW BREAKAGE SYNDROME, OMIM:613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDHD2 | Achchuthan Shanmugasundram reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176823; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDHD1 | Achchuthan Shanmugasundram reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176821, 15786464; Phenotypes: HEREDITARY SPASTIC PARAPLEGIA, OMIM:615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDC | Achchuthan Shanmugasundram reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20505134; Phenotypes: AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY, OMIM:608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DCHS1 | Achchuthan Shanmugasundram reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24056717; Phenotypes: PERIVENTRICULAR NEURONAL HETEROTOPIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DARS2 | Achchuthan Shanmugasundram reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17384640; Phenotypes: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, OMIM:611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DARS | Achchuthan Shanmugasundram reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23643384; Phenotypes: HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY., OMIM:615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DAG1 | Achchuthan Shanmugasundram reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21388311; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7, OMIM:613818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DACT1 | Achchuthan Shanmugasundram reviewed gene: DACT1: Rating: RED; Mode of pathogenicity: Other; Publications: 22610794, 36066768, 28054444; Phenotypes: Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | D2HGDH | Achchuthan Shanmugasundram reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: 15609246; Phenotypes: D-2-HYDROXYGLUTARIC ACIDURIA 1, OMIM:600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP2U1 | Achchuthan Shanmugasundram reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176821; Phenotypes: HEREDITARY SPASTIC PARAPLEGIA, OMIM:615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP24A1 | Achchuthan Shanmugasundram reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 27394135; Phenotypes: Hereditary 1,25-dihydroxyvitamin D-resistant rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYP1B1 | Achchuthan Shanmugasundram reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9463332, 19643970, 15342693, 19807744, 9497261, 10227395, 9097971, 27777502, 12372064; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYFIP2 | Achchuthan Shanmugasundram reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29534297, 31689829, 30664714, 29667327; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CYC1 | Achchuthan Shanmugasundram reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23910460; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OMIM:615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTNND1 | Achchuthan Shanmugasundram reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32196547, 29348693, 28301459; Phenotypes: Blepharo-cheiro-dontic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CTDP1 | Achchuthan Shanmugasundram reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14517542; Phenotypes: CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME, OMIM:604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CSNK1G1 | Achchuthan Shanmugasundram reviewed gene: CSNK1G1: Rating: RED; Mode of pathogenicity: Other; Publications: 24463883; Phenotypes: EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYGD | Achchuthan Shanmugasundram reviewed gene: CRYGD: Rating: RED; Mode of pathogenicity: ; Publications: 9927684, 17564961, 12011157, 10915766, 10521291; Phenotypes: Cataract 2, multiple types, OMIM:115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYGC | Achchuthan Shanmugasundram reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521291, 10914683, 12011157; Phenotypes: Cataract 2, multiple types, OMIM:604219; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB3 | Achchuthan Shanmugasundram reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15914629; Phenotypes: CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2, OMIM:609741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB2 | Achchuthan Shanmugasundram reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8812489, 11424921; Phenotypes: CATARACT, CONGENITAL, CERULEAN TYPE, 2, OMIM:601547, CATARACT, COPPOCK-LIKE, OMIM:604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBB1 | Achchuthan Shanmugasundram reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17460281, 12360425; Phenotypes: CATARACT 17, MULTIPLE TYPES, OMIM:611544, CATARACT 17, MULTIPLE TYPES, MONOALLELIC, OMIM:611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBA4 | Achchuthan Shanmugasundram reviewed gene: CRYBA4: Rating: RED; Mode of pathogenicity: Other; Publications: 16960806, 15452067, 20577656; Phenotypes: MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYBA1 | Achchuthan Shanmugasundram reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14598164; Phenotypes: CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES, OMIM:600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYAB | Achchuthan Shanmugasundram reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: 11577372, 21337604; Phenotypes: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED, OMIM:613869, CATARACT POSTERIOR POLAR TYPE 2, OMIM:613763; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRYAA | Achchuthan Shanmugasundram reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 11006246, 19182255; Phenotypes: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1, OMIM:604219, CATARACT, NUCLEAR, OMIM:123580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRADD | Achchuthan Shanmugasundram reviewed gene: CRADD: Rating: RED; Mode of pathogenicity: Other; Publications: 27773430, 22279524; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CPS1 | Achchuthan Shanmugasundram reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9711878, 19793055, 11474210, 8486760, 17310273; Phenotypes: CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, OMIM:237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COX7B | Achchuthan Shanmugasundram reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 9747372, 23122588; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN LESIONS, OMIM:300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COQ4 | Achchuthan Shanmugasundram reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25658047; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 7, OMIM:616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COPB1 | Achchuthan Shanmugasundram reviewed gene: COPB1: Rating: RED; Mode of pathogenicity: Other; Publications: 33632302; Phenotypes: COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL6A3 | Achchuthan Shanmugasundram reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992252; Phenotypes: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OMIM:254090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL6A2 | Achchuthan Shanmugasundram reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34167565, 15563506, 20106987, 11381124, 16075202, 19564581, 12218063; Phenotypes: COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090, COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL2A1 | Achchuthan Shanmugasundram reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14729840, 2339128, 3195588, 8723097, 1429602, 8325895, 15054848, 7849719, 7829510, 26443184, 2543071, 16088915, 8486375, 26626311, 8423604, 15671297, 26358419, 7757081, 7550321, 16752401, 1374906, 17721977, 7981752, 25060605, 7874117, 15316962; Phenotypes: ACHONDROGENESIS TYPE 2, OMIM:200610, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, OMIM:609508, KNIEST DYSPLASIA, OMIM:156550, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, OMIM:183900, SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, OMIM:184250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | COL25A1 | Achchuthan Shanmugasundram reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25500261; Phenotypes: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, OMIM:616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CNPY3 | Achchuthan Shanmugasundram reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29394991; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLPB | Achchuthan Shanmugasundram reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 25597510, 28687938; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, OMIM:616271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLP1 | Achchuthan Shanmugasundram reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24766809; Phenotypes: PONTOCEREBELLAR HYPOPLASIA, TYPE 10, OMIM:615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLDN19 | Achchuthan Shanmugasundram reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17033971; Phenotypes: HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCNKB | Achchuthan Shanmugasundram reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15044642, 18310267; Phenotypes: BARTTER SYNDROME TYPE 4B, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLCNKA | Achchuthan Shanmugasundram reviewed gene: CLCNKA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: BARTTER SYNDROME TYPE 4B, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CIT | Achchuthan Shanmugasundram reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27453578; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNG | Achchuthan Shanmugasundram reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: ; Publications: 16826520; Phenotypes: MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT, OMIM:265000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA3 | Achchuthan Shanmugasundram reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31708116; Phenotypes: CHRNA3-related congenital anomalies of the kidney and urinary tract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHMP1A | Achchuthan Shanmugasundram reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023333; Phenotypes: PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY, OMIM:614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD7 | Achchuthan Shanmugasundram reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 16400610, 17661815, 18978652, 17334995, 26590800, 17937444, 15300250, 18074359; Phenotypes: CHARGE SYNDROME, OMIM:214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHD4 | Achchuthan Shanmugasundram reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616479, 27479907; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CFC1 | Achchuthan Shanmugasundram reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS, OMIM:319372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP57 | Achchuthan Shanmugasundram reviewed gene: CEP57: Rating: GREEN; Mode of pathogenicity: ; Publications: 21552266, 12116237; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, OMIM:614114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CEP135 | Achchuthan Shanmugasundram reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: ; Publications: 22521416; Phenotypes: PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION, OMIM:614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDKL5 | Achchuthan Shanmugasundram reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19241098, 35934918, 17993579, 18809835, 15499549, 15689447, 19793311, 15492925, 16611748, 16813600, 19396824; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2, OMIM:300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK5RAP2 | Achchuthan Shanmugasundram reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32015000; Phenotypes: PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY, OMIM:279936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK13 | Achchuthan Shanmugasundram reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 29021403, 29222009, 28807008, 29393965; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDK10 | Achchuthan Shanmugasundram reviewed gene: CDK10: Rating: RED; Mode of pathogenicity: ; Publications: 28886341, 29130579; Phenotypes: Severe Growth Retardation, Spine Malformations, and Developmental Delays; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH2 | Achchuthan Shanmugasundram reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31585109, 31650526; Phenotypes: Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDH1 | Achchuthan Shanmugasundram reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29348693; Phenotypes: Blepharo-cheiro-dontic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC40 | Achchuthan Shanmugasundram reviewed gene: CDC40: Rating: RED; Mode of pathogenicity: Other; Publications: 33220177; Phenotypes: CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCNO | Achchuthan Shanmugasundram reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: 24747639; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 29, OMIM:615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC65 | Achchuthan Shanmugasundram reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC40 | Achchuthan Shanmugasundram reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131974; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 15, OMIM:613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC39 | Achchuthan Shanmugasundram reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131972; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 14, OMIM:613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC151 | Achchuthan Shanmugasundram reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: 25192045; Phenotypes: PRIMARY CILLARY DYSKINEASIA, OMIM:616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC114 | Achchuthan Shanmugasundram reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261303, 23261302; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC103 | Achchuthan Shanmugasundram reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: 22581229; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CARS2 | Achchuthan Shanmugasundram reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25361775, 25787132; Phenotypes: Epileptic encephalopathy with complex movement disorder and regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CARS | Achchuthan Shanmugasundram reviewed gene: CARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30824121; Phenotypes: Microcephaly Developmental Delay and Brittle Hair and Nails; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAMTA1 | Achchuthan Shanmugasundram reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693284; Phenotypes: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CACNA1D | Achchuthan Shanmugasundram reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131953, 23913001; Phenotypes: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OMIM:615474, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, OMIM:614896; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CA8 | Achchuthan Shanmugasundram reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19461874; Phenotypes: CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 3, OMIM:613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CA5A | Achchuthan Shanmugasundram reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24530203; Phenotypes: HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, OMIM:615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C21orf59 | Achchuthan Shanmugasundram reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C1QBP | Achchuthan Shanmugasundram reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942965; Phenotypes: Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | C11orf70 | Achchuthan Shanmugasundram reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727692, 29727693; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BUB1B | Achchuthan Shanmugasundram reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21190457, 9916837, 16411201, 11169558, 15475955; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OMIM:257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BSND | Achchuthan Shanmugasundram reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: ; Publications: 12574213, 11687798, 19646679; Phenotypes: BARTTER SYNDROME TYPE 4A, OMIM:602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BRAF | Achchuthan Shanmugasundram reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16372351, 19206169, 16474404, 18042262; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BNC2 | Achchuthan Shanmugasundram reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31051115; Phenotypes: Congenital Lower Urinary Tract Obstruction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BMP2 | Achchuthan Shanmugasundram reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BIN1 | Achchuthan Shanmugasundram reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17676042, 20142620; Phenotypes: CENTRONUCLEAR MYOPATHY 2, OMIM:255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BICD2 | Achchuthan Shanmugasundram reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23664120; Phenotypes: Proximal spinal muscular atrophy with brain anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BFSP2 | Achchuthan Shanmugasundram reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10634598, 10729115; Phenotypes: CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED, OMIM:611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCAS3 | Achchuthan Shanmugasundram reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34022130; Phenotypes: BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCAP31 | Achchuthan Shanmugasundram reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 28332767, 24011989; Phenotypes: DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS9 | Achchuthan Shanmugasundram reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380913, 22353939; Phenotypes: BARDET-BIEDL SYNDROME TYPE 9, OMIM:615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS7 | Achchuthan Shanmugasundram reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: 12567324; Phenotypes: BARDET-BIEDL SYNDROME TYPE 7, OMIM:615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS5 | Achchuthan Shanmugasundram reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203199, 15137946; Phenotypes: BARDET-BIEDL SYNDROME TYPE 5, OMIM:615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS4 | Achchuthan Shanmugasundram reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11381270, 12016587; Phenotypes: BARDET-BIEDL SYNDROME TYPE 4, OMIM:615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS2 | Achchuthan Shanmugasundram reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20618352, 11567139, 16823392, 11285252; Phenotypes: BARDET-BIEDL SYNDROME TYPE 2, OMIM:615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS12 | Achchuthan Shanmugasundram reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: 19797195, 26082521, 17160889, 20827784; Phenotypes: BARDET-BIEDL SYNDROME TYPE 12, OMIM:615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS10 | Achchuthan Shanmugasundram reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: 26762677, 20805367, 16582908; Phenotypes: BARDET-BIEDL SYNDROME TYPE 10, OMIM:615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BBS1 | Achchuthan Shanmugasundram reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143442, 12524598, 10577922, 10577921, 20177705, 12118255, 12837689; Phenotypes: BARDET-BIEDL SYNDROME TYPE 1, OMIM:209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B3GAT3 | Achchuthan Shanmugasundram reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: Other; Publications: 31438591; Phenotypes: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS, OMIM:245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | B3GALNT2 | Achchuthan Shanmugasundram reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29791932, 23453667; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11, OMIM:615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP8A2 | Achchuthan Shanmugasundram reviewed gene: ATP8A2: Rating: RED; Mode of pathogenicity: Other; Publications: 16075202, 22892528; Phenotypes: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 4, OMIM:615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP7A | Achchuthan Shanmugasundram reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 8149649, 11431706, 15372525, 19194885, 9246006, 17108763, 20170900, 10739752, 14635105, 9894833, 12221109, 19153371, 7842019, 8812725; Phenotypes: MENKES DISEASE, OMIM:309400, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, OMIM:300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1B1 | Achchuthan Shanmugasundram reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12566520, 18798332, 9916796; Phenotypes: DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS, OMIM:267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6V1A | Achchuthan Shanmugasundram reviewed gene: ATP6V1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28065471, 29668857, 32045939; Phenotypes: Autosomal Recessive Cutis Laxa, EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3, OMIM:618012; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP13A2 | Achchuthan Shanmugasundram reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PARKINSON DISEASE 9, OMIM:606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATL1 | Achchuthan Shanmugasundram reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35925862; Phenotypes: ATL1-associated hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATAD3A | Achchuthan Shanmugasundram reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004445, 27640307; Phenotypes: ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy, ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASPM | Achchuthan Shanmugasundram reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: ; Publications: 12355089; Phenotypes: PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY, OMIM:279936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASNS | Achchuthan Shanmugasundram reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 24139043, 27743885, 32255274, 28776279, 27268761, 31720226, 30978478, 27522229, 25227173, 27469131, 29375865, 29279279, 31123592, 32481472, 25663424, 30057589, 27422383; Phenotypes: Asparagine synthetase deficiency, OMIM:615574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASL | Achchuthan Shanmugasundram reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: ; Publications: 12384776, 12408190, 2263616; Phenotypes: ARGININOSUCCINATE LYASE DEFICIENCY, OMIM:207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASCC1 | Achchuthan Shanmugasundram reviewed gene: ASCC1: Rating: RED; Mode of pathogenicity: ; Publications: 35838082, 26924529; Phenotypes: Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ASAH1 | Achchuthan Shanmugasundram reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22703880, 8955159, 11241842, 10610716, 16951918; Phenotypes: SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY, OMIM:159950, FARBER LIPOGRANULOMATOSIS, OMIM:228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARX | Achchuthan Shanmugasundram reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: ; Publications: 12379852, 21108397, 19606478, 18462864, 19738637, 14722918, 10353782, 12177367, 17668384, 1605226, 11891829, 21204226, 11971879, 11889467; Phenotypes: PARTINGTON SYNDROME, OMIM:309510, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED ARX-RELATED, OMIM:300419; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARSE | Achchuthan Shanmugasundram reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 7720070, 12567415, 9409863; Phenotypes: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED, OMIM:302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARSB | Achchuthan Shanmugasundram reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: 1550123, 17643332, 8723688, 1301949, 1718978, 8651289; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 6, OMIM:253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARSA | Achchuthan Shanmugasundram reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1670590, 7906588, 8104633, 8101038, 9600244, 11941485, 11456299, 7833949, 7909527, 7858169, 1678251, 7815433, 1353340, 1673291, 12788103, 2574462, 11061266, 8101083, 7902317, 7866401, 1676699, 7981715, 1684088; Phenotypes: ARYLSULFATASE A DEFICIENCY, OMIM:250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARPC4 | Achchuthan Shanmugasundram reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35047857; Phenotypes: ARPC4-related microcephaly and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARNT2 | Achchuthan Shanmugasundram reviewed gene: ARNT2: Rating: RED; Mode of pathogenicity: ; Publications: 24022475; Phenotypes: ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARMC9 | Achchuthan Shanmugasundram reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 28625504; Phenotypes: Joubert syndrome 30, OMIM:617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARMC4 | Achchuthan Shanmugasundram reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849778; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 23, OMIM:615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL6 | Achchuthan Shanmugasundram reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12016587, 11381270, 16582908, 15137946, 12118255, 19956407, 21937992, 20805367, 15314642, 12567324, 22353939, 15258860, 20618352, 16380913, 11567139, 7711739, 16308660, 16606853, 18327255, 10973251, 12837689, 18203199, 8298649, 17160889, 14520415, 9714014, 12524598, 10973238, 20671153, 7987310; Phenotypes: BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, RETINITIS PIGMENTOSA TYPE 55, OMIM:613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL3 | Achchuthan Shanmugasundram reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30269812; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL14EP | Achchuthan Shanmugasundram reviewed gene: ARL14EP: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARID2 | Achchuthan Shanmugasundram reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36756859, 28124119; Phenotypes: ARID2-Coffin-Siris like disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARID1B | Achchuthan Shanmugasundram reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30349098, 22405089, 22426308, 22426309; Phenotypes: COFFIN SIRIS SYNDROME, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARID1A | Achchuthan Shanmugasundram reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COFFIN-SIRIS SYNDROME, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGEF9 | Achchuthan Shanmugasundram reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: ; Publications: 21633362, 28589176; Phenotypes: ARHGEF9-related developmental disorder (X-linked dominant); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGEF6 | Achchuthan Shanmugasundram reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 46, OMIM:300436; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGAP35 | Achchuthan Shanmugasundram reviewed gene: ARHGAP35: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 28641477; Phenotypes: ARHGAP35-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARHGAP31 | Achchuthan Shanmugasundram reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 16451141, 474617; Phenotypes: ADAMS-OLIVER SYNDROME 1, OMIM:100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARG1 | Achchuthan Shanmugasundram reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1463019, 1598908, 2365823, 10502833, 7649538; Phenotypes: ARGININEMIA, OMIM:207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARFGEF2 | Achchuthan Shanmugasundram reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14647276; Phenotypes: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OMIM:608097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARFGEF1 | Achchuthan Shanmugasundram reviewed gene: ARFGEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34113008; Phenotypes: ARFGEF1-related intellectual disability and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARF3 | Achchuthan Shanmugasundram reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36369169; Phenotypes: ARF3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARF1 | Achchuthan Shanmugasundram reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 28868155, 34353862; Phenotypes: PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARCN1 | Achchuthan Shanmugasundram reviewed gene: ARCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476655; Phenotypes: Microcephalic dwarfism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AR | Achchuthan Shanmugasundram reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200, ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ANO5 | Achchuthan Shanmugasundram reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307, GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMPD2 | Achchuthan Shanmugasundram reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23911318; Phenotypes: PONTOCEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AMOTL1 | Achchuthan Shanmugasundram reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36751037; Phenotypes: AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALX4 | Achchuthan Shanmugasundram reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRONTONASAL DYSPLASIA 2, OMIM:613451, PARIETAL FORAMINA 2, OMIM:609597; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH3A2 | Achchuthan Shanmugasundram reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9250352, 10577908, 10792573, 8528251, 9254849; Phenotypes: sjogren-larsson syndrome, OMIM:270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH1A2 | Achchuthan Shanmugasundram reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33565183; Phenotypes: ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDH18A1 | Achchuthan Shanmugasundram reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26829900, 26297557, 26297558, 26320891, 28228640, 26026163; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES, OMIM:612652, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, OMIM:601162, CUTIS LAXA, AUTOSOMAL DOMINANT 3, OMIM:616603; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AK2 | Achchuthan Shanmugasundram reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19043417, 19043416; Phenotypes: RETICULAR DYSGENESIS, OMIM:267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGXT | Achchuthan Shanmugasundram reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: 8101040; Phenotypes: HYPEROXALURIA, PRIMARY, TYPE 1, OMIM:259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGTPBP1 | Achchuthan Shanmugasundram reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30420557, 30976113, 31102495, 28600779; Phenotypes: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGA | Achchuthan Shanmugasundram reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1765378, 8776587, 6883788; Phenotypes: ASPARTYLGLUCOSAMINURIA, OMIM:208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADARB1 | Achchuthan Shanmugasundram reviewed gene: ADARB1: Rating: RED; Mode of pathogenicity: Other; Publications: 32220291; Phenotypes: ADARB1-associated Microcephaly, Intellectual Disability, and Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAR | Achchuthan Shanmugasundram reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 16935814, 23001123, 17478391, 24262145, 16817193, 12916015; Phenotypes: AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE, OMIM:615010, AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE BIALLELIC, OMIM:615010, DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1, OMIM:127400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTL6B | Achchuthan Shanmugasundram reviewed gene: ACTL6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28867141, 30656450, 31031012; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS, OMIM:618470, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTG1 | Achchuthan Shanmugasundram reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: BARAITSER-WINTER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACTB | Achchuthan Shanmugasundram reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29220674, 22366783, 27625340; Phenotypes: ACTB Haploinsufficiency syndtome, BARAITSER-WINTER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ACO2 | Achchuthan Shanmugasundram reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28545339, 29577077, 29564393, 22405087, 31106992; Phenotypes: INFANTILE CEREBELLAR-RETINAL DEGENERATION, OMIM:614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABL1 | Achchuthan Shanmugasundram reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28288113; Phenotypes: Congenital heart defects and skeletal malformations, OMIM:617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABHD5 | Achchuthan Shanmugasundram reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11590543; Phenotypes: CHANARIN-DORFMAN SYNDROME, OMIM:275630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABHD16A | Achchuthan Shanmugasundram reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34587489; Phenotypes: ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCC6 | Achchuthan Shanmugasundram reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 10835642, 22209248, 10811882, 10835643; Phenotypes: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, OMIM:614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AARS | Achchuthan Shanmugasundram reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817015, 34446925; Phenotypes: EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | YARS2 |
Achchuthan Shanmugasundram gene: YARS2 was added gene: YARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS2 were set to 23918765; 30026338; 20598274 Phenotypes for gene: YARS2 were set to MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561 |
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| DDG2P v3.11 | WASHC5 |
Achchuthan Shanmugasundram gene: WASHC5 was added gene: WASHC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WASHC5 were set to 24065355 Phenotypes for gene: WASHC5 were set to WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210 |
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| DDG2P v3.11 | WARS |
Achchuthan Shanmugasundram gene: WARS was added gene: WARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WARS were set to 28369220; 31321409; 31069783; 35815345 Phenotypes for gene: WARS were set to WARS1-associated neurodevelopmental syndrome; Distal hereditary motor neuropathy |
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| DDG2P v3.11 | USP14 |
Achchuthan Shanmugasundram gene: USP14 was added gene: USP14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 35066879 Phenotypes for gene: USP14 were set to DISTAL ARTHROGRYPOSIS Mode of pathogenicity for gene: USP14 was set to Other |
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| DDG2P v3.11 | UQCRFS1 |
Achchuthan Shanmugasundram gene: UQCRFS1 was added gene: UQCRFS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRFS1 were set to 31883641 Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis |
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| DDG2P v3.11 | TTC12 |
Achchuthan Shanmugasundram gene: TTC12 was added gene: TTC12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC12 were set to 31978331 Phenotypes for gene: TTC12 were set to TTC12-related Primary Ciliary Dyskinesia |
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| DDG2P v3.11 | TRAPPC2L |
Achchuthan Shanmugasundram gene: TRAPPC2L was added gene: TRAPPC2L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC2L were set to 32843486; 30120216 Phenotypes for gene: TRAPPC2L were set to TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331 Mode of pathogenicity for gene: TRAPPC2L was set to Other |
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| DDG2P v3.11 | TP73 |
Achchuthan Shanmugasundram gene: TP73 was added gene: TP73 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 34077761 Phenotypes for gene: TP73 were set to TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466 |
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| DDG2P v3.11 | TOGARAM1 |
Achchuthan Shanmugasundram gene: TOGARAM1 was added gene: TOGARAM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439; 32453716 Phenotypes for gene: TOGARAM1 were set to TOGARAM1-related ciliopathy |
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| DDG2P v3.11 | TMX2 |
Achchuthan Shanmugasundram gene: TMX2 was added gene: TMX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMX2 were set to 31735293 Phenotypes for gene: TMX2 were set to Primary microcephaly, cortical malformation and epileptic encephalopathy |
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| DDG2P v3.11 | TMEM63C |
Achchuthan Shanmugasundram gene: TMEM63C was added gene: TMEM63C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM63C were set to 35718349 Phenotypes for gene: TMEM63C were set to TMEM63C-associated hereditary spastic paraplegia |
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| DDG2P v3.11 | TMEM240 |
Achchuthan Shanmugasundram gene: TMEM240 was added gene: TMEM240 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM240 were set to 30522958; 25070513; 29687291; 32705938; 26813285 Phenotypes for gene: TMEM240 were set to TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454 |
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| DDG2P v3.11 | TKFC |
Achchuthan Shanmugasundram gene: TKFC was added gene: TKFC was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKFC were set to 32004446 Phenotypes for gene: TKFC were set to TKFC-related Cataracts and Multisystem Disease |
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| DDG2P v3.11 | THG1L |
Achchuthan Shanmugasundram gene: THG1L was added gene: THG1L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THG1L were set to 30214071; 27307223; 31168944; 33682303 Phenotypes for gene: THG1L were set to THG1L-associated cerebellar ataxia, OMIM:618800 Mode of pathogenicity for gene: THG1L was set to Other |
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| DDG2P v3.11 | TFE3 |
Achchuthan Shanmugasundram gene: TFE3 was added gene: TFE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFE3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TFE3 were set to 30595499; 33057194; 32409512; 31833172 Phenotypes for gene: TFE3 were set to TFE3-related intellectual disability with pigmentary mosaicism; Intellectual disability with pigmentary mosaicism and storage disorder Mode of pathogenicity for gene: TFE3 was set to Other |
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| DDG2P v3.11 | TARS |
Achchuthan Shanmugasundram Source Expert Review Green was added to TARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | STAR | Achchuthan Shanmugasundram Publications for gene: STAR were updated from 15546900; 8634702; 16968793; 14764819; 10566637; 9141542; 7892608; 8948562; 10323391 to 8634702; 8948562; 16968793; 9141542; 7892608; 15546900; 14764819; 10566637; 10323391 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPRY1 |
Achchuthan Shanmugasundram gene: SPRY1 was added gene: SPRY1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRY1 were set to 36543535 Phenotypes for gene: SPRY1 were set to SPRY1-associated craniosynostosis with inner ear and renal anomalies Mode of pathogenicity for gene: SPRY1 was set to Other |
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| DDG2P v3.11 | SPATA5L1 |
Achchuthan Shanmugasundram gene: SPATA5L1 was added gene: SPATA5L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 34626583 Phenotypes for gene: SPATA5L1 were set to SPATA5L1-associated sensorineural hearing loss and intellectual disability |
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| DDG2P v3.11 | SPARC |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPARC. Mode of pathogenicity for gene SPARC was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMARCE1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCE1. Mode of pathogenicity for gene SMARCE1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMARCD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1. Mode of pathogenicity for gene SMARCD1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMARCC2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | SMARCB1 | Achchuthan Shanmugasundram Publications for gene: SMARCB1 were updated from 25249037; 23929686; 22726846; 23906836; 23815551; 29907796; 22426308 to 9671307; 22726846; 25249037; 23906836; 22426308; 10739763; 10521299; 23929686; 23815551; 29907796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMARCA2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SMARCA2 was changed from Other - please provide details in the comments to Other Publications for gene: SMARCA2 were updated from 19606471; 22426308; 22366787 to 32694869; 19606471; 22366787; 22426308 |
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| DDG2P v3.11 | SLC25A42 |
Achchuthan Shanmugasundram gene: SLC25A42 was added gene: SLC25A42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337 Phenotypes for gene: SLC25A42 were set to SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 |
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| DDG2P v3.11 | SARS2 |
Achchuthan Shanmugasundram gene: SARS2 was added gene: SARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 21255763; 33751860; 24034276 Phenotypes for gene: SARS2 were set to SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845 Mode of pathogenicity for gene: SARS2 was set to Other |
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| DDG2P v3.11 | SARS |
Achchuthan Shanmugasundram gene: SARS was added gene: SARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS were set to 28236339; 34570399; 36041817 Phenotypes for gene: SARS were set to SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Autosomal dominant SARS1-related neurodevelopmental disorder Mode of pathogenicity for gene: SARS was set to Other |
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| DDG2P v3.11 | RYR2 |
Achchuthan Shanmugasundram gene: RYR2 was added gene: RYR2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 30170228 Phenotypes for gene: RYR2 were set to RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability Mode of pathogenicity for gene: RYR2 was set to Other |
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| DDG2P v3.11 | REST |
Achchuthan Shanmugasundram gene: REST was added gene: REST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: REST were set to 36509837 Phenotypes for gene: REST were set to REST-related gingival fibromatosis and sensorineural hearing loss Mode of pathogenicity for gene: REST was set to Other |
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| DDG2P v3.11 | RARS2 | Achchuthan Shanmugasundram Publications for gene: RARS2 were updated from to 34085948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RARS |
Achchuthan Shanmugasundram gene: RARS was added gene: RARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS were set to 28905880; 31814314 Phenotypes for gene: RARS were set to RARS1 related hypomyelinating leukodystrophy |
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| DDG2P v3.11 | RARB | Achchuthan Shanmugasundram Publications for gene: RARB were updated from 24075189 to 27120018; 24075189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | QARS |
Achchuthan Shanmugasundram Source Expert Review Green was added to QARS. Mode of pathogenicity for gene QARS was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | PRKAR1B |
Achchuthan Shanmugasundram gene: PRKAR1B was added gene: PRKAR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKAR1B were set to 33057194; 33833410 Phenotypes for gene: PRKAR1B were set to PRKAR1B-related developmental disorder Mode of pathogenicity for gene: PRKAR1B was set to Other |
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| DDG2P v3.11 | PRKAR1A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKAR1A was changed from Other - please provide details in the comments to Other Publications for gene: PRKAR1A were updated from 22464252; 21651393; 22464250 to 22464250; 22464252; 21651393 |
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| DDG2P v3.11 | PRIM1 |
Achchuthan Shanmugasundram gene: PRIM1 was added gene: PRIM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIM1 were set to 33060134 Phenotypes for gene: PRIM1 were set to PRIM1-related Primordial Dwarfism |
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| DDG2P v3.11 | PRDX3 |
Achchuthan Shanmugasundram gene: PRDX3 was added gene: PRDX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDX3 were set to 35766882 Phenotypes for gene: PRDX3 were set to PRDX3-associated cerebellar ataxia |
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| DDG2P v3.11 | PRDM13 |
Achchuthan Shanmugasundram gene: PRDM13 was added gene: PRDM13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM13 were set to 35390279 Phenotypes for gene: PRDM13 were set to PRDM13-related olivopentocerebellar hypoplasia syndrome |
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| DDG2P v3.11 | PPP1R13L |
Achchuthan Shanmugasundram gene: PPP1R13L was added gene: PPP1R13L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 32666529; 28069640 Phenotypes for gene: PPP1R13L were set to PPP1R13L-related dilated cardiomyopathy |
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| DDG2P v3.11 | PPIL1 |
Achchuthan Shanmugasundram gene: PPIL1 was added gene: PPIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIL1 were set to 33220177 Phenotypes for gene: PPIL1 were set to PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly |
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| DDG2P v3.11 | POMK |
Achchuthan Shanmugasundram gene: POMK was added gene: POMK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMK were set to 32907597; 31833209; 24556084; 24925318 Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 |
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| DDG2P v3.11 | POLE |
Achchuthan Shanmugasundram gene: POLE was added gene: POLE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 30503519; 25948378; 35860951; 23230001 Phenotypes for gene: POLE were set to IMAGe Syndrome with variable immunodeficiency |
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| DDG2P v3.11 | PI4KA |
Achchuthan Shanmugasundram gene: PI4KA was added gene: PI4KA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 34415310; 34415322; 25855803 Phenotypes for gene: PI4KA were set to PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
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| DDG2P v3.11 | PCYT2 |
Achchuthan Shanmugasundram gene: PCYT2 was added gene: PCYT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 32889549; 31637422 Phenotypes for gene: PCYT2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033 |
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| DDG2P v3.11 | PARP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PARP1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OXR1 |
Achchuthan Shanmugasundram gene: OXR1 was added gene: OXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXR1 were set to 31785787 Phenotypes for gene: OXR1 were set to Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction |
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| DDG2P v3.11 | OGDHL |
Achchuthan Shanmugasundram gene: OGDHL was added gene: OGDHL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDHL were set to 34800363 Phenotypes for gene: OGDHL were set to OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia |
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| DDG2P v3.11 | NUP54 |
Achchuthan Shanmugasundram gene: NUP54 was added gene: NUP54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP54 were set to 36333996 Phenotypes for gene: NUP54 were set to NUP54-related early-onset dystonia with striatal lesions Mode of pathogenicity for gene: NUP54 was set to Other |
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| DDG2P v3.11 | NKAP |
Achchuthan Shanmugasundram gene: NKAP was added gene: NKAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NKAP were set to 31587868 Phenotypes for gene: NKAP were set to Marfanoid Habitus and Cognitive Impairment Mode of pathogenicity for gene: NKAP was set to Other |
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| DDG2P v3.11 | NDUFV2 |
Achchuthan Shanmugasundram gene: NDUFV2 was added gene: NDUFV2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 26008862; 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Mode of pathogenicity for gene: NDUFV2 was set to Other |
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| DDG2P v3.11 | NDUFB7 |
Achchuthan Shanmugasundram gene: NDUFB7 was added gene: NDUFB7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB7 were set to 33502047 Phenotypes for gene: NDUFB7 were set to NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy |
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| DDG2P v3.11 | NARS2 |
Achchuthan Shanmugasundram gene: NARS2 was added gene: NARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NARS2 were set to 32020600; 25807530; 28716262; 28077841; 25385316; 30327238; 35703918; 34415467; 25629079 Phenotypes for gene: NARS2 were set to NARS2-associated oxidative phosphorylation deficiency |
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| DDG2P v3.11 | NARS |
Achchuthan Shanmugasundram gene: NARS was added gene: NARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225; 32788587 Phenotypes for gene: NARS were set to NARS1 Neurodevelopmental Disorder (monoallelic); NARS1 Neurodevelopmental Disorder (biallelic) |
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| DDG2P v3.11 | MYSM1 |
Achchuthan Shanmugasundram gene: MYSM1 was added gene: MYSM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYSM1 were set to 26220525; 32640305; 28115216; 33618624; 24288411 Phenotypes for gene: MYSM1 were set to MYSM1-related congenital bone marrow failure, OMIM:618116 |
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| DDG2P v3.11 | MYLPF |
Achchuthan Shanmugasundram gene: MYLPF was added gene: MYLPF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to MYLPF arthrogryposis (monoallelic); MYLPF arthrogryposis (biallelic) Mode of pathogenicity for gene: MYLPF was set to Other |
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| DDG2P v3.11 | MYBPC1 |
Achchuthan Shanmugasundram gene: MYBPC1 was added gene: MYBPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 31264822; 31966463; 22610851; 26661508; 25679999; 20045868 Phenotypes for gene: MYBPC1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915; MYBPC1-related arthrogryposis and myopathy |
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| DDG2P v3.11 | LMNB2 |
Achchuthan Shanmugasundram gene: LMNB2 was added gene: LMNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LMNB2 were set to 33033404 Phenotypes for gene: LMNB2 were set to LMNB2-related Primary Microcephaly Mode of pathogenicity for gene: LMNB2 was set to Other |
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| DDG2P v3.11 | LARS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LARS2. Mode of pathogenicity for gene LARS2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | LARP7 | Achchuthan Shanmugasundram Publications for gene: LARP7 were updated from 26374271; 21937992; 26607181 to 21937992; 26374271; 26607181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LARGE1 | Achchuthan Shanmugasundram Publications for gene: LARGE1 were updated from 12966029; 21248746 to 17436019; 19299310; 12966029; 21248746; 19067344 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KARS | Achchuthan Shanmugasundram Publications for gene: KARS were updated from 23768514 to 20920668; 23768514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | JARID2 |
Achchuthan Shanmugasundram gene: JARID2 was added gene: JARID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JARID2 were set to 33077894; 35533077 Phenotypes for gene: JARID2 were set to JARID2-related Neurodevelopmental Disorder |
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| DDG2P v3.11 | JAG2 |
Achchuthan Shanmugasundram gene: JAG2 was added gene: JAG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAG2 were set to 33861953 Phenotypes for gene: JAG2 were set to JAG2-related muscular dystrophy |
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| DDG2P v3.11 | IARS2 | Achchuthan Shanmugasundram Publications for gene: IARS2 were updated from 25130867 to 25130867; 28328135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IARS |
Achchuthan Shanmugasundram Source Expert Review Green was added to IARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | HYAL2 |
Achchuthan Shanmugasundram gene: HYAL2 was added gene: HYAL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 28081210; 34906488 Phenotypes for gene: HYAL2 were set to HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies |
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| DDG2P v3.11 | HNRNPA2B1 |
Achchuthan Shanmugasundram gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPA2B1 were set to 35484142 Phenotypes for gene: HNRNPA2B1 were set to Early-onset oculopharyngeal muscular dystrophy |
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| DDG2P v3.11 | HERC1 |
Achchuthan Shanmugasundram gene: HERC1 was added gene: HERC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117 Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011 |
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| DDG2P v3.11 | HARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene HARS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GRID2 |
Achchuthan Shanmugasundram gene: GRID2 was added gene: GRID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRID2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GRID2 were set to 31183084; 25841024; 24078737; 23611888; 28856174 Phenotypes for gene: GRID2 were set to GRID2-related cerebellar ataxia, biallelic; GRID2-related cerebellar ataxia, monoallelic |
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| DDG2P v3.11 | GEMIN5 |
Achchuthan Shanmugasundram gene: GEMIN5 was added gene: GEMIN5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN5 were set to 33963192 Phenotypes for gene: GEMIN5 were set to GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333 |
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| DDG2P v3.11 | GEMIN4 |
Achchuthan Shanmugasundram gene: GEMIN4 was added gene: GEMIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN4 were set to 30237576; 35861185; 27878435; 25558065 Phenotypes for gene: GEMIN4 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913 Mode of pathogenicity for gene: GEMIN4 was set to Other |
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| DDG2P v3.11 | GATA3 |
Achchuthan Shanmugasundram gene: GATA3 was added gene: GATA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA3 were set to 25510779; 15830275; 30396722; 29026277; 26268891; 23291697; 26316437; 21834031; 27387476; 19723756; 23203342; 29593425; 29073906; 29025137; 25771973; 21242646; 21157112; 21120445; 11389161; 23186964; 23052618; 16509533; 25124981; 31885872; 19952462; 26777049; 19248180; 24434941; 15705923; 26514990; 26800885; 28566604; 19253381; 30534854; 10935639; 21399899; 28303854; 17309062 Phenotypes for gene: GATA3 were set to HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255 |
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| DDG2P v3.11 | FARS2 | Achchuthan Shanmugasundram Publications for gene: FARS2 were updated from 29326872; 28043061; 27095821; 29126765; 27549011 to 29326872; 27549011; 29126765; 28043061; 27095821 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FAR1 | Achchuthan Shanmugasundram Publications for gene: FAR1 were updated from to 25439727 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EXOSC2 |
Achchuthan Shanmugasundram gene: EXOSC2 was added gene: EXOSC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC2 were set to 36069504; 26843489 Phenotypes for gene: EXOSC2 were set to EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome |
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| DDG2P v3.11 | EPCAM |
Achchuthan Shanmugasundram gene: EPCAM was added gene: EPCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPCAM were set to 21315192; 24048167; 24142340; 18572020; 20034091; 26684320; 27875355; 19820410 Phenotypes for gene: EPCAM were set to DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217 |
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| DDG2P v3.11 | EDAR | Achchuthan Shanmugasundram Publications for gene: EDAR were updated from to 10431241; 16435307; 20979233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DNAJB4 |
Achchuthan Shanmugasundram gene: DNAJB4 was added gene: DNAJB4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB4 were set to 36264506 Phenotypes for gene: DNAJB4 were set to DNAJB4-related myopathy with early respiratory failure |
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| DDG2P v3.11 | DARS | Achchuthan Shanmugasundram Mode of pathogenicity for gene DARS was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CYFIP2 |
Achchuthan Shanmugasundram gene: CYFIP2 was added gene: CYFIP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CYFIP2 were set to 29534297; 31689829; 30664714; 29667327 Phenotypes for gene: CYFIP2 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468 Mode of pathogenicity for gene: CYFIP2 was set to Other |
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| DDG2P v3.11 | COPB1 |
Achchuthan Shanmugasundram gene: COPB1 was added gene: COPB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB1 were set to 33632302 Phenotypes for gene: COPB1 were set to COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly Mode of pathogenicity for gene: COPB1 was set to Other |
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| DDG2P v3.11 | COL6A2 |
Achchuthan Shanmugasundram gene: COL6A2 was added gene: COL6A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL6A2 were set to 34167565; 15563506; 20106987; 11381124; 16075202; 19564581; 12218063 Phenotypes for gene: COL6A2 were set to COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090; COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090 |
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| DDG2P v3.11 | CHRNA3 |
Achchuthan Shanmugasundram gene: CHRNA3 was added gene: CHRNA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA3 were set to 31708116 Phenotypes for gene: CHRNA3 were set to CHRNA3-related congenital anomalies of the kidney and urinary tract |
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| DDG2P v3.11 | CDC40 |
Achchuthan Shanmugasundram gene: CDC40 was added gene: CDC40 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC40 were set to 33220177 Phenotypes for gene: CDC40 were set to CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Mode of pathogenicity for gene: CDC40 was set to Other |
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| DDG2P v3.11 | CARS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CARS2. Publications for gene: CARS2 were updated from 25787132; 25361775 to 25361775; 25787132 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CARS |
Achchuthan Shanmugasundram Source Expert Review Green was added to CARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | BCAS3 |
Achchuthan Shanmugasundram gene: BCAS3 was added gene: BCAS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to 34022130 Phenotypes for gene: BCAS3 were set to BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy |
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| DDG2P v3.11 | ATL1 |
Achchuthan Shanmugasundram gene: ATL1 was added gene: ATL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to 35925862 Phenotypes for gene: ATL1 were set to ATL1-associated hereditary spastic paraplegia |
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| DDG2P v3.11 | ASNS |
Achchuthan Shanmugasundram gene: ASNS was added gene: ASNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNS were set to 24139043; 27743885; 32255274; 28776279; 27268761; 31720226; 30978478; 27522229; 25227173; 27469131; 29375865; 29279279; 31123592; 32481472; 25663424; 30057589; 27422383 Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, OMIM:615574 |
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| DDG2P v3.11 | ARX | Achchuthan Shanmugasundram Publications for gene: ARX were updated from 14722918; 11891829; 12379852 to 12379852; 21108397; 19606478; 18462864; 19738637; 11971879; 10353782; 12177367; 17668384; 1605226; 11891829; 21204226; 14722918; 11889467 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARSE | Achchuthan Shanmugasundram Publications for gene: ARSE were updated from 9409863; 7720070; 12567415 to 7720070; 12567415; 9409863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARSB | Achchuthan Shanmugasundram Publications for gene: ARSB were updated from 1718978; 1301949; 17643332; 8723688; 1550123; 8651289 to 1550123; 17643332; 8723688; 1301949; 1718978; 8651289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARSA | Achchuthan Shanmugasundram Publications for gene: ARSA were updated from 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462 to 1670590; 7906588; 8101038; 8104633; 9600244; 11941485; 11456299; 7833949; 7909527; 7858169; 1678251; 7815433; 1353340; 1673291; 12788103; 2574462; 11061266; 8101083; 7902317; 7866401; 1676699; 7981715; 1684088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARPC4 |
Achchuthan Shanmugasundram gene: ARPC4 was added gene: ARPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARPC4 were set to 35047857 Phenotypes for gene: ARPC4 were set to ARPC4-related microcephaly and developmental delay Mode of pathogenicity for gene: ARPC4 was set to Other |
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| DDG2P v3.11 | ARNT2 |
Achchuthan Shanmugasundram gene: ARNT2 was added gene: ARNT2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARNT2 were set to 24022475 Phenotypes for gene: ARNT2 were set to ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926 |
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| DDG2P v3.11 | ARL6 | Achchuthan Shanmugasundram Publications for gene: ARL6 were updated from 19956407 to 12016587; 11381270; 7987310; 16582908; 15137946; 12118255; 19956407; 21937992; 20805367; 15314642; 12567324; 22353939; 15258860; 20618352; 11567139; 7711739; 16308660; 16606853; 18327255; 10973251; 12837689; 18203199; 8298649; 17160889; 14520415; 9714014; 12524598; 10973238; 20671153; 16380913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARL3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3. Mode of pathogenicity for gene ARL3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ARL14EP | Achchuthan Shanmugasundram Mode of pathogenicity for gene ARL14EP was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARID2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2. Publications for gene: ARID2 were updated from 28124119 to 36756859; 28124119 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ARID1B | Achchuthan Shanmugasundram Publications for gene: ARID1B were updated from 22426309; 22426308; 22405089; 30349098 to 30349098; 22426309; 22426308; 22405089 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARHGEF9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGEF9. Mode of inheritance for gene ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ARHGEF9 were updated from 21633362 to 21633362; 28589176 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ARHGAP35 |
Achchuthan Shanmugasundram gene: ARHGAP35 was added gene: ARHGAP35 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARHGAP35 were set to 33057194; 28641477 Phenotypes for gene: ARHGAP35 were set to ARHGAP35-related developmental disorder (monoallelic) |
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| DDG2P v3.11 | ARHGAP31 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGAP31. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ARG1 | Achchuthan Shanmugasundram Publications for gene: ARG1 were updated from 10502833; 2365823; 1463019; 7649538; 1598908 to 1463019; 1598908; 2365823; 10502833; 7649538 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARFGEF2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARFGEF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | ARFGEF1 |
Achchuthan Shanmugasundram gene: ARFGEF1 was added gene: ARFGEF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARFGEF1 were set to 34113008 Phenotypes for gene: ARFGEF1 were set to ARFGEF1-related intellectual disability and epilepsy |
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| DDG2P v3.11 | ARF3 |
Achchuthan Shanmugasundram gene: ARF3 was added gene: ARF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARF3 were set to 36369169 Phenotypes for gene: ARF3 were set to ARF3-related neurodevelopmental disorder Mode of pathogenicity for gene: ARF3 was set to Other |
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| DDG2P v3.11 | ARF1 |
Achchuthan Shanmugasundram gene: ARF1 was added gene: ARF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARF1 were set to 33057194; 28868155; 34353862 Phenotypes for gene: ARF1 were set to PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615 Mode of pathogenicity for gene: ARF1 was set to Other |
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| DDG2P v3.11 | ARCN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARCN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | AMOTL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AMOTL1. Source DD-Gene2Phenotype was added to AMOTL1. Mode of inheritance for gene AMOTL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature for gene: AMOTL1 Publications for gene: AMOTL1 were updated from PMID: 36751037 to PMID: 36751037; 36751037 Rating Changed from No List (delete) to Green List (high evidence) |
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| DDG2P v3.11 | ALDH1A2 |
Achchuthan Shanmugasundram gene: ALDH1A2 was added gene: ALDH1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183 Phenotypes for gene: ALDH1A2 were set to ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia Mode of pathogenicity for gene: ALDH1A2 was set to Other |
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| DDG2P v3.11 | AGTPBP1 |
Achchuthan Shanmugasundram gene: AGTPBP1 was added gene: AGTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTPBP1 were set to 30420557; 30976113; 31102495; 28600779 Phenotypes for gene: AGTPBP1 were set to NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276 |
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| DDG2P v3.11 | ADARB1 |
Achchuthan Shanmugasundram gene: ADARB1 was added gene: ADARB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADARB1 were set to 32220291 Phenotypes for gene: ADARB1 were set to ADARB1-associated Microcephaly, Intellectual Disability, and Seizures Mode of pathogenicity for gene: ADARB1 was set to Other |
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| DDG2P v3.11 | ADAR | Achchuthan Shanmugasundram Publications for gene: ADAR were updated from 23001123 to 16935814; 23001123; 17478391; 24262145; 16817193; 12916015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ABHD16A |
Achchuthan Shanmugasundram gene: ABHD16A was added gene: ABHD16A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to 34587489 Phenotypes for gene: ABHD16A were set to ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum |
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| DDG2P v3.11 | AARS |
Achchuthan Shanmugasundram Source Expert Review Green was added to AARS. Publications for gene: AARS were updated from 25817015 to 25817015; 34446925 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.10 | CLCNKA | Sarah Leigh Phenotypes for gene: CLCNKA were changed from BARTTER SYNDROME TYPE 4B 613090 to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.9 | CLCNKA | Sarah Leigh changed review comment from: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.; to: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.8 | CLCNKA | Sarah Leigh Added comment: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.7 | SLC22A5 | Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.6 | MAP4K4 |
Irina Ziravecka gene: MAP4K4 was added gene: MAP4K4 was added to DDG2P. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to PMID: 37126546 Phenotypes for gene: MAP4K4 were set to neurodevelopmental differences; multiple congenital anomalies Mode of pathogenicity for gene: MAP4K4 was set to Other Review for gene: MAP4K4 was set to GREEN Added comment: PMID: 37126546 - "a cohort of 26 affected individuals from 21 unrelated families with neurodevelopmental differences, cardiac issues, and CFAs who share a phenotype overlap with RASopathies and harbor a series of rare variants in MAP4K4. Functional studies in zebrafish showed that MAP4K4 variants caused hypomorphic, LOF, or DN effects." Sources: Literature |
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| DDG2P v3.6 | AMOTL1 |
Irina Ziravecka edited their review of gene: AMOTL1: Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. 5 out of 16 patients in this cohort have developmental delay.; Changed phenotypes to: orofacial clefting, cardiac anomalies, tall stature, distinct dysmorphisms (abnormal head shape, craniosynostosis, hypertelorism, and large ears), myopia, hearing loss, micrognathia, immune dysfunction, scoliosis, chronic constipation, liver dysfunction, global developmental delay |
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| DDG2P v3.6 | AMOTL1 |
Irina Ziravecka changed review comment from: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. Sources: Other; to: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. 5 out of 16 patients in this cohort have developmental delay. |
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| DDG2P v3.6 | AMOTL1 |
Irina Ziravecka gene: AMOTL1 was added gene: AMOTL1 was added to DDG2P. Sources: Other Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMOTL1 were set to PMID: 36751037 Phenotypes for gene: AMOTL1 were set to orofacial clefting; cardiac anomalies; tall stature Mode of pathogenicity for gene: AMOTL1 was set to Other Review for gene: AMOTL1 was set to GREEN Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region. Sources: Other |
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| DDG2P v3.5 | ETFB | Sarah Leigh Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B 231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.4 | ETFA | Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A 231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.83 | ROR2 | Arina Puzriakova Phenotypes for gene: ROR2 were changed from ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700; BRACHYDACTYLY, TYPE B1 113000; ROR2-RELATED DISORDERS AR 268310 to Brachydactyly, type B1, OMIM:113000 (AD); Robinow syndrome, autosomal recessive, OMIM:268310 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.80 | ST3GAL3 | Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090 to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.78 | RAP1GDS1 | Eleanor Williams changed review comment from: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel.; to: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. It is not currently listed on the DD panel. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | AR |
Eleanor Williams Tag Q3_22_rating tag was added to gene: AR. Tag Q3_22_expert_review tag was added to gene: AR. |
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| DDG2P v2.76 | AR | Eleanor Williams commented on gene: AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | ZNF526 | Sarah Leigh Phenotypes for gene: ZNF526 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.74 | BFSP2 | Dmitrijs Rots reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.68 | PEX6 | Sarah Leigh changed review comment from: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; to: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.67 | PEX6 | Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed phenotypes to: 29220678; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.67 | PEX6 | Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal in order to detect the dominant Peroxisome biogenesis disorder 4B. Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.60 | XPNPEP3 | Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | PMS2 | Dmitrijs Rots changed review comment from: DD is not part of the phenotype. Red on ID list.; to: DD is not part of the phenotype. Red on ID list. Other MMR deficiency genes are not in the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | AR | Dmitrijs Rots reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy, Androgen insensitivity syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.55 | TPP2 |
Dmitrijs Rots gene: TPP2 was added gene: TPP2 was added to DDG2P. Sources: Literature Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP2 were set to PMID: 25414442 Phenotypes for gene: TPP2 were set to Developmental delay; immunodefficiency; autoimmunity Review for gene: TPP2 was set to GREEN Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion) syndrome are summarized in 25414442, where in 9/14 DD was present, which seems to be a common feature. Sources: Literature |
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| DDG2P v2.53 | PBX1 |
Dmitrijs Rots gene: PBX1 was added gene: PBX1 was added to DDG2P. Sources: Literature Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Review for gene: PBX1 was set to GREEN Added comment: Syndromic gene. Most of the individuals present with developmental delay, according to OMIM. Sources: Literature |
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| DDG2P v2.53 | TARS | Arina Puzriakova Tag new-gene-name tag was added to gene: TARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | ATG7 |
Dmitrijs Rots gene: ATG7 was added gene: ATG7 was added to DDG2P. Sources: Literature Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to PMID:34161705 Phenotypes for gene: ATG7 were set to developmental delay; ataxia Review for gene: ATG7 was set to GREEN Added comment: Zornitsa Stark wrote for this gene in Ataxia panel: "12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk. Functional data including mouse model. " Should be also on ID panel. Sources: Literature |
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| DDG2P v2.50 | RAP1GDS1 |
Dmitrijs Rots gene: RAP1GDS1 was added gene: RAP1GDS1 was added to DDG2P. Sources: Literature Mode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAP1GDS1 were set to PMID: 33875846 Phenotypes for gene: RAP1GDS1 were set to Intellectual disability, developmental delay Review for gene: RAP1GDS1 was set to GREEN Added comment: Additional cases (three with same splice variant, which segregates in one family) and one frameshift variant reported in PMID: 33875846. Cases seem to overlap ones reported in PMID: 32431071. Sources: Literature |
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| DDG2P v2.50 | TAF4 |
Dmitrijs Rots gene: TAF4 was added gene: TAF4 was added to DDG2P. Sources: Literature Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAF4 were set to 33875846 Phenotypes for gene: TAF4 were set to Developmental delay Penetrance for gene: TAF4 were set to unknown Review for gene: TAF4 was set to GREEN Added comment: From the literature: "A heterozygous de novo variant (frameshift) was reported in TAF4 by Kosmicki et al., in a patient with autism.36 The gene has no phenotypic association in OMIM (accessed 12 October 2020). Within this study, we identified two additional de novo LoF variants (splicing and nonsense) in two unrelated patients with dysmorphic features and NDD. TAF4 is highly intolerant to LoF as documented in gnomAD (pLi = 1). Expression of TAF4 varies during development and in the processes of cell differentiation; TAF4 is detected in various regions of the human brain, and it is believed to control the differentiation of human neural progenitor cells having a role in the regulation of neural development and brain function.37 The current data suggests that TAF4 haploinsufficiency leads to NDD in humans." Sources: Literature |
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| DDG2P v2.50 | KPNA3 |
Dmitrijs Rots gene: KPNA3 was added gene: KPNA3 was added to DDG2P. Sources: Literature Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KPNA3 were set to PMID: 34564892 Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay Penetrance for gene: KPNA3 were set to unknown Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KPNA3 was set to GREEN Added comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892 Sources: Literature |
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| DDG2P v2.50 | PLCB4 | Kate Downes reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22560091, PMID: 23315542, PMID: 28328130, PMID: 23913798; Phenotypes: Auriculocondylar syndrome 2 (OMIM: 614669); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | PRDM12 | Sarah Leigh Phenotypes for gene: PRDM12 were changed from HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488 to Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488; congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.49 | TMEM260 | Sarah Leigh edited their review of gene: TMEM260: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least eight variants have been reported in at least six unrelated cases. The variants included: one multi-exon deletion resulting in a frameshift, two smaller frameshifting deletions, two nonsense, one splicing change and two missense changes, one of which was shown by cDNA sequencing to result in skipping of exon 3 (PMID 34612517).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.48 | TMEM260 | Sarah Leigh Phenotypes for gene: TMEM260 were changed from Neurodevelopmental, Cardiac, and Renal Syndrome to Structural heart defects and renal anomalies syndrome OMIM:617478; Structural heart defects and renal anomalies syndrome MONDO:0044321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.46 | ALG8 | Sarah Leigh Added comment: Comment on mode of inheritance: Monoallelic variants are associated with Polycystic liver disease 3 with or without kidney cysts OMIM:617874, which is not relevant to this panel. Therefore biallelic moi is relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.42 | GNB1 | Sarah Leigh Phenotypes for gene: GNB1 were changed from Severe Neurodevelopmental Disability, Hypotonia, and Seizures to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.41 | KIF1A | Arina Puzriakova Phenotypes for gene: KIF1A were changed from NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255 to NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213; NESCAV SYNDROME, 614255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.40 | TWIST2 | Ivone Leong Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME 200110; SETLEIS SYNDROME 227260 to ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.39 | ZDHHC9 |
Ivone Leong Added comment: Comment on phenotypes: Previously: MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799 |
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| DDG2P v2.39 | ZDHHC9 | Ivone Leong Phenotypes for gene: ZDHHC9 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799 to Mental retardation, X-linked syndromic, Raymond type, OMIM:300799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK gene was demoted and this STR was added to ensure that cases are appropriately captured. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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| DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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| DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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| DDG2P v2.35 | DMPK |
Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. However, the evidence level for this expansion is high (it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1), and as DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR will be added to the panel to capture this entity and ensure that cases are detected. |
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| DDG2P v2.32 | ATP6V1A |
Arina Puzriakova Added comment: Comment on mode of inheritance: Despite the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of both biallelic and monoallelic variants in ATP6V1A. As DDG2P is a component panel of the Paediatric disorders super panel, the MOI has been updated from 'Biallelic' to 'Both mono- and biallelic' to ensure that all cases are captured. |
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| DDG2P v2.31 | ATP6V1A | Arina Puzriakova Phenotypes for gene: ATP6V1A were changed from Autosomal Recessive Cutis Laxa to Autosomal Recessive Cutis Laxa (AR); Epileptic encephalopathy, infantile or early childhood, 3 (AD) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.30 | ATAD3A |
Arina Puzriakova Added comment: Comment on mode of inheritance: Although the MOI has been set to 'Monoallelic' only, to reflect the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of biallelic variants in ATAD3A. As DDG2P is a component panel of the Paediatric disorders super panel, the MOI should be updated to 'Both mono- and biallelic' to ensure that all cases are captured. |
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| DDG2P v2.29 | SCN8A | Arina Puzriakova Phenotypes for gene: SCN8A were changed from COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.28 | POLR3B | Arina Puzriakova Phenotypes for gene: POLR3B were changed from LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694; AUTOSOMAL RECESSIVE MENTAL RETARDATION to Autosomal recessive mental retardation; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; POLR3B-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.27 | FBN2 | Sarah Leigh commented on gene: FBN2: It would appear from PMIDs 33571691, 25558065 & 28383543 that biallelic variants should be considered for this gene and as such the MOI should be changed to BOTH monallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.27 | FBN2 | Sarah Leigh Phenotypes for gene: FBN2 were changed from CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.23 | BBS1 | Sarah Leigh Phenotypes for gene: BBS1 were changed from BARDET-BIEDL SYNDROME TYPE 1 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.22 | ADPRHL2 | Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.21 | ARMC4 | Catherine Snow Tag new-gene-name tag was added to gene: ARMC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.21 | ARMC4 | Catherine Snow commented on gene: ARMC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.19 | CLP1 | Sarah Leigh Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.13 | SOX3 | Arina Puzriakova Phenotypes for gene: SOX3 were changed from MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY 300123; SEX REVERSAL TYPE 3 300833 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.12 | PIGQ | Sarah Leigh Added comment: Comment on phenotypes: According to Joanna Peas-Welch (OMIM), Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) will replace Epileptic encephalopathy, early infantile, 77, 618548 as the name for this phenotype (12/11/2020). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.12 | PIGQ | Sarah Leigh Phenotypes for gene: PIGQ were changed from SEVERE EARLY-ONSET EPILEPSY to Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.11 | MFSD2A | Arina Puzriakova Phenotypes for gene: MFSD2A were changed from MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486 to Microcephaly 15, primary, autosomal recessive, 616486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | ABCC9 | Tracy Lester reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 31575858; Phenotypes: mild ID, similar facies, myopathy, cerebral white matter hyperintensities, cardiac systolic dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.9 | SLC12A6 | Sarah Leigh commented on gene: SLC12A6: Associated with Agenesis of the corpus callosum with peripheral neuropathy 218000 in OMIM and as confirmed Gen2Phen gene. At least 10 biallelic variants were reported in at least 10 unrelated cases. 9/10 of these variants was terminating (PMID 12368912, 16606917, 17893295). Three de novo heterozygous missense variants have been identified in four unrelated cases with a milder phenotype of early- onset progressive Charcot- Marie-tooth disease (CMT) with or without spasticity (intermediate CMT)(PMID 31439721, 27485015). The authors of PMID 31439721 suggest that "autosomal- dominant inheritance of SLC12A6 variants also needs to be considered in patients with early- onset neuropathies". Furthermore, it will be important to understand the functional differences between the variants, as PMID 27485015 reported variant - p.Thr991Ala, resulted in increased potassium influx in Xenopus oocytes (gain-of-function), while the other missense variants identified so far had a loss-of-function effect in varying degrees (PMID 31439721). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.2 | Rebecca Foulger Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.181 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.180 | SHOX | Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.177 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.175 | EDAR | Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.174 | EDAR | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'BIALLELIC' to 'BOTH AD+AR' to match recent DDG2P update, and to be consistent with OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.174 | EDAR | Rebecca Foulger Mode of inheritance for gene: EDAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.170 | KDM6B | Rebecca Foulger Phenotypes for gene: KDM6B were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; KDM6B-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.167 | KDM6B |
Rebecca Foulger commented on gene: KDM6B: Updated rating from Red to Amber to match current DDG2P ratings: DDG2P rating of probable for KDM6B-related developmental disorder (monoallelic): monoallelic, loss of function. DDG2P rating of possible for AUTOSOMAL RECESSIVE MENTAL RETARDATION: biallelic, all missense/in frame. |
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| DDG2P v1.167 | FBN1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both monoallelic and biallelic' to 'MONOALLELIC' to match current DDG2P Allelic requirement, which is 'monoallelic' for confirmed MARFAN SYNDROME, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.166 | EMC1 | Rebecca Foulger Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.; Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic; Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.165 | EMC1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH Monoallelic and biallelic' to just 'BIALLELIC' to match MOI of highest rated disorder (Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.164 | EMC1 |
Rebecca Foulger commented on gene: EMC1: As of November 26th 2019, DDG2P ratings are: probable for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic (biallelic, loss of function). possible for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic (monoallelic, dominant negative). possible for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy (monoallelic, dominant negative. |
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| DDG2P v1.162 | CRYBB1 |
Rebecca Foulger changed review comment from: As of November 26th 2019: DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function); to: As of November 26th 2019: DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES (biallelic, loss of function) |
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| DDG2P v1.162 | CRYBB1 | Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC to CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.161 | CRYBB1 | Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 to CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.160 | CRYBB1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH MONOALLELIC AND BIALLELIC' to 'MONOALLELIC only, to match MOI of confirmed disorder (CATARACT 17, MULTIPLE TYPES, MONOALLELIC). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.159 | CRYBB1 |
Rebecca Foulger commented on gene: CRYBB1: As of November 26th 2019: DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function) DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function) |
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| DDG2P v1.159 | COMP | Rebecca Foulger Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; PSEUDOACHONDROPLASIA, 177170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.156 | CACNA1G |
Rebecca Foulger changed review comment from: Original DDG2P rating: possible. ; to: Original DDG2P rating for AUTOSOMAL RECESSIVE MENTAL RETARDATION: possible. Allelic requirement: biallelic. Mutation consequence: loss of function. |
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| DDG2P v1.156 | CACNA1G | Rebecca Foulger Phenotypes for gene: CACNA1G were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; CACNA1G-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.154 | SIM1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'both MONOALLELIC and BIALLELIC' to just 'MONOALLELIC' to match the Monoallelic MOI of SIM1 on the 'Severe early-onset obesity' panel v2.0. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | WDFY3 |
Rebecca Foulger gene: WDFY3 was added gene: WDFY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WDFY3 were set to 31327001 Phenotypes for gene: WDFY3 were set to Primary Microcephaly or macrocephaly with developmental delay |
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| DDG2P v1.151 | SMPD4 |
Rebecca Foulger gene: SMPD4 was added gene: SMPD4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to 31495489 Phenotypes for gene: SMPD4 were set to Developmental Disorder with Microcephaly and Congenital Arthrogryposis |
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| DDG2P v1.151 | MYRF |
Rebecca Foulger gene: MYRF was added gene: MYRF was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to 31069960; 29446546; 30532227; 30070761 Phenotypes for gene: MYRF were set to Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome |
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| DDG2P v1.151 | KCNA4 |
Rebecca Foulger gene: KCNA4 was added gene: KCNA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: KCNA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNA4 were set to KCN4 related abnormal striatum, congenital cataract and intellectual disability. Mode of pathogenicity for gene: KCNA4 was set to Other - please provide details in the comments |
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| DDG2P v1.151 | DACT1 |
Rebecca Foulger gene: DACT1 was added gene: DACT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: DACT1 was set to Publications for gene: DACT1 were set to 28054444; 22610794 Phenotypes for gene: DACT1 were set to Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems |
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| DDG2P v1.151 | CDH2 |
Rebecca Foulger gene: CDH2 was added gene: CDH2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH2 were set to 31650526; 31585109 Phenotypes for gene: CDH2 were set to Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects Mode of pathogenicity for gene: CDH2 was set to Other - please provide details in the comments |
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| DDG2P v1.150 | NUP107 | Rebecca Foulger Phenotypes for gene: NUP107 were changed from EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME 7, 618348; EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.148 | NUP107 | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME: confirmed. DDG2P Mutation consequence: loss of function. DDG2P Allelic requirement: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.146 | FAM58A | Rebecca Foulger commented on gene: FAM58A: The Gene2Phenotype allelic requirement for STAR SYNDROME has been updated to x-linked dominant, to match the recent update in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.146 | ACTL6B | Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.142 | FAM58A | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to X-linked dominant. Although monoallelic inheritance is currently listed in DDG2P for STAR SYNDROME, FAM58A is an X-linked gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.141 | FAM58A | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. Gene symbol used in Original DD-G2P gene list is CCNQ.; to: Original DDG2P rating: confirmed for STAR SYNDROME. Gene symbol used in Original DD-G2P gene list is CCNQ. DDG2P allelic requirement: monoallelic. Mutation consequence: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.136 | SMAD4 | Rebecca Foulger Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.135 | ALX4 | Rebecca Foulger Phenotypes for gene: ALX4 were changed from PARIETAL FORAMINA 2 221704; FRONTONASAL DYSPLASIA 2 605420 to PARIETAL FORAMINA 2 609597; FRONTONASAL DYSPLASIA 2 613451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.134 | SALL4 | Rebecca Foulger Phenotypes for gene: SALL4 were changed from ACRO-RENAL-OCULAR SYNDROME 217001; DUANE-RADIAL RAY SYNDROME 173212 to ACRO-RENAL-OCULAR SYNDROME 607323; DUANE-RADIAL RAY SYNDROME 607323 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.132 | ARID1B | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed (for all listed disorders). ; to: Original DDG2P rating: confirmed (for both disorders: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900; COFFIN SIRIS SYNDROME 135900). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.132 | ARID1B | Rebecca Foulger Phenotypes for gene: ARID1B were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 614562; COFFIN SIRIS SYNDROME to MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900; COFFIN SIRIS SYNDROME 135900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | KARS | Rebecca Foulger commented on gene: KARS: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SMCHD1 | Rebecca Foulger commented on gene: SMCHD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Isolated Arhinia/Bosma Arhinia syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ALDOB | Rebecca Foulger commented on gene: ALDOB: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HEREDITARY FRUCTOSE INTOLERANCE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | DARS2 | Rebecca Foulger commented on gene: DARS2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ATP13A2 | Rebecca Foulger commented on gene: ATP13A2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PARKINSON DISEASE 9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ANO5 | Rebecca Foulger commented on gene: ANO5: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SYNE1 | Rebecca Foulger commented on gene: SYNE1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | LDB3 | Rebecca Foulger commented on gene: LDB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CARDIOMYOPATHY DILATED TYPE 1C; LEFT VENTRICULAR NON-COMPACTION TYPE 3; MYOPATHY MYOFIBRILLAR TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | AGXT | Rebecca Foulger commented on gene: AGXT: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | GJB3 | Rebecca Foulger commented on gene: GJB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SMAD4 | Rebecca Foulger commented on gene: SMAD4: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JUVENILE POLYPOSIS SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | AR | Rebecca Foulger commented on gene: AR: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ANDROGEN INSENSITIVITY SYNDROME; SPINAL AND BULBAR MUSCULAR ATROPHY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | FMR1 | Rebecca Foulger commented on gene: FMR1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | CDH1 | Rebecca Foulger commented on gene: CDH1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Blepharo-cheiro-dontic syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | POLD1 | Rebecca Foulger commented on gene: POLD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM . | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | MYH8 | Rebecca Foulger commented on gene: MYH8: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DISTAL ARTHROGRYPOSIS TYPE; CARNEY COMPLEX VARIANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | LMNA | Rebecca Foulger commented on gene: LMNA: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LETHAL TIGHT SKIN CONTRACTURE SYNDROME; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE;HUTCHINSON-GILFORD PROGERIA SYNDROME; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED;CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SLC4A1 | Rebecca Foulger commented on gene: SLC4A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AR; RENAL TUBULAR ACIDOSIS, DISTAL, AD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | TARS | Rebecca Foulger reviewed gene: TARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | SMARCD1 | Rebecca Foulger reviewed gene: SMARCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | TARS |
Rebecca Foulger gene: TARS was added gene: TARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TARS were set to 31374204 Phenotypes for gene: TARS were set to Non-photosensitive trichothiodystrophy |
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| DDG2P v1.129 | LEMD2 |
Rebecca Foulger gene: LEMD2 was added gene: LEMD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LEMD2 were set to 30905398 Phenotypes for gene: LEMD2 were set to Nuclear Envelopathy with Early Progeroid Appearance Mode of pathogenicity for gene: LEMD2 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | BNC2 |
Rebecca Foulger gene: BNC2 was added gene: BNC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BNC2 were set to 31051115 Phenotypes for gene: BNC2 were set to Congenital Lower Urinary Tract Obstruction |
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| DDG2P v1.129 | B3GAT3 |
Rebecca Foulger gene: B3GAT3 was added gene: B3GAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GAT3 were set to 31438591 Phenotypes for gene: B3GAT3 were set to MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600 Mode of pathogenicity for gene: B3GAT3 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | SMARCD1 |
Rebecca Foulger gene: SMARCD1 was added gene: SMARCD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCD1 were set to 30879640 Phenotypes for gene: SMARCD1 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: SMARCD1 was set to Other - please provide details in the comments |
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| DDG2P v1.129 | GOT2 |
Rebecca Foulger gene: GOT2 was added gene: GOT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOT2 were set to 31422819 Phenotypes for gene: GOT2 were set to Malate-Aspartate Shuttle-Related Encephalopathy Mode of pathogenicity for gene: GOT2 was set to Other - please provide details in the comments |
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| DDG2P v1.126 | MYH6 | Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.126 | MYH6 | Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder).; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.126 | MYH6 | Rebecca Foulger Phenotypes for gene: MYH6 were changed from CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 160710 to CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 614089 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.121 | ACTL6B | Rebecca Foulger Added comment: Comment on list classification: Updated rating of ACTL6B from Red to Green, to match 'confirmed' rating of new DDG2P disorder: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.120 | ACTL6B | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP from 'Other' to default, since the confirmed (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) disorder has loss of function listed as the DDG2P mutation consequence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.119 | ACTL6B | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to BIALLELIC to match the MOI of the confirmed disorder. Only the new biallelic disorder (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) has a 'confirmed' rating. Both monoallelic disorders have 'possible' ratings. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.118 | ACTL6B |
Rebecca Foulger commented on gene: ACTL6B: Two new gene:disorder associations added to DDG2P for ACTL6B, September 2019: New gene:disorder association: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function; DDG2P allelic requirement: biallelic. New gene:disorder association: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS. Disease confidence rating in DDG2P: possible. DDG2P mutation consequence: all missense/in frame; DDG2P allelic requirement: monoallelic. |
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| DDG2P v1.117 | ACTL6B | Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder to Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.116 | FAT4 | Rebecca Foulger Phenotypes for gene: FAT4 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to PERIVENTRICULAR NEURONAL HETEROTOPIA; HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006; VAN MALDERGEM SYNDROME 615546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.115 | FAT4 | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for PERIVENTRICULAR NEURONAL HETEROTOPIA: confirmed. DDG2P Mutation consequence: loss of function; DDG2P allelic requirement: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.109 | FLNA | Rebecca Foulger commented on gene: FLNA: New gene:disorder association added to DDG2P, September 2019: PERIVENTRICULAR NODULAR HETEROTOPIA 1. Disease confidence rating in DDG2P: confirmed; DDG2P mutation consequence: loss of function. DDG2P mode of inheritance: x-linked dominant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.109 | FLNA | Rebecca Foulger Phenotypes for gene: FLNA were changed from FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244 to PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049; FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.108 | CLIC2 | Rebecca Foulger Phenotypes for gene: CLIC2 were changed from Mental retardation, X-linked, syndromic 32 to Mental retardation, X-linked, syndromic 32 300886 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.106 | GDI1 | Rebecca Foulger Phenotypes for gene: GDI1 were changed from MENTAL RETARDATION X-LINKED TYPE 48 300104; MENTAL RETARDATION X-LINKED TYPE 41 300104 to MENTAL RETARDATION X-LINKED TYPE 48 300849; MENTAL RETARDATION X-LINKED TYPE 41 300849 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.104 | TPM2 | Rebecca Foulger Phenotypes for gene: TPM2 were changed from ARTHROGRYPOSIS, DISTAL, TYPE 1 to ARTHROGRYPOSIS, DISTAL, TYPE 1 108120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.101 | ABL1 | Rebecca Foulger Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations 617602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.96 | MITF | Rebecca Foulger Phenotypes for gene: MITF were changed from Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.95 | LAMA1 | Rebecca Foulger Phenotypes for gene: LAMA1 were changed from CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY; AUTOSOMAL RECESSIVE MENTAL RETARDATION to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960; AUTOSOMAL RECESSIVE MENTAL RETARDATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.94 | ITPR1 | Rebecca Foulger Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome to SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome 206700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.92 | FGFR1 | Rebecca Foulger Phenotypes for gene: FGFR1 were changed from PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis to PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome 615465; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis 613001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.87 | CRYGD | Rebecca Foulger Phenotypes for gene: CRYGD were changed from CATARACT CONGENITAL CERULEAN TYPE 3 608983; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700 to CATARACT CONGENITAL CERULEAN TYPE 3 115700; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.86 | CRYAA | Rebecca Foulger Phenotypes for gene: CRYAA were changed from CATARACT, NUCLEAR 123580; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 123580 to CATARACT, NUCLEAR 123580; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.83 | CDH3 | Rebecca Foulger Phenotypes for gene: CDH3 were changed from EEM SYNDROME 280238; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 to EEM SYNDROME 225280; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | ARSE | Louise Daugherty Tag new-gene-name tag was added to gene: ARSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | ARSE | Louise Daugherty commented on gene: ARSE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | HARS | Louise Daugherty Tag new-gene-name tag was added to gene: HARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | HARS | Louise Daugherty commented on gene: HARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | CARS | Louise Daugherty Tag new-gene-name tag was added to gene: CARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | CARS | Louise Daugherty commented on gene: CARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | IARS | Louise Daugherty Tag new-gene-name tag was added to gene: IARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | IARS | Louise Daugherty commented on gene: IARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | QARS | Louise Daugherty Tag new-gene-name tag was added to gene: QARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | QARS | Louise Daugherty commented on gene: QARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | KARS | Louise Daugherty Tag new-gene-name tag was added to gene: KARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | KARS | Louise Daugherty commented on gene: KARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | AARS | Louise Daugherty Tag new-gene-name tag was added to gene: AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | AARS | Louise Daugherty commented on gene: AARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | DARS | Louise Daugherty Tag new-gene-name tag was added to gene: DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.80 | DARS | Louise Daugherty commented on gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.78 | PIH1D3 | Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF.; to: Original DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | KARS |
Rebecca Foulger Source Expert Review Green was added to KARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.77 | DARS2 |
Rebecca Foulger Source Expert Review Green was added to DARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.77 | AR |
Rebecca Foulger Source Expert Review Green was added to AR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | ANO5 | Rebecca Foulger commented on gene: ANO5: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | KARS | Rebecca Foulger commented on gene: KARS: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | DARS2 | Rebecca Foulger commented on gene: DARS2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | AR | Rebecca Foulger commented on gene: AR: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.75 | PCDH19 | Rebecca Foulger Added comment: Comment on mode of inheritance: Note that the allelic requirement for PCDH19 in Gene2Phenotype is x-linked over-dominance. Note from Anna de Burca (Genomics England clinical team): PCDH19 only causes epilepsy in heterozygous females, and hemizygous males are unaffected. For the purposes of the pipeline, use 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease' to ensure that females with a variant are not missed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.74 | PCDH19 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of Inheritance from 'x-linked over dominance' to a PanelApp standardised MOI term. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.66 | FMR1 | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P mode of inheritance is hemizygous for FRAGILE X SYNDROME (confirmed); hemizygous for FRAGILE X TREMOR/ATAXIA SYNDROME (both DD and IF); x-linked dominant for PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 (both DD and IF). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.65 | EFNB1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from 'x-linked over-dominance' to standardised PanelApp term for X-linked dominant; this matches the MOI of EFNB1 on other PanelApp panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.64 | ADAR | Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.63 | ADAR | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is both monoallelic and biallelic for AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; monoallelic for DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1. Both disorders have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.63 | ADAR | Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.62 | ALDH18A1 | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is monoallelic for CUTIS LAXA, AUTOSOMAL DOMINANT 3;biallelic for MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; monoallelic for SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT. All disorders have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.61 | FBN1 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as both monoallelic (dominant negative) and biallelic (loss of function) for confirmed MARFAN SYNDROME; monoallelic for confirmed MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; monoallelic for confirmed SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.60 | GJC2 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for LEUKODYSTROPHY, HYPOMYELINATING, 2; monoallelic for LYMPHEDEMA, HEREDITARY, IC; monoallelic for SPASTIC PARAPLEGIA, 44. All disorders have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.57 | KIF1A | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is listed as monoallelic for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (all missense/in frame); biallelic for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (loss of function). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.53 | NALCN | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; biallelic for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; biallelic for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY. All diseases have a Confirmed Disease Confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.52 | PIEZO2 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for ARTHROGRYPOSIS, DISTAL, TYPE 3; biallelic for Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception. Both diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.50 | PTH1R | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for CHONDRODYSPLASIA BLOMSTRAND TYPE; biallelic for EIKEN SKELETAL DYSPLASIA; monoallelic for ANSEN METAPHYSEAL CHONDRODYSPLASIA; monoallelic for PRIMARY FAILURE OF TOOTH ERUPTION. All diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.41 | SIM1 | Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.41 | SIM1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD inheritance in OMIM for Obesity, severe (MIM:601665). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.39 | C11orf70 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the DDG2P panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | SMARCC2 | Rebecca Foulger reviewed gene: SMARCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | CARS | Rebecca Foulger reviewed gene: CARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ARL3 | Rebecca Foulger reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | TRPV6 |
Rebecca Foulger gene: TRPV6 was added gene: TRPV6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV6 were set to 29861107 Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism |
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| DDG2P v1.37 | TMEM94 |
Rebecca Foulger gene: TMEM94 was added gene: TMEM94 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM94 were set to 30526868 Phenotypes for gene: TMEM94 were set to Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism |
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| DDG2P v1.37 | SMARCC2 |
Rebecca Foulger gene: SMARCC2 was added gene: SMARCC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCC2 were set to 30580808 Phenotypes for gene: SMARCC2 were set to Syndromic Intellectual Disability and Developmental Delay |
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| DDG2P v1.37 | SEPSECS |
Rebecca Foulger gene: SEPSECS was added gene: SEPSECS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482 Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D |
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| DDG2P v1.37 | PMPCB |
Rebecca Foulger gene: PMPCB was added gene: PMPCB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCB were set to 29576218 Phenotypes for gene: PMPCB were set to Neurodegeneration in Early Childhood Mode of pathogenicity for gene: PMPCB was set to Other - please provide details in the comments |
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| DDG2P v1.37 | NDUFA6 |
Rebecca Foulger gene: NDUFA6 was added gene: NDUFA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA6 were set to 30245030 Phenotypes for gene: NDUFA6 were set to Early Onset Isolated Mitochondrial Complex I Deficiency |
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| DDG2P v1.37 | MRPS2 |
Rebecca Foulger gene: MRPS2 was added gene: MRPS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS2 were set to 29576219 Phenotypes for gene: MRPS2 were set to Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies Mode of pathogenicity for gene: MRPS2 was set to Other - please provide details in the comments |
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| DDG2P v1.37 | MAPK8IP3 |
Rebecca Foulger gene: MAPK8IP3 was added gene: MAPK8IP3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK8IP3 were set to 30612693 Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with Variable Brain Anomalies |
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| DDG2P v1.37 | GAS2L2 |
Rebecca Foulger gene: GAS2L2 was added gene: GAS2L2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS2L2 were set to 30665704 Phenotypes for gene: GAS2L2 were set to Impaired Cilia Orientation and Mucociliary Clearance |
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| DDG2P v1.37 | EXOSC9 |
Rebecca Foulger gene: EXOSC9 was added gene: EXOSC9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EXOSC9 was set to Publications for gene: EXOSC9 were set to 29727687 Phenotypes for gene: EXOSC9 were set to Cerebellar Atrophy with Spinal Motor Neuronopathy |
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| DDG2P v1.37 | CNPY3 |
Rebecca Foulger gene: CNPY3 was added gene: CNPY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNPY3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNPY3 were set to 29394991 Phenotypes for gene: CNPY3 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY |
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| DDG2P v1.37 | C11orf70 |
Rebecca Foulger gene: C11orf70 was added gene: C11orf70 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: C11orf70 was set to Publications for gene: C11orf70 were set to 29727693; 29727692 Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA |
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| DDG2P v1.37 | CARS |
Rebecca Foulger gene: CARS was added gene: CARS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARS were set to 30824121 Phenotypes for gene: CARS were set to Microcephaly Developmental Delay and Brittle Hair and Nails |
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| DDG2P v1.37 | ARL3 |
Rebecca Foulger gene: ARL3 was added gene: ARL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 30269812 Phenotypes for gene: ARL3 were set to JOUBERT SYNDROME, 614615 Mode of pathogenicity for gene: ARL3 was set to Other - please provide details in the comments |
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| DDG2P v1.36 | NR2F2 | Rebecca Foulger Phenotypes for gene: NR2F2 were changed from Congenital heart defects, multiple types, 4, 615779; CONGENITAL HEART DEFECTS and XX sex reversal to CONGENITAL HEART DEFECTS and XX sex reversal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.34 | XYLT1 | Rebecca Foulger commented on gene: XYLT1: Added 'watchlist' tag to highlight different DD-G2P Disease confidence ratings for different disorders: Rated confirmed for DESBUQUOIS DYSPLASIA 2. Rated probable for 'Baratela Scott Syndrome (added to Gene2Phenotype, March 2019). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.34 | XYLT1 | Rebecca Foulger commented on gene: XYLT1: New gene:disorder association added to DDG2P in March 2019: Baratela Scott Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: cis-regulatory or promotor mutation. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.34 | XYLT1 | Rebecca Foulger Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 615777 to DESBUQUOIS DYSPLASIA 2 615777; Baratela Scott Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.33 | TRAF7 | Rebecca Foulger commented on gene: TRAF7: Kept 'watchlist' tag when adding in new DD-G2P gene-disorder from March 2019; although DDG2P has multiple ratings (probable and confirmed), the three disorders are very similar (Developmental Delay Congenital Anomalies and Dysmorphic Features, Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Developmental delay, congenital malformations and dysmorphism). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.32 | TRAF7 | Rebecca Foulger commented on gene: TRAF7: New gene:disorder association added to DDG2P in March 2019: Developmental Delay Congenital Anomalies and Dysmorphic Features. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.30 | POLR3A | Rebecca Foulger commented on gene: POLR3A: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Wiedemann Rautenstrauch Syndrome. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.30 | PCGF2 | Rebecca Foulger commented on gene: PCGF2: Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.30 | PCGF2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green to reflect 'confirmed' disorder added to Gene2Phenotype in March 2019 (Craniofacial Neurological Cardiovascular and Skeletal). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.29 | PCGF2 | Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.29 | PCGF2 | Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.25 | NFIB | Rebecca Foulger commented on gene: NFIB: New gene:disorder association added to DDG2P in March 2019: Intellectual Disability and Macrocephaly. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. Note that at the time of curation, the existing disorder 'Intellectual Disability and macrocephaly' exists in DD-G2P as a separate entry. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.25 | MYH3 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the newly-added disorder (Recessive Spondylocarpotarsal Synostosis Syndrome) has a biallelic MOI, I have kept the PanelApp MOI as 'monoallelic' to reflect the confirmed disease ratings (for DISTAL ARTHROGRYPOSIS TYPE 2A 193700 and DISTAL ARTHROGRYPOSIS TYPE 2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.24 | MYH3 | Rebecca Foulger commented on gene: MYH3: Added 'watchlist' tag to reflect multiple ratings for different G2P disorders: confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A, confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B, probable for Recessive Spondylocarpotarsal Synostosis Syndrome (added to G2P in March 2019). Kept rating as Green to reflect highest Disease Confidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.24 | MYH3 | Rebecca Foulger commented on gene: MYH3: New gene:disorder association added to DDG2P in March 2019: Recessive Spondylocarpotarsal Synostosis Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.23 | MYH3 | Rebecca Foulger Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680 to DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.22 | LRRC56 | Rebecca Foulger commented on gene: LRRC56: Curated updates to DD-G2P from March 2019 for 'Mucociliary Clearance and Laterality Defects'. Allelic requirement is now biallelic. Mutation consequence is now 'loss of function'. The Disease confidence rating remains as probable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.22 | LRRC56 | Rebecca Foulger Added comment: Comment on mode of inheritance: Added biallelic MOI to reflect the updated MOI in DD-G2P for Mucociliary Clearance and Laterality Defects (previously the MOI was missing). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.20 | KCNK4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect 'probable' disease confidence for 'Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth' added to DD-G2P in March 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.19 | KCNK4 | Rebecca Foulger commented on gene: KCNK4: New gene:disorder association added to DDG2P in March 2019: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.18 | FBXO11 | Rebecca Foulger commented on gene: FBXO11: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P for different disorders: Rated 'possible' for FBXO11 related intellectual disability. Rated 'confirmed' for Variable Neurodevelopmental Disorder. Both disorders have monoallelic MOI and 'loss of function' MOP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.18 | FBXO11 | Rebecca Foulger Added comment: Comment on list classification: Changed rating from Red to Green to reflect new 'confirmed' gene-disorder association added to DD-G2P in March 2019: Variable Neurodevelopmental Disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.17 | FBXO11 | Rebecca Foulger Phenotypes for gene: FBXO11 were changed from FBXO11 related intellectual disability to FBXO11 related intellectual disability; Variable Neurodevelopmental Disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.16 | FBXO11 | Rebecca Foulger commented on gene: FBXO11: New gene:disorder association added to DDG2P in March 2019: Variable Neurodevelopmental Disorder. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.15 | DSTYK | Rebecca Foulger Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805 to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805; Autosomal Recessive Complicated Spastic Paraparesis SPG23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.14 | DSTYK | Rebecca Foulger commented on gene: DSTYK: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P: Confirmed for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1. Probable for Autosomal Recessive Complicated Spastic Paraparesis SPG23 (Added to G2P in March 2019). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.14 | DSTYK | Rebecca Foulger commented on gene: DSTYK: Multiple MOIs in Gene2Phenotype: 'monoallelic' for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, and 'biallelic' for Autosomal Recessive Complicated Spastic Paraparesis SPG23. Kept MOI in PanelApp as 'monoallelic' because 'CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1' is 'confirmed', and Autosomal Recessive Complicated Spastic Paraparesis SPG23 is 'probable'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.14 | DSTYK | Rebecca Foulger commented on gene: DSTYK: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.14 | COG4 | Rebecca Foulger commented on gene: COG4: New gene:disorder association added to DDG2P in March 2019: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. (Note that Saul-Wilson syndrome disorder was already associated with COG4 in DD-G2P but with a 'gain of function' MOP. The new entry exists in addition). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.12 | CACNA1E | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on new 'confirmed' gene-disease association added to DD-G2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. At the time of curation, the existing disorder (Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia) still has the DD-G2P Disease confidence of 'possible'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.11 | CACNA1E | Rebecca Foulger commented on gene: CACNA1E: New gene:disorder association added to DDG2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: activating. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.10 | TTN | Rebecca Foulger commented on gene: TTN: PMID:29691892 identify 30 patients from 27 families with 2 pathogenic TTN variants in trans. All patients had prenatal or early onset hypotonia and/or congenital contractures. Cardiac involvement was present in 46% of patients. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.9 | TTN | Rebecca Foulger commented on gene: TTN: PMID:28040389 (Fernández-Marmiesse et al 2017) report a newborn boy, first child of non-consanguineous parents with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement. The individual had a novel homozygous truncating variant c.38661_38665del in TTN, which is expressed only in the fetal skeletal isoform. A fetal ultrasound reported Clubfoot. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.9 | TTN | Rebecca Foulger commented on gene: TTN: PMID:29575618 (Chervinsky et al 2018) evaluate a consanguineous family of Moslem Bedouin origin with lethal congenital contracture syndrome and a homozygous c.36122delC (p. P12041Lfs*20) variant in TTN. 8 affected individuals (newborns and fetuses) were studied. Six of the affecteds were diagnosed prenatally by fetal ultrasound and two were diagnosed at birth. One pregnancy was complicated with fetal hydrops, and polyhydramnios was noted in at least three affecteds. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.9 | NR2F2 | Rebecca Foulger Added comment: Comment on phenotypes: Updated Phenotype from 'CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779' to 'CONGENITAL HEART DEFECTS and XX sex reversal' to match DD-Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.9 | NR2F2 | Rebecca Foulger Phenotypes for gene: NR2F2 were changed from CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779 to Congenital heart defects, multiple types, 4, 615779; CONGENITAL HEART DEFECTS and XX sex reversal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.8 | ASCC1 | Julia Baptista reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26924529, 30327447, 28749478; Phenotypes: spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.8 | FBXW4 | Rebecca Foulger Mode of pathogenicity for gene: FBXW4 was changed from part of contiguous gene duplication to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.7 | FARS2 | Rebecca Foulger Mode of inheritance for gene: FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.6 | FARS2 | Rebecca Foulger reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.5 | FARS2 |
Rebecca Foulger gene: FARS2 was added gene: FARS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: FARS2 was set to Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011 Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency |
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| DDG2P v0.95 | ANO5 | Rebecca Foulger commented on gene: ANO5: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | PIH1D3 | Rebecca Foulger commented on gene: PIH1D3: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | AFG3L2 | Rebecca Foulger commented on gene: AFG3L2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for SPINOCEREBELLAR ATAXIA 28; ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | FMR1 | Rebecca Foulger commented on gene: FMR1: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SMAD4 | Rebecca Foulger commented on gene: SMAD4: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 also rated 'confirmed' for MYHRE SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SYNE1 | Rebecca Foulger commented on gene: SYNE1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' forNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SMCHD1 | Rebecca Foulger commented on gene: SMCHD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Isolated Arhinia/Bosma Arhinia syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SLC4A1 | Rebecca Foulger commented on gene: SLC4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | POLD1 | Rebecca Foulger commented on gene: POLD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | MYH8 | Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | MYH6 | Rebecca Foulger commented on gene: MYH6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | LMNA | Rebecca Foulger commented on gene: LMNA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | LDB3 | Rebecca Foulger commented on gene: LDB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C; MYOPATHY MYOFIBRILLAR TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | KARS | Rebecca Foulger commented on gene: KARS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | GJB3 | Rebecca Foulger commented on gene: GJB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | DARS2 | Rebecca Foulger commented on gene: DARS2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | CDH1 | Rebecca Foulger commented on gene: CDH1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Blepharo-cheiro-dontic syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM;ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | ATP13A2 | Rebecca Foulger commented on gene: ATP13A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PARKINSON DISEASE 9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | AR | Rebecca Foulger commented on gene: AR: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | ALDOB | Rebecca Foulger commented on gene: ALDOB: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HEREDITARY FRUCTOSE INTOLERANCE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | AGXT | Rebecca Foulger commented on gene: AGXT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | KARS |
Rebecca Foulger Source Expert Review Amber was added to KARS. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.94 | DARS2 |
Rebecca Foulger Source Expert Review Amber was added to DARS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.94 | AR |
Rebecca Foulger Source Expert Review Amber was added to AR. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.93 | UFC1 | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for UFC1 Disease: Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.90 | EDAR | Rebecca Foulger Added comment: Comment on mode of inheritance: At the time of curation, no MOI is listed in DD-G2P for EDAR. Note that in OMIM, Ectodermal dysplasia is associated with both recessive (MIM:224900) and dominant (MIM:129490) inheritance. However, have set MOI to 'biallelic' to match the current DD-G2P disorder name (Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.90 | EDAR | Rebecca Foulger Mode of inheritance for gene: EDAR was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | TWIST2 | Rebecca Foulger edited their review of gene: TWIST2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ABLEPHARON MACROSTOMIA SYNDROME. MOI is monoallelic for ABLEPHARON MACROSTOMIA SYNDROME and biallelic for SETLEIS SYNDROME; changed MOI from 'both monoallelic and biallelic' to monoallelic, to match confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | TBCE | Rebecca Foulger edited their review of gene: TBCE: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; KENNY-CAFFEY SYNDROME TYPE 1.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | MITF | Rebecca Foulger edited their review of gene: MITF: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is monoallelic for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is biallelic for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; changed MOI to monoallelic to match confirmed disorders only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | MAFB | Rebecca Foulger edited their review of gene: MAFB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | LRP2 | Rebecca Foulger edited their review of gene: LRP2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for DONNAI-BARROW SYNDROME. MOI is biallelic for DONNAI-BARROW SYNDROME and monoallelic for INTELLECTUAL DISABILITY: changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match biallelic confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | IFIH1 | Rebecca Foulger edited their review of gene: IFIH1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AICARDI-GOUTIERES SYNDROME 7.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | GJA1 | Rebecca Foulger edited their review of gene: GJA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | FBN1 | Rebecca Foulger edited their review of gene: FBN1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | DEAF1 | Rebecca Foulger edited their review of gene: DEAF1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | CRYGD | Rebecca Foulger edited their review of gene: CRYGD: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3. ; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | CRYGC | Rebecca Foulger edited their review of gene: CRYGC: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | CRYBA4 | Rebecca Foulger edited their review of gene: CRYBA4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT ZONULAR TYPE 2.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | CRADD | Rebecca Foulger commented on gene: CRADD: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Megalencephaly with Variant Lissencephaly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | ATAD3A | Rebecca Foulger edited their review of gene: ATAD3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for monoallelic ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Changed MOI from 'both monoallelic and biallelic' to just monoallelic, because the biallelic ATAD3A disorder has a 'probable' DDG2P disease confidence.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | ACTB | Rebecca Foulger edited their review of gene: ACTB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BARAITSER-WINTER SYNDROME.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.50 | SMARCB1 | Rebecca Foulger commented on gene: SMARCB1: MOP for EHMT1-like SYNDROME: all missense/in frame. Rating for EHMT1-like SYNDROME: confirmed. MOI for EHMT1-like SYNDROME: monoallelic. MOP for RHABDOID PREDISPOSITION SYNDROME 1: loss of function. Rating for RHABDOID PREDISPOSITION SYNDROME 1: confirmed. MOI for RHABDOID PREDISPOSITION SYNDROME 1: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.49 | DNMT3A | Rebecca Foulger Phenotypes for gene: DNMT3A were changed from Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879; Microcephalic primordial dwarfism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.47 | CDKN1C | Rebecca Foulger commented on gene: CDKN1C: DDG2P update (curated 15th January 2019): MOI currently listed as 'imprinted' for both 'BECKWITH-WIEDEMANN SYNDROME' and IMAGe Syndrome. MOP curerntly listed as 'loss of function' for 'BECKWITH-WIEDEMANN SYNDROME' and 'gain of function' for 'IMAGe Syndrome'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.43 | H3F3A | Rebecca Foulger Added comment: Comment on list classification: Removed H3F3A from the DDG2P panel, as it is no longer listed in the DD-G2P download (January 7th 2018) and now has no disorder associated with it in Gene2Phenotype. It was originally added to the panel because it appeared in the DD-G2P download on November 6th 2018 associated with Craniofacial with neurodevelopment disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.30 | ARID1B | Rebecca Foulger Publications for gene: ARID1B were set to 22426309; 22426308; 22405089 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.29 | SMARCB1 | Rebecca Foulger Phenotypes for gene: SMARCB1 were changed from ?COFFIN-SIRIS SYNDROME 135900; RHABDOID PREDISPOSITION SYNDROME 1 609322 to EHMT1-like SYNDROME; RHABDOID PREDISPOSITION SYNDROME 1 609322 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.28 | SMARCB1 | Rebecca Foulger Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.25 | MAF | Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to: Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to reflect DD-G2P update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.25 | MAF | Rebecca Foulger Phenotypes for gene: MAF were changed from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 to Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.24 | FLNA | Rebecca Foulger commented on gene: FLNA: DDG2P update, curated January 8th 2019: MOP for RONTOMETAPHYSEAL DYSPLASIA changed from 'uncertain' to 'gain of function'.No MOP change curated in PanelApp, because mechanism is listed as loss of function for some (but not all) DD-G2P disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.24 | NFIA | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect DD-G2P update. Previously rated Amber based on a 'possible' DD-G2P rating for CHROMOSOME 1P32-P31 DELETION SYNDROME. Now (January 8th 2019) rated Probable for 'Macrocephaly with intellectual disability'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.22 | Louise Daugherty Panel types changed to GMS Rare Disease; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.21 | Ellen McDonagh Panel types changed to GMS Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.18 | LRRC56 |
Rebecca Foulger gene: LRRC56 was added gene: LRRC56 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LRRC56 was set to Phenotypes for gene: LRRC56 were set to Mucociliary Clearance and Laterality Defects |
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| DDG2P v0.16 | KLHL7 | Rebecca Foulger Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa; Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.15 | SLC25A4 | Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Fontaine progeroid syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.14 | DNMT3A | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber while panel is V0 and unreviewed, based on DDG2P rating for newly added disorder: Rated confirmed by DDG2P for Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), formerly called OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879. Rated probable by DDG2P for Microcephalic primordial dwarfism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.13 | DNMT3A | Rebecca Foulger Phenotypes for gene: DNMT3A were changed from OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 to Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) 615879; Microcephalic primordial dwarfism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | SLC25A4 | Rebecca Foulger edited their review of gene: SLC25A4: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Fontaine progeroid syndrome. Rated probable in DDG2P for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome. DG2P mode of pathogenicity for both Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, and Fontaine progeroid syndrome: all missense/in frame.; Changed publications: 30329211; Changed phenotypes: Fontaine progeroid syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | KLHL7 | Rebecca Foulger edited their review of gene: KLHL7: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. Rated probable in DDG2P for both Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa, and Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOI listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOP listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa.; Changed phenotypes: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.9 | DNMT3A | Rebecca Foulger edited their review of gene: DNMT3A: Added comment: New gene:disorder association added to DDG2P on 06/11/2018: Microcephalic primordial dwarfism. Multiple DDG2P ratings: Rated confirmed for OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879 and rated probable for Microcephalic primordial dwarfism. Multiple MOPs in DDG2P: gain of function for Microcephalic primordial dwarfism, and loss of function for OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879.; Changed phenotypes: Microcephalic primordial dwarfism; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | C2orf71 | Rebecca Foulger commented on gene: C2orf71: Added new-gene-name tag, new approved HGNC gene symbol is PCARE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | MTMR14 | Rebecca Foulger commented on gene: MTMR14: polygenic tag added: In DD-G2P download, digenic MOI listed for CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | PIK3CA | Rebecca Foulger commented on gene: PIK3CA: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918, HEMIMEGALENCEPHALY PIK3CA and MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | GNA14 | Rebecca Foulger commented on gene: GNA14: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Congenital vascular tumours. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.3 | GNAS | Rebecca Foulger commented on gene: GNAS: Mosaicism tag added: In DD-G2P download, mosaic MOI listed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | STAR | Rebecca Foulger reviewed gene: STAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SPARC | Rebecca Foulger reviewed gene: SPARC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCE1 | Rebecca Foulger reviewed gene: SMARCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCB1 | Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCAL1 | Rebecca Foulger reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCA4 | Rebecca Foulger reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SMARCA2 | Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SCARF2 | Rebecca Foulger reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RARS2 | Rebecca Foulger reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RARB | Rebecca Foulger reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | QARS | Rebecca Foulger reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PRKAR1A | Rebecca Foulger reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PARP1 | Rebecca Foulger reviewed gene: PARP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PARN | Rebecca Foulger reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LARS2 | Rebecca Foulger reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LARP7 | Rebecca Foulger reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LARGE1 | Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KARS | Rebecca Foulger reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IARS2 | Rebecca Foulger reviewed gene: IARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IARS | Rebecca Foulger reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HARS | Rebecca Foulger reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAR1 | Rebecca Foulger reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERMARD | Rebecca Foulger reviewed gene: ERMARD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EDAR | Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DARS2 | Rebecca Foulger reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DARS | Rebecca Foulger reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CARS2 | Rebecca Foulger reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARX | Rebecca Foulger reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARSE | Rebecca Foulger reviewed gene: ARSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARSB | Rebecca Foulger reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARSA | Rebecca Foulger reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARMC9 | Rebecca Foulger reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARMC4 | Rebecca Foulger reviewed gene: ARMC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARL6 | Rebecca Foulger reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARL14EP | Rebecca Foulger reviewed gene: ARL14EP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARID2 | Rebecca Foulger reviewed gene: ARID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARID1B | Rebecca Foulger reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARID1A | Rebecca Foulger reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARHGEF9 | Rebecca Foulger reviewed gene: ARHGEF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARHGEF6 | Rebecca Foulger reviewed gene: ARHGEF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARHGAP31 | Rebecca Foulger reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARG1 | Rebecca Foulger reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARFGEF2 | Rebecca Foulger reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARCN1 | Rebecca Foulger reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AR | Rebecca Foulger reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ADAR | Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AARS | Rebecca Foulger reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZNF711 |
Rebecca Foulger gene: ZNF711 was added gene: ZNF711 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZNF711 were set to 19377476 Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED 300803 |
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| DDG2P v0.1 | ZNF526 |
Rebecca Foulger gene: ZNF526 was added gene: ZNF526 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF526 were set to 21937992 Phenotypes for gene: ZNF526 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ZNF526 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ZMYND10 |
Rebecca Foulger gene: ZMYND10 was added gene: ZMYND10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZMYND10 were set to 23891471 Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22 615444 |
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| DDG2P v0.1 | ZFYVE26 |
Rebecca Foulger gene: ZFYVE26 was added gene: ZFYVE26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to 11342696; 19805727; 18098276; 17661097 Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 270700 |
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| DDG2P v0.1 | ZDHHC9 |
Rebecca Foulger gene: ZDHHC9 was added gene: ZDHHC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZDHHC9 were set to 17436253; 26000327 Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799 |
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| DDG2P v0.1 | ZDHHC15 |
Rebecca Foulger gene: ZDHHC15 was added gene: ZDHHC15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZDHHC15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZDHHC15 were set to 15915161 Phenotypes for gene: ZDHHC15 were set to MENTAL RETARDATION X-LINKED TYPE 91 300577 |
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| DDG2P v0.1 | ZCCHC8 |
Rebecca Foulger gene: ZCCHC8 was added gene: ZCCHC8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZCCHC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZCCHC8 were set to 21937992 Phenotypes for gene: ZCCHC8 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | ZC4H2 | Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 for gene: ZC4H2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ZC4H2 |
Rebecca Foulger gene: ZC4H2 was added gene: ZC4H2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZC4H2 were set to 4039531; 1915520; 23623388 Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 |
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| DDG2P v0.1 | ZBTB40 |
Rebecca Foulger gene: ZBTB40 was added gene: ZBTB40 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB40 were set to 21937992 Phenotypes for gene: ZBTB40 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | ZBTB16 |
Rebecca Foulger gene: ZBTB16 was added gene: ZBTB16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZBTB16 were set to SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447 Mode of pathogenicity for gene: ZBTB16 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | YWHAG |
Rebecca Foulger gene: YWHAG was added gene: YWHAG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YWHAG were set to 28777935 Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy Mode of pathogenicity for gene: YWHAG was set to Other - please provide details in the comments |
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| DDG2P v0.1 | YAP1 |
Rebecca Foulger gene: YAP1 was added gene: YAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YAP1 were set to 24462371 Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 120433 |
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| DDG2P v0.1 | XYLT2 |
Rebecca Foulger gene: XYLT2 was added gene: XYLT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26027496 Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME 605822 |
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| DDG2P v0.1 | XRCC4 |
Rebecca Foulger gene: XRCC4 was added gene: XRCC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC4 were set to 25728776 Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM 615272 |
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| DDG2P v0.1 | WWOX |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 616211 for gene: WWOX Publications for gene WWOX were changed from 24369382 to 24456803 |
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| DDG2P v0.1 | WWOX |
Rebecca Foulger gene: WWOX was added gene: WWOX was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WWOX were set to 24369382 Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 614322 |
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| DDG2P v0.1 | WDR81 |
Rebecca Foulger gene: WDR81 was added gene: WDR81 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR81 were set to 21885617 Phenotypes for gene: WDR81 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 610185 Mode of pathogenicity for gene: WDR81 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WDR62 |
Rebecca Foulger gene: WDR62 was added gene: WDR62 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR62 were set to 21834044; 10573015; 20890279; 20729831; 20890278 Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317 |
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| DDG2P v0.1 | WDR45B |
Rebecca Foulger gene: WDR45B was added gene: WDR45B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR45B were set to 21937992 Phenotypes for gene: WDR45B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: WDR45B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | WDPCP |
Rebecca Foulger gene: WDPCP was added gene: WDPCP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15 209900 |
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| DDG2P v0.1 | VSX2 |
Rebecca Foulger gene: VSX2 was added gene: VSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092 |
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| DDG2P v0.1 | VRK1 |
Rebecca Foulger gene: VRK1 was added gene: VRK1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to 19646678; 21937992 Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 |
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| DDG2P v0.1 | VPS33B |
Rebecca Foulger gene: VPS33B was added gene: VPS33B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164 |
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| DDG2P v0.1 | VLDLR |
Rebecca Foulger gene: VLDLR was added gene: VLDLR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VLDLR were set to 18043714; 18326629; 16080122 Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 224050 |
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| DDG2P v0.1 | VIPAS39 |
Rebecca Foulger gene: VIPAS39 was added gene: VIPAS39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404 |
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| DDG2P v0.1 | USP9X | Rebecca Foulger Added phenotypes MENTAL RETARDATION, X-LINKED 99 300919 for gene: USP9X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | USP9X |
Rebecca Foulger gene: USP9X was added gene: USP9X was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: USP9X were set to 24607389; 26833328 Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99 300919 |
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| DDG2P v0.1 | UPF3B |
Rebecca Foulger gene: UPF3B was added gene: UPF3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: UPF3B were set to 17704778 Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 300676 |
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| DDG2P v0.1 | UNC80 |
Rebecca Foulger gene: UNC80 was added gene: UNC80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC80 were set to 26708751; 26708753 Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability |
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| DDG2P v0.1 | UGT1A1 |
Rebecca Foulger gene: UGT1A1 was added gene: UGT1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGT1A1 were set to 11968090; 9039987; 9497253; 9295054 Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I 218800 |
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| DDG2P v0.1 | UFM1 |
Rebecca Foulger gene: UFM1 was added gene: UFM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to 29868776 Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly, |
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| DDG2P v0.1 | UFC1 |
Rebecca Foulger gene: UFC1 was added gene: UFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UFC1 was set to Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly |
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| DDG2P v0.1 | UBR7 |
Rebecca Foulger gene: UBR7 was added gene: UBR7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBR7 were set to 21937992 Phenotypes for gene: UBR7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: UBR7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | UBR1 |
Rebecca Foulger gene: UBR1 was added gene: UBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBR1 were set to 16311597; 19006206; 18553553 Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME 243800 |
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| DDG2P v0.1 | UBE3B |
Rebecca Foulger gene: UBE3B was added gene: UBE3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE3B were set to 21567902; 23200864 Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION 615057 |
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| DDG2P v0.1 | UBE2A |
Rebecca Foulger gene: UBE2A was added gene: UBE2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION 319562 |
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| DDG2P v0.1 | TWIST2 |
Rebecca Foulger gene: TWIST2 was added gene: TWIST2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TWIST2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWIST2 were set to 26119818 Phenotypes for gene: TWIST2 were set to ABLEPHARON MACROSTOMIA SYNDROME 200110 |
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| DDG2P v0.1 | TUSC3 |
Rebecca Foulger gene: TUSC3 was added gene: TUSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUSC3 were set to 18455129; 21739581 Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 611093 |
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| DDG2P v0.1 | TUBGCP6 |
Rebecca Foulger gene: TUBGCP6 was added gene: TUBGCP6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP6 were set to 22279524 Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION 251270 |
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| DDG2P v0.1 | TUBB3 |
Rebecca Foulger gene: TUBB3 was added gene: TUBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB3 were set to 20074521 Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 600638 Mode of pathogenicity for gene: TUBB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TTN |
Rebecca Foulger gene: TTN was added gene: TTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 17444505 Phenotypes for gene: TTN were set to CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705 |
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| DDG2P v0.1 | TTI2 |
Rebecca Foulger gene: TTI2 was added gene: TTI2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTI2 were set to 21937992 Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: TTI2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TTC8 | Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 8 209900 for gene: TTC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TTC25 |
Rebecca Foulger gene: TTC25 was added gene: TTC25 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC25 were set to 27486780 Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization |
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| DDG2P v0.1 | TSPAN7 |
Rebecca Foulger gene: TSPAN7 was added gene: TSPAN7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TSPAN7 were set to 10449641; 10655063 Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58 300210 |
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| DDG2P v0.1 | TSEN54 |
Rebecca Foulger gene: TSEN54 was added gene: TSEN54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 |
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| DDG2P v0.1 | TSEN34 |
Rebecca Foulger gene: TSEN34 was added gene: TSEN34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Mode of pathogenicity for gene: TSEN34 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TSEN2 |
Rebecca Foulger gene: TSEN2 was added gene: TSEN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 Mode of pathogenicity for gene: TSEN2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TSEN15 |
Rebecca Foulger gene: TSEN15 was added gene: TSEN15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN15 were set to 27392077 Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly Mode of pathogenicity for gene: TSEN15 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TRPM1 |
Rebecca Foulger gene: TRPM1 was added gene: TRPM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPM1 were set to 19878917; 20300565; 19896109; 19896113 Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 613216 |
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| DDG2P v0.1 | TRMT1 |
Rebecca Foulger gene: TRMT1 was added gene: TRMT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT1 were set to 21937992 Phenotypes for gene: TRMT1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | TRIP4 |
Rebecca Foulger gene: TRIP4 was added gene: TRIP4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP4 were set to 26924529 Phenotypes for gene: TRIP4 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures |
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| DDG2P v0.1 | TRIP13 |
Rebecca Foulger gene: TRIP13 was added gene: TRIP13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP13 were set to 28553959 Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour |
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| DDG2P v0.1 | TRIM32 |
Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H 254110 for gene: TRIM32 Publications for gene TRIM32 were changed from to 11822024; 17994549 |
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| DDG2P v0.1 | TRIM32 |
Rebecca Foulger gene: TRIM32 was added gene: TRIM32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11 209900 |
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| DDG2P v0.1 | TREX1 |
Rebecca Foulger gene: TREX1 was added gene: TREX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 17357087; 16845398 Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750 |
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| DDG2P v0.1 | TRAPPC9 |
Rebecca Foulger gene: TRAPPC9 was added gene: TRAPPC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC9 were set to 22549410; 20004763; 17120046; 20004764 Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 613192 |
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| DDG2P v0.1 | TRAPPC2 |
Rebecca Foulger gene: TRAPPC2 was added gene: TRAPPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400 |
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| DDG2P v0.1 | TRAPPC11 |
Rebecca Foulger gene: TRAPPC11 was added gene: TRAPPC11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 23830518 Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 615356 |
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| DDG2P v0.1 | TRAIP |
Rebecca Foulger gene: TRAIP was added gene: TRAIP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAIP were set to 26595769 Phenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM 615272 |
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| DDG2P v0.1 | TPM2 |
Rebecca Foulger gene: TPM2 was added gene: TPM2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM2 were set to 12592607 Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1 Mode of pathogenicity for gene: TPM2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TP63 |
Rebecca Foulger Added phenotypes LIMB-MAMMARY SYNDROME 603543 for gene: TP63 Publications for gene TP63 were changed from 11528512; 11929852; 16114047; 19530185; 16724007 to 11462173 |
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| DDG2P v0.1 | TP63 |
Rebecca Foulger Added phenotypes ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260 for gene: TP63 Publications for gene TP63 were changed from 3366140; 10839977; 15736220 to 19239083; 11159940; 10886756 |
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| DDG2P v0.1 | TOE1 |
Rebecca Foulger gene: TOE1 was added gene: TOE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOE1 were set to 28092684 Phenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA |
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| DDG2P v0.1 | TNFRSF13B |
Rebecca Foulger gene: TNFRSF13B was added gene: TNFRSF13B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF13B were set to 16007086 Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500 |
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| DDG2P v0.1 | TMEM70 |
Rebecca Foulger gene: TMEM70 was added gene: TMEM70 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM70 were set to 18953340; 21147908 Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052 |
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| DDG2P v0.1 | TMEM260 |
Rebecca Foulger gene: TMEM260 was added gene: TMEM260 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM260 were set to 28318500 Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome |
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| DDG2P v0.1 | TMEM135 |
Rebecca Foulger gene: TMEM135 was added gene: TMEM135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TMEM135 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM135 were set to 21937992 Phenotypes for gene: TMEM135 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: TMEM135 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TMEM114 |
Rebecca Foulger gene: TMEM114 was added gene: TMEM114 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TMEM114 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM114 were set to 17492639 Phenotypes for gene: TMEM114 were set to CONGENITAL AND JUVENILE CATARACT 611579 |
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| DDG2P v0.1 | TMCO1 |
Rebecca Foulger gene: TMCO1 was added gene: TMCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMCO1 were set to 20018682 Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 213980 |
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| DDG2P v0.1 | TKT |
Rebecca Foulger gene: TKT was added gene: TKT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKT were set to 27259054 Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects |
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| DDG2P v0.1 | TINF2 |
Rebecca Foulger gene: TINF2 was added gene: TINF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TINF2 were set to 18252230 Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE |
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| DDG2P v0.1 | THOC2 |
Rebecca Foulger gene: THOC2 was added gene: THOC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: THOC2 were set to 26166480 Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12 300957 Mode of pathogenicity for gene: THOC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TFAP2B |
Rebecca Foulger gene: TFAP2B was added gene: TFAP2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TFAP2B were set to 11505339; 10802654; 7645594 Phenotypes for gene: TFAP2B were set to CHAR SYNDROME 169100 Mode of pathogenicity for gene: TFAP2B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TECPR2 |
Rebecca Foulger gene: TECPR2 was added gene: TECPR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to 23176824 Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS 615031 |
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| DDG2P v0.1 | TDRD7 |
Rebecca Foulger gene: TDRD7 was added gene: TDRD7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TDRD7 were set to CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4 613887 Mode of pathogenicity for gene: TDRD7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TBX3 |
Rebecca Foulger gene: TBX3 was added gene: TBX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX3 were set to 19938096; 9207801; 12116211; 12668170 Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME 181450 |
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| DDG2P v0.1 | TBX18 |
Rebecca Foulger gene: TBX18 was added gene: TBX18 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX18 were set to 26235987 Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 143400 |
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| DDG2P v0.1 | TBCE |
Rebecca Foulger Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE Publications for gene TBCE were changed from 12389028 to 27666369 |
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| DDG2P v0.1 | TBCE | Rebecca Foulger Added phenotypes HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 241410 for gene: TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TBCD |
Rebecca Foulger gene: TBCD was added gene: TBCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCD were set to 27666374; 27666370 Phenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy |
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| DDG2P v0.1 | TBC1D24 |
Rebecca Foulger gene: TBC1D24 was added gene: TBC1D24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS 614617 |
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| DDG2P v0.1 | TBC1D23 |
Rebecca Foulger gene: TBC1D23 was added gene: TBC1D23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D23 were set to 28823706; 28823707 Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia |
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| DDG2P v0.1 | TBC1D20 |
Rebecca Foulger gene: TBC1D20 was added gene: TBC1D20 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D20 were set to 24239381 Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4 |
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| DDG2P v0.1 | TAZ |
Rebecca Foulger gene: TAZ was added gene: TAZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 8630491 Phenotypes for gene: TAZ were set to BARTH SYNDROME 302060 |
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| DDG2P v0.1 | TANGO2 |
Rebecca Foulger gene: TANGO2 was added gene: TANGO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 26805782; 26805781 Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
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| DDG2P v0.1 | TAF2 |
Rebecca Foulger gene: TAF2 was added gene: TAF2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF2 were set to 21937992 Phenotypes for gene: TAF2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: TAF2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TAB2 |
Rebecca Foulger gene: TAB2 was added gene: TAB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TAB2 were set to 27479907; 20493459 Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 612863 Mode of pathogenicity for gene: TAB2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SYP |
Rebecca Foulger gene: SYP was added gene: SYP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SYP were set to 19377476 Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED 300802 |
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| DDG2P v0.1 | SYNGAP1 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 612621 for gene: SYNGAP1 Publications for gene SYNGAP1 were changed from 23708187 to 23033978; 19196676; 23161826; 21237447; 23141534 |
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| DDG2P v0.1 | SYNE1 | Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743 for gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SYNE1 |
Rebecca Foulger gene: SYNE1 was added gene: SYNE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998 |
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| DDG2P v0.1 | SYN1 |
Rebecca Foulger gene: SYN1 was added gene: SYN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS 290927 |
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| DDG2P v0.1 | STXBP1 |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 612164 for gene: STXBP1 Publications for gene STXBP1 were changed from to 18469812; 19557857 |
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| DDG2P v0.1 | STIM1 |
Rebecca Foulger gene: STIM1 was added gene: STIM1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STIM1 were set to 23332920 Phenotypes for gene: STIM1 were set to TUBULAR-AGGREGATE MYOPATHY 160565 Mode of pathogenicity for gene: STIM1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | STIL |
Rebecca Foulger gene: STIL was added gene: STIL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STIL were set to 19215732 Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7 612703 |
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| DDG2P v0.1 | STAR |
Rebecca Foulger gene: STAR was added gene: STAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAR were set to 15546900; 8634702; 16968793; 14764819; 10566637; 9141542; 7892608; 8948562; 10323391 Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA 201710 |
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| DDG2P v0.1 | STAMBP |
Rebecca Foulger gene: STAMBP was added gene: STAMBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAMBP were set to 23542699 Phenotypes for gene: STAMBP were set to MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME |
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| DDG2P v0.1 | ST3GAL3 |
Rebecca Foulger gene: ST3GAL3 was added gene: ST3GAL3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL3 were set to 21907012; 17120046 Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090 Mode of pathogenicity for gene: ST3GAL3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SRPX2 |
Rebecca Foulger gene: SRPX2 was added gene: SRPX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SRPX2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRPX2 were set to 16497722 Phenotypes for gene: SRPX2 were set to ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643 Mode of pathogenicity for gene: SRPX2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SRCAP |
Rebecca Foulger gene: SRCAP was added gene: SRCAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRCAP were set to 20358590; 22265015 Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME 136140 Mode of pathogenicity for gene: SRCAP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPTLC2 |
Rebecca Foulger gene: SPTLC2 was added gene: SPTLC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640 Mode of pathogenicity for gene: SPTLC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPTAN1 |
Rebecca Foulger gene: SPTAN1 was added gene: SPTAN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTAN1 were set to 22258530; 20493457 Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477 Mode of pathogenicity for gene: SPTAN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPG11 |
Rebecca Foulger gene: SPG11 was added gene: SPG11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 17717710; 19194956; 17322883; 18067136 Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11 604360 |
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| DDG2P v0.1 | SPEG |
Rebecca Foulger gene: SPEG was added gene: SPEG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 25087613 Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY 615959 |
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| DDG2P v0.1 | SPATA5 |
Rebecca Foulger gene: SPATA5 was added gene: SPATA5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5 were set to 26299366 Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577 |
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| DDG2P v0.1 | SPARC |
Rebecca Foulger gene: SPARC was added gene: SPARC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPARC were set to 26027498 Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII 616507 Mode of pathogenicity for gene: SPARC was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SPAG1 |
Rebecca Foulger gene: SPAG1 was added gene: SPAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPAG1 were set to 24055112 Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS. |
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| DDG2P v0.1 | SOX3 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY 300123 for gene: SOX3 Publications for gene SOX3 were changed from to 8826446 |
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| DDG2P v0.1 | SOX11 |
Rebecca Foulger gene: SOX11 was added gene: SOX11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX11 were set to 24886874; 26543203 Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 615866 Mode of pathogenicity for gene: SOX11 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SOX10 |
Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 4C 613266 for gene: SOX10 Publications for gene SOX10 were changed from 23643381 to 18348274; 9462749; 10077527; 17999358 |
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| DDG2P v0.1 | SOX10 |
Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2E 611584 for gene: SOX10 Publications for gene SOX10 were changed from 19764030; 10482261; 10762540; 11026454; 12447940 to 8911608; 18627047; 19208381; 21965087; 18348267; 20478267; 17999358 |
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| DDG2P v0.1 | SOX10 |
Rebecca Foulger gene: SOX10 was added gene: SOX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX10 were set to 19764030; 10482261; 10762540; 11026454; 12447940 Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136 |
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| DDG2P v0.1 | SOBP |
Rebecca Foulger gene: SOBP was added gene: SOBP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SOBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SOBP were set to 21035105 Phenotypes for gene: SOBP were set to MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS 613671 |
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| DDG2P v0.1 | SNX14 |
Rebecca Foulger gene: SNX14 was added gene: SNX14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA |
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| DDG2P v0.1 | SNRPB |
Rebecca Foulger gene: SNRPB was added gene: SNRPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME |
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| DDG2P v0.1 | SMCHD1 |
Rebecca Foulger gene: SMCHD1 was added gene: SMCHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMCHD1 were set to 28067909; 28067911 Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome Mode of pathogenicity for gene: SMCHD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SMARCE1 |
Rebecca Foulger gene: SMARCE1 was added gene: SMARCE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCE1 were set to 22426308 Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS 135900 Mode of pathogenicity for gene: SMARCE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SMARCB1 | Rebecca Foulger Added phenotypes ?COFFIN-SIRIS SYNDROME 135900 for gene: SMARCB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMARCB1 |
Rebecca Foulger gene: SMARCB1 was added gene: SMARCB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299 Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1 609322 |
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| DDG2P v0.1 | SMARCAL1 |
Rebecca Foulger gene: SMARCAL1 was added gene: SMARCAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCAL1 were set to 11799392; 15523612 Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900 |
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| DDG2P v0.1 | SMARCA4 |
Rebecca Foulger Added phenotypes RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325 for gene: SMARCA4 Publications for gene SMARCA4 were changed from to 20137775 |
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| DDG2P v0.1 | SMARCA4 |
Rebecca Foulger gene: SMARCA4 was added gene: SMARCA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS 135900 |
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| DDG2P v0.1 | SMARCA2 |
Rebecca Foulger Added phenotypes NICOLAIDES-BARAITSER SYNDROME 601358 for gene: SMARCA2 Publications for gene SMARCA2 were changed from 22426308 to 19606471; 22426308; 22366787 |
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| DDG2P v0.1 | SMARCA2 |
Rebecca Foulger gene: SMARCA2 was added gene: SMARCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCA2 were set to 22426308 Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS 135900 Mode of pathogenicity for gene: SMARCA2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SMAD4 | Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 for gene: SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMAD2 |
Rebecca Foulger gene: SMAD2 was added gene: SMAD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD2 were set to 23665959 Phenotypes for gene: SMAD2 were set to CONGENITAL HEART DISEASE |
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| DDG2P v0.1 | SLC9A6 |
Rebecca Foulger gene: SLC9A6 was added gene: SLC9A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC9A6 were set to 20395263; 10528855; 18342287 Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243 |
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| DDG2P v0.1 | SLC6A9 |
Rebecca Foulger gene: SLC6A9 was added gene: SLC6A9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A9 were set to 27773429 Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis |
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| DDG2P v0.1 | SLC6A3 |
Rebecca Foulger gene: SLC6A3 was added gene: SLC6A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE 319029 |
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| DDG2P v0.1 | SLC6A17 |
Rebecca Foulger gene: SLC6A17 was added gene: SLC6A17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A17 were set to 25704603 Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 616269 Mode of pathogenicity for gene: SLC6A17 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC4A4 |
Rebecca Foulger gene: SLC4A4 was added gene: SLC4A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 10545938; 11274232 Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278 |
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| DDG2P v0.1 | SLC4A1 | Rebecca Foulger Added phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590 for gene: SLC4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC4A1 |
Rebecca Foulger gene: SLC4A1 was added gene: SLC4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800 Mode of pathogenicity for gene: SLC4A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC46A1 |
Rebecca Foulger gene: SLC46A1 was added gene: SLC46A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 17446347; 20795774; 18559978; 11807405; 21333572; 11804211 Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION 229050 |
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| DDG2P v0.1 | SLC39A8 |
Rebecca Foulger gene: SLC39A8 was added gene: SLC39A8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 26637978; 26637979 Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy Mode of pathogenicity for gene: SLC39A8 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC33A1 |
Rebecca Foulger gene: SLC33A1 was added gene: SLC33A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN |
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| DDG2P v0.1 | SLC31A1 |
Rebecca Foulger gene: SLC31A1 was added gene: SLC31A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to 21937992 Phenotypes for gene: SLC31A1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: SLC31A1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC2A10 |
Rebecca Foulger gene: SLC2A10 was added gene: SLC2A10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A10 were set to 16550171; 17935213; 14569121 Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME 208050 |
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| DDG2P v0.1 | SLC25A4 |
Rebecca Foulger gene: SLC25A4 was added gene: SLC25A4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27693233 Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number Mode of pathogenicity for gene: SLC25A4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC25A24 |
Rebecca Foulger gene: SLC25A24 was added gene: SLC25A24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A24 were set to 29100094; 29100093 Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction Mode of pathogenicity for gene: SLC25A24 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC25A22 |
Rebecca Foulger gene: SLC25A22 was added gene: SLC25A22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 319213 Mode of pathogenicity for gene: SLC25A22 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SLC25A20 |
Rebecca Foulger gene: SLC25A20 was added gene: SLC25A20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 9399886; 12859414; 10384384; 10697964; 9686371 Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138 |
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| DDG2P v0.1 | SLC24A1 |
Rebecca Foulger gene: SLC24A1 was added gene: SLC24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A1 were set to 20850105 Phenotypes for gene: SLC24A1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 613830 |
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| DDG2P v0.1 | SLC22A5 |
Rebecca Foulger gene: SLC22A5 was added gene: SLC22A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805 Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140 |
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| DDG2P v0.1 | SIX6 |
Rebecca Foulger gene: SIX6 was added gene: SIX6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SIX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX6 were set to 15266624 Phenotypes for gene: SIX6 were set to MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 212550 Mode of pathogenicity for gene: SIX6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SIL1 |
Rebecca Foulger gene: SIL1 was added gene: SIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIL1 were set to 16282978; 18285827; 17026626; 20111056; 16282977 Phenotypes for gene: SIL1 were set to MARINESCO-SJOEGREN SYNDROME 248800 |
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| DDG2P v0.1 | SHH |
Rebecca Foulger Added phenotypes SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250 for gene: SHH Publications for gene SHH were changed from 12503095 to 11471164; 15103725; 12567406 |
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| DDG2P v0.1 | SH3PXD2B |
Rebecca Foulger gene: SH3PXD2B was added gene: SH3PXD2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH3PXD2B were set to 20137777; 15523657; 7158646 Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME 249420 |
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| DDG2P v0.1 | SGSH |
Rebecca Foulger gene: SGSH was added gene: SGSH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A 252900 |
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| DDG2P v0.1 | SETD5 |
Rebecca Foulger gene: SETD5 was added gene: SETD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETD5 were set to 24680889 Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 615761 |
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| DDG2P v0.1 | SELENOI |
Rebecca Foulger gene: SELENOI was added gene: SELENOI was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SELENOI was set to Publications for gene: SELENOI were set to 28052917; 29500230 Phenotypes for gene: SELENOI were set to EPT1-related complex progressive hereditary spastic paraplegia |
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| DDG2P v0.1 | SCYL1 |
Rebecca Foulger gene: SCYL1 was added gene: SCYL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL1 were set to 26581903 Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia |
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| DDG2P v0.1 | SCO2 |
Rebecca Foulger gene: SCO2 was added gene: SCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 10545952; 10749987; 18924171; 14994243 Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377 |
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| DDG2P v0.1 | SCN8A |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558 for gene: SCN8A Publications for gene SCN8A were changed from 16236810 to 22365152 |
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| DDG2P v0.1 | SCN8A |
Rebecca Foulger gene: SCN8A was added gene: SCN8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN8A were set to 16236810 Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306 |
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| DDG2P v0.1 | SCN4A |
Rebecca Foulger Added phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG 168300 for gene: SCN4A Publications for gene SCN4A were changed from 1659948; 15596759; 1659668 to 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483 |
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| DDG2P v0.1 | SCN4A |
Rebecca Foulger Added phenotypes HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500 for gene: SCN4A Publications for gene SCN4A were changed from 16890191; 10851391; 10599760; 10944223; 11591859 to 1659948; 15596759; 1659668 |
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| DDG2P v0.1 | SCN4A |
Rebecca Foulger gene: SCN4A was added gene: SCN4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN4A were set to 16890191; 10851391; 10599760; 10944223; 11591859 Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS 613345 Mode of pathogenicity for gene: SCN4A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | SCARF2 |
Rebecca Foulger gene: SCARF2 was added gene: SCARF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCARF2 were set to 21108395 Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME 600920 |
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| DDG2P v0.1 | SCAPER |
Rebecca Foulger gene: SCAPER was added gene: SCAPER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCAPER were set to 21937992 Phenotypes for gene: SCAPER were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | SAMHD1 |
Rebecca Foulger gene: SAMHD1 was added gene: SAMHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME 239588 |
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| DDG2P v0.1 | SALL4 |
Rebecca Foulger gene: SALL4 was added gene: SALL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME 217001 |
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| DDG2P v0.1 | SACS |
Rebecca Foulger gene: SACS was added gene: SACS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to 10655055 Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550 |
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| DDG2P v0.1 | RUBCN |
Rebecca Foulger gene: RUBCN was added gene: RUBCN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RUBCN were set to SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY Mode of pathogenicity for gene: RUBCN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RTN4IP1 |
Rebecca Foulger gene: RTN4IP1 was added gene: RTN4IP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTN4IP1 were set to 26593267 Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY |
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| DDG2P v0.1 | RSPH3 |
Rebecca Foulger gene: RSPH3 was added gene: RSPH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPH3 were set to 26073779 Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS |
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| DDG2P v0.1 | RSPH1 |
Rebecca Foulger gene: RSPH1 was added gene: RSPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPH1 were set to 23993197 Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS |
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| DDG2P v0.1 | RPS23 |
Rebecca Foulger gene: RPS23 was added gene: RPS23 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPS23 were set to 28257692 Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features Mode of pathogenicity for gene: RPS23 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ROR2 |
Rebecca Foulger gene: ROR2 was added gene: ROR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ROR2 were set to 10932186; 19640924; 15952209; 18831060; 10932187 Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR 268310 |
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| DDG2P v0.1 | RNU4ATAC |
Rebecca Foulger gene: RNU4ATAC was added gene: RNU4ATAC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 17666473; 21474761; 22581640; 21474760 Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710 Mode of pathogenicity for gene: RNU4ATAC was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RNASEH2C |
Rebecca Foulger gene: RNASEH2C was added gene: RNASEH2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 16845400 Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3 610329 |
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| DDG2P v0.1 | RNASEH2B |
Rebecca Foulger gene: RNASEH2B was added gene: RNASEH2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to 16845400 Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2 610181 |
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| DDG2P v0.1 | RNASEH2A |
Rebecca Foulger gene: RNASEH2A was added gene: RNASEH2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 15870678 Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4 610333 |
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| DDG2P v0.1 | RMRP |
Rebecca Foulger gene: RMRP was added gene: RMRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA 250250 |
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| DDG2P v0.1 | RIN2 |
Rebecca Foulger gene: RIN2 was added gene: RIN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIN2 were set to 19631308 Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS |
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| DDG2P v0.1 | RGS7 |
Rebecca Foulger gene: RGS7 was added gene: RGS7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RGS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RGS7 were set to 21937992 Phenotypes for gene: RGS7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | RFX6 |
Rebecca Foulger gene: RFX6 was added gene: RFX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFX6 were set to 18512226; 20148032; 19887127; 15592663 Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME 601346 |
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| DDG2P v0.1 | RETREG1 |
Rebecca Foulger gene: RETREG1 was added gene: RETREG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 19838196 Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115 |
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| DDG2P v0.1 | RBM10 |
Rebecca Foulger gene: RBM10 was added gene: RBM10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RBM10 were set to 20451169; 5410571 Phenotypes for gene: RBM10 were set to TARP SYNDROME 311900 |
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| DDG2P v0.1 | RASA1 |
Rebecca Foulger Added phenotypes CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354 for gene: RASA1 Publications for gene RASA1 were changed from 14639529 to 18363760; 14639529 |
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| DDG2P v0.1 | RASA1 |
Rebecca Foulger gene: RASA1 was added gene: RASA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RASA1 were set to 14639529 Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME 608355 |
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| DDG2P v0.1 | RARS2 |
Rebecca Foulger gene: RARS2 was added gene: RARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922 |
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| DDG2P v0.1 | RARB | Rebecca Foulger Added phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA for gene: RARB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RARB |
Rebecca Foulger gene: RARB was added gene: RARB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RARB were set to 24075189 Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA |
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| DDG2P v0.1 | RALGDS |
Rebecca Foulger gene: RALGDS was added gene: RALGDS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RALGDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RALGDS were set to 21937992 Phenotypes for gene: RALGDS were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: RALGDS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RABL6 |
Rebecca Foulger gene: RABL6 was added gene: RABL6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RABL6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RABL6 were set to 21937992 Phenotypes for gene: RABL6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: RABL6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | RAB3GAP2 |
Rebecca Foulger gene: RAB3GAP2 was added gene: RAB3GAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP2 were set to 16532399 Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME 212720 |
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| DDG2P v0.1 | RAB3GAP1 |
Rebecca Foulger gene: RAB3GAP1 was added gene: RAB3GAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP1 were set to 15696165; 10465117; 20512159; 15216543 Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1 600118 |
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| DDG2P v0.1 | RAB39B |
Rebecca Foulger gene: RAB39B was added gene: RAB39B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RAB39B were set to 11050621; 20159109; 25434005 Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271 |
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| DDG2P v0.1 | RAB18 |
Rebecca Foulger gene: RAB18 was added gene: RAB18 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB18 were set to 21473985 Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3 614222 |
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| DDG2P v0.1 | QARS |
Rebecca Foulger gene: QARS was added gene: QARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QARS were set to 24656866 Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY 615760 Mode of pathogenicity for gene: QARS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PYROXD1 |
Rebecca Foulger gene: PYROXD1 was added gene: PYROXD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 27745833 Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization |
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| DDG2P v0.1 | PXDN |
Rebecca Foulger gene: PXDN was added gene: PXDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PXDN were set to 21907015 Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA |
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| DDG2P v0.1 | PTPN11 |
Rebecca Foulger gene: PTPN11 was added gene: PTPN11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1 151100 Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PTH1R |
Rebecca Foulger gene: PTH1R was added gene: PTH1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PTH1R were set to 19061984 Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION 125350 |
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| DDG2P v0.1 | PTH |
Rebecca Foulger gene: PTH was added gene: PTH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTH were set to 2212001; 1302009; 10523031; 3005800 Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200 |
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| DDG2P v0.1 | PTF1A |
Rebecca Foulger gene: PTF1A was added gene: PTF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTF1A were set to 10507728; 21749365; 15543146 Phenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069 |
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| DDG2P v0.1 | PTDSS1 |
Rebecca Foulger gene: PTDSS1 was added gene: PTDSS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTDSS1 were set to 24241535 Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050 Mode of pathogenicity for gene: PTDSS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PRSS12 |
Rebecca Foulger gene: PRSS12 was added gene: PRSS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRSS12 were set to 12459588 Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500 |
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| DDG2P v0.1 | PRRT2 |
Rebecca Foulger gene: PRRT2 was added gene: PRRT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PRRT2 were set to 21937992 Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | PRPS1 |
Rebecca Foulger Added phenotypes ARTS SYNDROME 301835 for gene: PRPS1 Publications for gene PRPS1 were changed from 6243137; 171280; 7593598; 2423135 to 22246954; 17701896; 8498830 |
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| DDG2P v0.1 | PRPS1 |
Rebecca Foulger gene: PRPS1 was added gene: PRPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PRPS1 were set to 17701900 Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070 |
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| DDG2P v0.1 | PROP1 |
Rebecca Foulger gene: PROP1 was added gene: PROP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600 |
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| DDG2P v0.1 | PRMT9 |
Rebecca Foulger gene: PRMT9 was added gene: PRMT9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRMT9 were set to 21937992 Phenotypes for gene: PRMT9 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PRMT9 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PRMT7 |
Rebecca Foulger gene: PRMT7 was added gene: PRMT7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRMT7 were set to 26437029 Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder |
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| DDG2P v0.1 | PRKD1 |
Rebecca Foulger gene: PRKD1 was added gene: PRKD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects Mode of pathogenicity for gene: PRKD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PRKAR1A |
Rebecca Foulger gene: PRKAR1A was added gene: PRKAR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKAR1A were set to 22464252; 21651393; 22464250 Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS 101800 Mode of pathogenicity for gene: PRKAR1A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PRDM6 |
Rebecca Foulger gene: PRDM6 was added gene: PRDM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRDM6 were set to 27181681 Phenotypes for gene: PRDM6 were set to Isolated Nonsyndromic Patent Ductus Arteriosus. Mode of pathogenicity for gene: PRDM6 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PRDM12 |
Rebecca Foulger gene: PRDM12 was added gene: PRDM12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM12 were set to 26005867 Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488 |
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| DDG2P v0.1 | PPP1CB |
Rebecca Foulger gene: PPP1CB was added gene: PPP1CB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27264673 Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair Mode of pathogenicity for gene: PPP1CB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PPA2 |
Rebecca Foulger gene: PPA2 was added gene: PPA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598; 27523597 Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger Mode of pathogenicity for gene: PPA2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POU1F1 |
Rebecca Foulger gene: POU1F1 was added gene: POU1F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POU1F1 were set to 12629113; 7670563; 9626142; 2634610; 16968807; 11297581; 1472057; 15928241; 1302000; 1509262; 8768831 Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038 |
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| DDG2P v0.1 | POMT2 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 613150 for gene: POMT2 Publications for gene POMT2 were changed from 17923109 to 19138766; 17878207; 16701995; 15894594 |
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| DDG2P v0.1 | POMT2 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 613158 for gene: POMT2 Publications for gene POMT2 were changed from 19299310; 19138766; 17634419 to 17923109 |
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| DDG2P v0.1 | POMT2 |
Rebecca Foulger gene: POMT2 was added gene: POMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 19299310; 19138766; 17634419 Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 613156 |
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| DDG2P v0.1 | POMT1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1 609308 for gene: POMT1 Publications for gene POMT1 were changed from 16717220; 11053679 to 22549409; 14678799 |
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| DDG2P v0.1 | POMT1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 613155 for gene: POMT1 Publications for gene POMT1 were changed from 15037715; 11320179; 17878207; 12369018; 19299310 to 16717220; 11053679 |
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| DDG2P v0.1 | POMT1 |
Rebecca Foulger gene: POMT1 was added gene: POMT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 15037715; 11320179; 17878207; 12369018; 19299310 Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 236670 |
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| DDG2P v0.1 | POMP |
Rebecca Foulger gene: POMP was added gene: POMP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMP were set to 20226437 Phenotypes for gene: POMP were set to KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952 Mode of pathogenicity for gene: POMP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POMGNT2 |
Rebecca Foulger gene: POMGNT2 was added gene: POMGNT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT2 were set to 22958903 Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME 614830 |
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| DDG2P v0.1 | POMGNT1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 613157 for gene: POMGNT1 Publications for gene POMGNT1 were changed from 17878207; 12588800; 15236414; 11709191 to 18195152; 22419172 |
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| DDG2P v0.1 | POMGNT1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 253280 for gene: POMGNT1 Publications for gene POMGNT1 were changed from 19299310; 19067344 to 17878207; 12588800; 15236414; 11709191 |
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| DDG2P v0.1 | POMGNT1 |
Rebecca Foulger gene: POMGNT1 was added gene: POMGNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT1 were set to 19299310; 19067344 Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 613151 |
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| DDG2P v0.1 | POLR3B |
Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: POLR3B Publications for gene POLR3B were changed from to 21937992 |
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| DDG2P v0.1 | POLD1 |
Rebecca Foulger gene: POLD1 was added gene: POLD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLD1 were set to 23770608 Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM Mode of pathogenicity for gene: POLD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | POC1A |
Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM 615272 for gene: POC1A Publications for gene POC1A were changed from 22840364; 26336158; 22440536; 22840363 to 22840364; 22440536 |
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| DDG2P v0.1 | PNPT1 | Rebecca Foulger Added phenotypes HEARING LOSS for gene: PNPT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PNKP |
Rebecca Foulger gene: PNKP was added gene: PNKP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNKP were set to 20118933 Phenotypes for gene: PNKP were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402 |
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| DDG2P v0.1 | PLXND1 |
Rebecca Foulger Added phenotypes TRUNCUS ARTERIOSIS for gene: PLXND1 Publications for gene PLXND1 were changed from to 24254849 |
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| DDG2P v0.1 | PLP1 |
Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920 for gene: PLP1 Publications for gene PLP1 were changed from 8659540; 8723686; 3827224; 9056547; 11071483; 1720927; 7574457; 1707231; 2773936; 1715570; 8696336; 8786077; 1384324; 7573159; 7683951; 1605230; 2480601 to 17438221; 9489796; 8320699; 8956049; 14452137 |
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| DDG2P v0.1 | PLEC |
Rebecca Foulger gene: PLEC was added gene: PLEC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723 |
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| DDG2P v0.1 | PLCB4 |
Rebecca Foulger gene: PLCB4 was added gene: PLCB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME 602483 Mode of pathogenicity for gene: PLCB4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PLCB1 |
Rebecca Foulger gene: PLCB1 was added gene: PLCB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCB1 were set to 20833646 Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 613722 |
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| DDG2P v0.1 | PITX3 | Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT 604219 for gene: PITX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PITX3 |
Rebecca Foulger gene: PITX3 was added gene: PITX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX3 were set to 15286169 Phenotypes for gene: PITX3 were set to CATARACT POSTERIOR POLAR TYPE 4 610623 |
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| DDG2P v0.1 | PITX1 |
Rebecca Foulger gene: PITX1 was added gene: PITX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX1 were set to HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS |
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| DDG2P v0.1 | PIK3CA |
Rebecca Foulger Added phenotypes MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501 for gene: PIK3CA Publications for gene PIK3CA were changed from 22658544 to 22729224 |
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| DDG2P v0.1 | PIK3CA |
Rebecca Foulger gene: PIK3CA was added gene: PIK3CA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3CA were set to 22658544 Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918 Mode of pathogenicity for gene: PIK3CA was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIH1D3 |
Rebecca Foulger gene: PIH1D3 was added gene: PIH1D3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIH1D3 were set to 28041644 Phenotypes for gene: PIH1D3 were set to X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects |
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| DDG2P v0.1 | PIGW |
Rebecca Foulger gene: PIGW was added gene: PIGW was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 24367057 Phenotypes for gene: PIGW were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 616025 Mode of pathogenicity for gene: PIGW was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGV |
Rebecca Foulger gene: PIGV was added gene: PIGV was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGV were set to 17351347; 20802478 Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300 Mode of pathogenicity for gene: PIGV was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PIGQ |
Rebecca Foulger gene: PIGQ was added gene: PIGQ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGQ were set to 24463883 Phenotypes for gene: PIGQ were set to SEVERE EARLY-ONSET EPILEPSY |
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| DDG2P v0.1 | PIGO |
Rebecca Foulger gene: PIGO was added gene: PIGO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGO were set to 22683086 Phenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749 |
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| DDG2P v0.1 | PIEZO2 |
Rebecca Foulger gene: PIEZO2 was added gene: PIEZO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIEZO2 were set to 24726473 Phenotypes for gene: PIEZO2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 3 114300 |
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| DDG2P v0.1 | PHF8 |
Rebecca Foulger gene: PHF8 was added gene: PHF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHF8 were set to 10398231; 17594395; 16199551; 17661819 Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263 |
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| DDG2P v0.1 | PHC1 |
Rebecca Foulger gene: PHC1 was added gene: PHC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PHC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHC1 were set to 23418308 Phenotypes for gene: PHC1 were set to PRIMARY MICROCEPHALY 615414 Mode of pathogenicity for gene: PHC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PGAP3 |
Rebecca Foulger gene: PGAP3 was added gene: PGAP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP3 were set to 24439110 Phenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 615716 |
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| DDG2P v0.1 | PECR |
Rebecca Foulger gene: PECR was added gene: PECR was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PECR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PECR were set to 21937992 Phenotypes for gene: PECR were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PECR was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PDSS2 |
Rebecca Foulger gene: PDSS2 was added gene: PDSS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS2 were set to 17186472 Phenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652 |
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| DDG2P v0.1 | PDSS1 |
Rebecca Foulger gene: PDSS1 was added gene: PDSS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 17332895 Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2 614651 Mode of pathogenicity for gene: PDSS1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PCNT |
Rebecca Foulger gene: PCNT was added gene: PCNT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCNT were set to 18174396; 15372530; 19839044 Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II 210720 |
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| DDG2P v0.1 | PCDH19 |
Rebecca Foulger gene: PCDH19 was added gene: PCDH19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCDH19 was set to x-linked over-dominance Publications for gene: PCDH19 were set to 19214208; 5116697; 18469813; 19752159 Phenotypes for gene: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088 |
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| DDG2P v0.1 | PC |
Rebecca Foulger gene: PC was added gene: PC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PC were set to 12112657; 9585612; 9585002; 19306334 Phenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY 266150 |
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| DDG2P v0.1 | PAX6 |
Rebecca Foulger Added phenotypes ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700 for gene: PAX6 Publications for gene PAX6 were changed from 12721955 to 17595013; 17148041 |
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| DDG2P v0.1 | PAX6 |
Rebecca Foulger gene: PAX6 was added gene: PAX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX6 were set to 7668281 Phenotypes for gene: PAX6 were set to KERATITIS HEREDITARY 148190 |
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| DDG2P v0.1 | PAX3 |
Rebecca Foulger gene: PAX3 was added gene: PAX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX3 were set to 1347148; 1308353; 7726174; 8447316; 1303193; 1887852; 8490648; 20478267 Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1 193500 |
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| DDG2P v0.1 | PARP1 |
Rebecca Foulger gene: PARP1 was added gene: PARP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PARP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARP1 were set to 21937992 Phenotypes for gene: PARP1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: PARP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | PARN |
Rebecca Foulger gene: PARN was added gene: PARN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARN were set to 25893599 Phenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6 |
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| DDG2P v0.1 | PAK3 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 30 300558 for gene: PAK3 Publications for gene PAK3 were changed from 24556213 to 17853471; 9332663; 8826460; 18523455; 12884430 |
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| DDG2P v0.1 | P4HB |
Rebecca Foulger gene: P4HB was added gene: P4HB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: P4HB were set to 25683117 Phenotypes for gene: P4HB were set to COLE-CARPENTER SYNDROME 112240 Mode of pathogenicity for gene: P4HB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | OTOGL |
Rebecca Foulger gene: OTOGL was added gene: OTOGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTOGL were set to 23122586 Phenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS 614944 |
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| DDG2P v0.1 | OTC |
Rebecca Foulger gene: OTC was added gene: OTC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTC were set to 10405441; 3170748; 1721894; 2347583; 2843770; 1353535; 1480464; 11260212; 2035531; 9056557; 2037279; 7860064 Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250 |
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| DDG2P v0.1 | OSGEP |
Rebecca Foulger gene: OSGEP was added gene: OSGEP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to 28805828 Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly Mode of pathogenicity for gene: OSGEP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | OPHN1 |
Rebecca Foulger gene: OPHN1 was added gene: OPHN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OPHN1 were set to 12805098; 12807966; 16158428; 20528889; 9582072 Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486 |
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| DDG2P v0.1 | NYX |
Rebecca Foulger gene: NYX was added gene: NYX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NYX were set to 11062471; 16670814; 11062472 Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 310500 |
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| DDG2P v0.1 | NUP107 |
Rebecca Foulger gene: NUP107 was added gene: NUP107 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP107 were set to 26411495 Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME |
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| DDG2P v0.1 | NR2F2 |
Rebecca Foulger gene: NR2F2 was added gene: NR2F2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NR2F2 were set to 24702954 Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779 |
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| DDG2P v0.1 | NPR2 |
Rebecca Foulger gene: NPR2 was added gene: NPR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875 |
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| DDG2P v0.1 | NOTCH1 |
Rebecca Foulger gene: NOTCH1 was added gene: NOTCH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH1 were set to 16025100 Phenotypes for gene: NOTCH1 were set to LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION 109730 |
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| DDG2P v0.1 | NOG |
Rebecca Foulger Added phenotypes TARSAL-CARPAL COALITION SYNDROME 186570 for gene: NOG Publications for gene NOG were changed from 20503332; 11846737; 16532400; 3667255; 15770128 to 11545688; 4019538 |
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| DDG2P v0.1 | NKX2-5 |
Rebecca Foulger gene: NKX2-5 was added gene: NKX2-5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-5 were set to ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900 |
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| DDG2P v0.1 | NKX2-1 |
Rebecca Foulger gene: NKX2-1 was added gene: NKX2-1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA 118700 |
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| DDG2P v0.1 | NHS |
Rebecca Foulger Added phenotypes CATARACT CONGENITAL X-LINKED 302200 for gene: NHS Publications for gene NHS were changed from 15623749; 458526; 14564667; 2246772 to 19414485; 11836358 |
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| DDG2P v0.1 | NFIX |
Rebecca Foulger Added phenotypes MARSHALL-SMITH SYNDROME 602535 for gene: NFIX Publications for gene NFIX were changed from 22301465; 20673863 to 20673863 |
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| DDG2P v0.1 | NEDD4L |
Rebecca Foulger gene: NEDD4L was added gene: NEDD4L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NEDD4L were set to 23934111; 28515470; 27694961 Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly Mode of pathogenicity for gene: NEDD4L was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NDUFB11 |
Rebecca Foulger gene: NDUFB11 was added gene: NDUFB11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NDUFB11 were set to 25772934 Phenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME |
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| DDG2P v0.1 | NDST1 |
Rebecca Foulger gene: NDST1 was added gene: NDST1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NDST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDST1 were set to 21937992 Phenotypes for gene: NDST1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: NDST1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NAXE |
Rebecca Foulger gene: NAXE was added gene: NAXE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXE were set to 27616477 Phenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood |
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| DDG2P v0.1 | NALCN |
Rebecca Foulger Added phenotypes HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 615419 for gene: NALCN Publications for gene NALCN were changed from 25683120 to 23749988 |
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| DDG2P v0.1 | NAGLU |
Rebecca Foulger gene: NAGLU was added gene: NAGLU was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 12202988; 11068184; 10094189; 9832037; 8650226; 21937992 Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B 252920 |
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| DDG2P v0.1 | NACC1 |
Rebecca Foulger gene: NACC1 was added gene: NACC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NACC1 were set to 28132692 Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay Mode of pathogenicity for gene: NACC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NAA15 |
Rebecca Foulger gene: NAA15 was added gene: NAA15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NAA15 were set to 28191889; 23665959 Phenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER |
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| DDG2P v0.1 | MYT1 |
Rebecca Foulger gene: MYT1 was added gene: MYT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYT1 were set to 27358179 Phenotypes for gene: MYT1 were set to OAVS/Goldenhar syndrome |
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| DDG2P v0.1 | MYOC |
Rebecca Foulger gene: MYOC was added gene: MYOC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYOC were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 |
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| DDG2P v0.1 | MYH8 | Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 158300 for gene: MYH8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH8 |
Rebecca Foulger gene: MYH8 was added gene: MYH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT 608837 |
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| DDG2P v0.1 | MYH6 | Rebecca Foulger Added phenotypes CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251 for gene: MYH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH6 | Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1EE 613252 for gene: MYH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MYH3 |
Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 2A 193700 for gene: MYH3 Publications for gene MYH3 were changed from 16642020; 18695058 to 16642020 |
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| DDG2P v0.1 | MYH3 |
Rebecca Foulger gene: MYH3 was added gene: MYH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH3 were set to 16642020; 18695058 Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B 601680 Mode of pathogenicity for gene: MYH3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MTO1 |
Rebecca Foulger gene: MTO1 was added gene: MTO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTO1 were set to 22608499 Phenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702 |
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| DDG2P v0.1 | MTMR14 |
Rebecca Foulger gene: MTMR14 was added gene: MTMR14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MTMR14 was set to Phenotypes for gene: MTMR14 were set to CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150 Mode of pathogenicity for gene: MTMR14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MTM1 |
Rebecca Foulger gene: MTM1 was added gene: MTM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MTM1 were set to 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787 Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED 310400 |
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| DDG2P v0.1 | MSX2 |
Rebecca Foulger gene: MSX2 was added gene: MSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MSX2 were set to 14571277 Phenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550 |
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| DDG2P v0.1 | MNX1 |
Rebecca Foulger gene: MNX1 was added gene: MNX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MNX1 were set to 9843207; 15216552; 10631160; 16906559; 7550324 Phenotypes for gene: MNX1 were set to CURRARINO SYNDROME 176450 |
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| DDG2P v0.1 | MLYCD |
Rebecca Foulger gene: MLYCD was added gene: MLYCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY 167676 |
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| DDG2P v0.1 | MKS1 | Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 13 209900 for gene: MKS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MKKS | Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 6 209900 for gene: MKKS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MITF |
Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2A 193510 for gene: MITF Publications for gene MITF were changed from 8589691; 10851256 to 8490648; 8589691; 7874167; 9856573 |
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| DDG2P v0.1 | MITF |
Rebecca Foulger gene: MITF was added gene: MITF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MITF were set to 9158138 Phenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470 |
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| DDG2P v0.1 | MIR184 |
Rebecca Foulger gene: MIR184 was added gene: MIR184 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MIR184 were set to 21996275 Phenotypes for gene: MIR184 were set to EDICT SYNDROME 614303; KERATOCONUS WITH CATARACT Mode of pathogenicity for gene: MIR184 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MFSD2A |
Rebecca Foulger gene: MFSD2A was added gene: MFSD2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFSD2A were set to 26005865 Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486 Mode of pathogenicity for gene: MFSD2A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MEGF8 |
Rebecca Foulger gene: MEGF8 was added gene: MEGF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF8 were set to CARPENTER SYNDROME 201000 |
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| DDG2P v0.1 | MEGF10 |
Rebecca Foulger gene: MEGF10 was added gene: MEGF10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEGF10 were set to 22101682; 17236770; 22371254 Phenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA 614399 |
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| DDG2P v0.1 | MEF2C |
Rebecca Foulger gene: MEF2C was added gene: MEF2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MEF2C were set to 20513142; 23001426; 19592390 Phenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443 |
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| DDG2P v0.1 | MED23 |
Rebecca Foulger gene: MED23 was added gene: MED23 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED23 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249 Mode of pathogenicity for gene: MED23 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055 for gene: MECP2 Publications for gene MECP2 were changed from 15689435 to 9377804; 12615169; 16966553; 10232754; 11007980; 11807877 |
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| DDG2P v0.1 | MECP2 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260 for gene: MECP2 Publications for gene MECP2 were changed from 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091 to 15689435 |
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| DDG2P v0.1 | MECOM |
Rebecca Foulger gene: MECOM was added gene: MECOM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MECOM were set to 26581901 Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Mode of pathogenicity for gene: MECOM was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MDH2 |
Rebecca Foulger gene: MDH2 was added gene: MDH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDH2 were set to 27989324 Phenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy |
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| DDG2P v0.1 | MCPH1 |
Rebecca Foulger gene: MCPH1 was added gene: MCPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCPH1 were set to 12046007; 7693575; 11857108; 16311745; 20978018 Phenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1 251200 |
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| DDG2P v0.1 | MCCC2 |
Rebecca Foulger gene: MCCC2 was added gene: MCCC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210 |
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| DDG2P v0.1 | MCCC1 |
Rebecca Foulger gene: MCCC1 was added gene: MCCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200 |
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| DDG2P v0.1 | MAP3K7 |
Rebecca Foulger gene: MAP3K7 was added gene: MAP3K7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP3K7 were set to 27426734 Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome Mode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAP2K2 |
Rebecca Foulger gene: MAP2K2 was added gene: MAP2K2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: MAP2K2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAP2K1 |
Rebecca Foulger gene: MAP2K1 was added gene: MAP2K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: MAP2K1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAN1B1 |
Rebecca Foulger gene: MAN1B1 was added gene: MAN1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN1B1 were set to 26577042; 24348268; 21763484; 24566669; 26279649; 21937992 Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: MAN1B1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | MAGT1 |
Rebecca Foulger gene: MAGT1 was added gene: MAGT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAGT1 were set to 18455129 Phenotypes for gene: MAGT1 were set to MENTAL RETARDATION X-LINKED TYPE 95 300716 |
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| DDG2P v0.1 | MAGI2 |
Rebecca Foulger gene: MAGI2 was added gene: MAGI2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAGI2 were set to 18565486 Phenotypes for gene: MAGI2 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY |
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| DDG2P v0.1 | MAGEL2 |
Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA for gene: MAGEL2 Publications for gene MAGEL2 were changed from 27195816; 24076603 to 26365340 |
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| DDG2P v0.1 | MAFB |
Rebecca Foulger Added phenotypes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects for gene: MAFB Publications for gene MAFB were changed from 22387013 to 27181683 |
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| DDG2P v0.1 | MAFB |
Rebecca Foulger gene: MAFB was added gene: MAFB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAFB were set to 22387013 Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300 |
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| DDG2P v0.1 | MAF | Rebecca Foulger Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 4 610202 for gene: MAF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAF |
Rebecca Foulger Added phenotypes CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202 for gene: MAF Publications for gene MAF were changed from to 16470690; 11772997 |
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| DDG2P v0.1 | MAF |
Rebecca Foulger gene: MAF was added gene: MAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAF were set to CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES Mode of pathogenicity for gene: MAF was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LTBP2 |
Rebecca Foulger Added phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086 for gene: LTBP2 Publications for gene LTBP2 were changed from 20617341; 22025892; 20179738 to 19656777; 19361779 |
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| DDG2P v0.1 | LRRC6 |
Rebecca Foulger gene: LRRC6 was added gene: LRRC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC6 were set to 23122589 Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA 614935 |
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| DDG2P v0.1 | LRP2 | Rebecca Foulger Added phenotypes DONNAI-BARROW SYNDROME 222448 for gene: LRP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRIT3 |
Rebecca Foulger gene: LRIT3 was added gene: LRIT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIT3 were set to 23246293 Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS 615058 |
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| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes HEART-HAND SYNDROME SLOVENIAN TYPE 610140 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LMNA |
Rebecca Foulger gene: LMNA was added gene: LMNA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to CARDIOMYOPATHY DILATED TYPE 1A 115200 |
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| DDG2P v0.1 | LIPT1 |
Rebecca Foulger gene: LIPT1 was added gene: LIPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT1 were set to 24341803; 27247813; 24256811 Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Mode of pathogenicity for gene: LIPT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LIPN |
Rebecca Foulger gene: LIPN was added gene: LIPN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPN were set to 21439540 Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4 613943 |
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| DDG2P v0.1 | LINS1 |
Rebecca Foulger gene: LINS1 was added gene: LINS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LINS1 were set to 21937992 Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | LHX4 |
Rebecca Foulger gene: LHX4 was added gene: LHX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135 |
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| DDG2P v0.1 | LHX3 |
Rebecca Foulger gene: LHX3 was added gene: LHX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LHX3 were set to 18407919; 17327381; 10835633 Phenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750 |
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| DDG2P v0.1 | LGI4 |
Rebecca Foulger gene: LGI4 was added gene: LGI4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI4 were set to 28318499 Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA |
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| DDG2P v0.1 | LGI1 |
Rebecca Foulger gene: LGI1 was added gene: LGI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LGI1 were set to AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES 600512 |
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| DDG2P v0.1 | LDB3 | Rebecca Foulger Added phenotypes MYOPATHY MYOFIBRILLAR TYPE 4 609452 for gene: LDB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LDB3 | Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1C 601493 for gene: LDB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LDB3 |
Rebecca Foulger gene: LDB3 was added gene: LDB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LDB3 were set to LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493 Mode of pathogenicity for gene: LDB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LARS2 |
Rebecca Foulger gene: LARS2 was added gene: LARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS2 were set to 23541342 Phenotypes for gene: LARS2 were set to PERRAULT SYNDROME Mode of pathogenicity for gene: LARS2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | LARP7 |
Rebecca Foulger gene: LARP7 was added gene: LARP7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARP7 were set to 26374271; 21937992; 26607181 Phenotypes for gene: LARP7 were set to ALAZAMI SYNDROME 615071 |
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| DDG2P v0.1 | LARGE1 |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 608840 for gene: LARGE1 Publications for gene LARGE1 were changed from 19299310; 19067344; 17436019 to 12966029; 21248746 |
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| DDG2P v0.1 | LARGE1 |
Rebecca Foulger gene: LARGE1 was added gene: LARGE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to 19299310; 19067344; 17436019 Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154 |
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| DDG2P v0.1 | LAMB1 |
Rebecca Foulger gene: LAMB1 was added gene: LAMB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB1 were set to COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES 615191 |
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| DDG2P v0.1 | LAMA2 |
Rebecca Foulger gene: LAMA2 was added gene: LAMA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA2 were set to 9158149; 12601554; 18700894; 16216942; 7550355; 11071490; 12552556; 11591858 Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY 607855 |
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| DDG2P v0.1 | LAMA1 |
Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: LAMA1 Publications for gene LAMA1 were changed from 25105227 to 21937992 |
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| DDG2P v0.1 | LAMA1 |
Rebecca Foulger gene: LAMA1 was added gene: LAMA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 25105227 Phenotypes for gene: LAMA1 were set to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY |
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| DDG2P v0.1 | L2HGDH |
Rebecca Foulger gene: L2HGDH was added gene: L2HGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 19911013; 15385440 Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA 236792 |
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| DDG2P v0.1 | L1CAM |
Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350 for gene: L1CAM Publications for gene L1CAM were changed from 26916325 to 7920659; 7920660; 3460961 |
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| DDG2P v0.1 | L1CAM |
Rebecca Foulger Added phenotypes PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100 for gene: L1CAM Publications for gene L1CAM were changed from 8929944; 15148591; 18136715; 9279760; 8401593; 8401576; 15368500; 1303258; 7881431; 7920659; 9643285; 11857550 to 26916325 |
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| DDG2P v0.1 | L1CAM |
Rebecca Foulger gene: L1CAM was added gene: L1CAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: L1CAM were set to 7920659; 7920660; 3460961 Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350 |
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| DDG2P v0.1 | KRAS |
Rebecca Foulger gene: KRAS was added gene: KRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRAS were set to CARDIOFACIOCUTANEOUS SYNDROME 115150 Mode of pathogenicity for gene: KRAS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KMT2B |
Rebecca Foulger gene: KMT2B was added gene: KMT2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2B were set to 27992417; 27839873 Phenotypes for gene: KMT2B were set to Complex early-onset dystonia |
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| DDG2P v0.1 | KLHL7 |
Rebecca Foulger gene: KLHL7 was added gene: KLHL7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL7 were set to 27392078 Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa Mode of pathogenicity for gene: KLHL7 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KLF8 |
Rebecca Foulger gene: KLF8 was added gene: KLF8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KLF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF8 were set to 22495311 Phenotypes for gene: KLF8 were set to NONSYNDROMIC MENTAL RETARDATION |
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| DDG2P v0.1 | KITLG |
Rebecca Foulger gene: KITLG was added gene: KITLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KITLG were set to 26522471 Phenotypes for gene: KITLG were set to WAARDENBURG SYNDROME TYPE 2 Mode of pathogenicity for gene: KITLG was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIRREL3 |
Rebecca Foulger gene: KIRREL3 was added gene: KIRREL3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KIRREL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIRREL3 were set to 19012874 Phenotypes for gene: KIRREL3 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 612581 Mode of pathogenicity for gene: KIRREL3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KIF7 |
Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: KIF7 Publications for gene KIF7 were changed from to 21937992 |
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| DDG2P v0.1 | KIF1A | Rebecca Foulger Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213 for gene: KIF1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KIF1A |
Rebecca Foulger Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213 for gene: KIF1A Publications for gene KIF1A were changed from 21376300 to 21820098 |
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| DDG2P v0.1 | KIF1A |
Rebecca Foulger gene: KIF1A was added gene: KIF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KIF1A were set to 21376300 Phenotypes for gene: KIF1A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255 |
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| DDG2P v0.1 | KIDINS220 |
Rebecca Foulger gene: KIDINS220 was added gene: KIDINS220 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIDINS220 were set to 27005418 Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity. |
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| DDG2P v0.1 | KDM6B |
Rebecca Foulger gene: KDM6B was added gene: KDM6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDM6B were set to 21937992 Phenotypes for gene: KDM6B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: KDM6B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KDM5C |
Rebecca Foulger gene: KDM5C was added gene: KDM5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KDM5C were set to 18203167; 19826449; 18697827; 21575681; 15586325; 16538222; 10982473 Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED 300534 |
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| DDG2P v0.1 | KDM5A |
Rebecca Foulger gene: KDM5A was added gene: KDM5A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KDM5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDM5A were set to 21937992 Phenotypes for gene: KDM5A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: KDM5A was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCTD1 |
Rebecca Foulger gene: KCTD1 was added gene: KCTD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCTD1 were set to 23541344 Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME Mode of pathogenicity for gene: KCTD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNT1 |
Rebecca Foulger gene: KCNT1 was added gene: KCNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNT1 were set to 23086397 Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Mode of pathogenicity for gene: KCNT1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNQ2 |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720 for gene: KCNQ2 Publications for gene KCNQ2 were changed from 11572947; 9425895; 15249611; 16235065; 11175290; 9430594; 17872363; 10323247 to 22275249; 12742592 |
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| DDG2P v0.1 | KCNMA1 |
Rebecca Foulger gene: KCNMA1 was added gene: KCNMA1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNMA1 were set to 15937479 Phenotypes for gene: KCNMA1 were set to GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446 Mode of pathogenicity for gene: KCNMA1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNK9 |
Rebecca Foulger gene: KCNK9 was added gene: KCNK9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: KCNK9 were set to BIRK-BAREL SYNDROME 612292 Mode of pathogenicity for gene: KCNK9 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNJ10 |
Rebecca Foulger gene: KCNJ10 was added gene: KCNJ10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ10 were set to 20651251; 19289823; 19420365; 21849804 Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE 612780 |
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| DDG2P v0.1 | KCNH1 |
Rebecca Foulger gene: KCNH1 was added gene: KCNH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH1 were set to 25420144 Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME 611816 Mode of pathogenicity for gene: KCNH1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNC3 |
Rebecca Foulger gene: KCNC3 was added gene: KCNC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13 605259 Mode of pathogenicity for gene: KCNC3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KCNB1 |
Rebecca Foulger gene: KCNB1 was added gene: KCNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNB1 were set to 25164438 Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056 Mode of pathogenicity for gene: KCNB1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | KAT6B |
Rebecca Foulger Added phenotypes GENITOPATELLAR SYNDROME 606170 for gene: KAT6B Publications for gene KAT6B were changed from to 12210330; 12949978; 16761293; 12210329; 22265014 |
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| DDG2P v0.1 | KAT6B |
Rebecca Foulger gene: KAT6B was added gene: KAT6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KAT6B were set to BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE |
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| DDG2P v0.1 | KAT6A |
Rebecca Foulger gene: KAT6A was added gene: KAT6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KAT6A were set to 25728775; 30245513 Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 616268 |
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| DDG2P v0.1 | KARS |
Rebecca Foulger Added phenotypes DEAFNESS, AUTOSOMAL RECESSIVE 89 613916 for gene: KARS Publications for gene KARS were changed from 20920668 to 23768514 |
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| DDG2P v0.1 | KARS |
Rebecca Foulger gene: KARS was added gene: KARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 20920668 Phenotypes for gene: KARS were set to CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641 |
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| DDG2P v0.1 | JAM3 |
Rebecca Foulger gene: JAM3 was added gene: JAM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAM3 were set to 21109224; 23255084 Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730 |
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| DDG2P v0.1 | ITPR1 |
Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360 for gene: ITPR1 Publications for gene ITPR1 were changed from 17932120 to 22986007; 27062503 |
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| DDG2P v0.1 | ITPR1 |
Rebecca Foulger gene: ITPR1 was added gene: ITPR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ITPR1 were set to 17932120 Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15 606658 |
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| DDG2P v0.1 | ITGA7 |
Rebecca Foulger gene: ITGA7 was added gene: ITGA7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA7 were set to 9590299 Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY 607855 |
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| DDG2P v0.1 | ISPD |
Rebecca Foulger gene: ISPD was added gene: ISPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to 23217329; 22522420; 22522421; 7604843; 9492098 Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME 614643 |
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| DDG2P v0.1 | IRX5 |
Rebecca Foulger gene: IRX5 was added gene: IRX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174 Mode of pathogenicity for gene: IRX5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IQSEC2 |
Rebecca Foulger gene: IQSEC2 was added gene: IQSEC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IQSEC2 were set to 3177466; 7943039; 20473311 Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 309530 Mode of pathogenicity for gene: IQSEC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | INPP5K |
Rebecca Foulger gene: INPP5K was added gene: INPP5K was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5K were set to 28190459; 28190456 Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability Mode of pathogenicity for gene: INPP5K was set to Other - please provide details in the comments |
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| DDG2P v0.1 | INPP5E |
Rebecca Foulger gene: INPP5E was added gene: INPP5E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 19668215 Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156 |
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| DDG2P v0.1 | INPP4A |
Rebecca Foulger gene: INPP4A was added gene: INPP4A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP4A were set to 21937992 Phenotypes for gene: INPP4A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | IL1RAPL1 |
Rebecca Foulger gene: IL1RAPL1 was added gene: IL1RAPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IL1RAPL1 were set to 16470793; 18801879; 10471494; 19012350 Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21 300143 |
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| DDG2P v0.1 | IGSF1 |
Rebecca Foulger gene: IGSF1 was added gene: IGSF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IGSF1 were set to 23143598 Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888 |
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| DDG2P v0.1 | IGHMBP2 |
Rebecca Foulger gene: IGHMBP2 was added gene: IGHMBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGHMBP2 were set to 11528396; 15290238 Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320 |
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| DDG2P v0.1 | IGFBP7 |
Rebecca Foulger gene: IGFBP7 was added gene: IGFBP7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGFBP7 were set to 12441727 Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 614224 |
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| DDG2P v0.1 | IGBP1 |
Rebecca Foulger gene: IGBP1 was added gene: IGBP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGBP1 were set to AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472 Mode of pathogenicity for gene: IGBP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IFIH1 |
Rebecca Foulger gene: IFIH1 was added gene: IFIH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 24995871 Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7 615846 Mode of pathogenicity for gene: IFIH1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | IDUA |
Rebecca Foulger Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H 607014 for gene: IDUA Publications for gene IDUA were changed from 10735634; 10466419; 8664897; 7550232; 9391892 to 8328452; 6821579; 7951228; 8664897; 10735634 |
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| DDG2P v0.1 | IDUA |
Rebecca Foulger Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015 for gene: IDUA Publications for gene IDUA were changed from 7550232; 4221470 to 10735634; 10466419; 8664897; 7550232; 9391892 |
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| DDG2P v0.1 | IDUA |
Rebecca Foulger gene: IDUA was added gene: IDUA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 7550232; 4221470 Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1S 607016 |
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| 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 |
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| DDG2P v0.1 | IARS2 |
Rebecca Foulger gene: IARS2 was added gene: IARS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 25130867 Phenotypes for gene: IARS2 were set to CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 616007 |
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| DDG2P v0.1 | IARS |
Rebecca Foulger gene: IARS was added gene: IARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS were set to 27426735 Phenotypes for gene: IARS were set to Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy |
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| DDG2P v0.1 | HYDIN |
Rebecca Foulger gene: HYDIN was added gene: HYDIN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYDIN were set to 14985390; 23022101 Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5 608647 |
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| DDG2P v0.1 | HYAL1 |
Rebecca Foulger gene: HYAL1 was added gene: HYAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL1 were set to 8793927 Phenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9 601492 |
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| DDG2P v0.1 | HUWE1 |
Rebecca Foulger gene: HUWE1 was added gene: HUWE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HUWE1 were set to 7943042; 18252223 Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706 Mode of pathogenicity for gene: HUWE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HTRA2 |
Rebecca Foulger gene: HTRA2 was added gene: HTRA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 27696117 Phenotypes for gene: HTRA2 were set to Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria |
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| DDG2P v0.1 | HSPG2 |
Rebecca Foulger gene: HSPG2 was added gene: HSPG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPG2 were set to 11101850; 11941538 Phenotypes for gene: HSPG2 were set to SCHWARTZ-JAMPEL SYNDROME 255800 |
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| DDG2P v0.1 | HSF4 | Rebecca Foulger Added phenotypes CATARACT ZONULAR HSF4-RELATED 116800 for gene: HSF4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HSF4 |
Rebecca Foulger gene: HSF4 was added gene: HSF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSF4 were set to 12089525 Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE 116800 Mode of pathogenicity for gene: HSF4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HSD17B10 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 300220 for gene: HSD17B10 Publications for gene HSD17B10 were changed from 16148061; 12555940; 12696021 to 10521307 |
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| DDG2P v0.1 | HR |
Rebecca Foulger Added phenotypes ATRICHIA WITH PAPULAR LESIONS 209500 for gene: HR Publications for gene HR were changed from 19897589; 10777357; 17680008 to 9856480; 10469319; 10205263; 12271294; 10051399 |
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| DDG2P v0.1 | HPGD |
Rebecca Foulger gene: HPGD was added gene: HPGD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY 259100 |
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| DDG2P v0.1 | HOXB1 |
Rebecca Foulger gene: HOXB1 was added gene: HOXB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXB1 were set to 22770981 Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3 614744 Mode of pathogenicity for gene: HOXB1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HOXA11 |
Rebecca Foulger gene: HOXA11 was added gene: HOXA11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXA11 were set to 26581901 Phenotypes for gene: HOXA11 were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia |
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| DDG2P v0.1 | HMX1 |
Rebecca Foulger gene: HMX1 was added gene: HMX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMX1 were set to 18423520 Phenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME 612109 |
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| DDG2P v0.1 | HMGCS2 |
Rebecca Foulger gene: HMGCS2 was added gene: HMGCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to 11479731; 9727719; 12647205; 11228257; 9337379 Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911 Mode of pathogenicity for gene: HMGCS2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HMGCL |
Rebecca Foulger gene: HMGCL was added gene: HMGCL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCL were set to 9463337; 8617516; 11129331 Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450 |
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| DDG2P v0.1 | HLCS |
Rebecca Foulger gene: HLCS was added gene: HLCS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018 |
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| DDG2P v0.1 | HIST3H3 |
Rebecca Foulger gene: HIST3H3 was added gene: HIST3H3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST3H3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIST3H3 were set to 21937992 Phenotypes for gene: HIST3H3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: HIST3H3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HIST1H4B |
Rebecca Foulger gene: HIST1H4B was added gene: HIST1H4B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HIST1H4B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIST1H4B were set to 21937992 Phenotypes for gene: HIST1H4B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | HGSNAT |
Rebecca Foulger gene: HGSNAT was added gene: HGSNAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 18024218; 18518886; 16960811; 20825431; 17033958 Phenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C 252930 |
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| DDG2P v0.1 | HESX1 | Rebecca Foulger Added phenotypes HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358 for gene: HESX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HDAC4 |
Rebecca Foulger gene: HDAC4 was added gene: HDAC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HDAC4 were set to 20691407 Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 600430 |
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| DDG2P v0.1 | HCN1 |
Rebecca Foulger gene: HCN1 was added gene: HCN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HCN1 were set to 24747641 Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871 Mode of pathogenicity for gene: HCN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | HCFC1 |
Rebecca Foulger gene: HCFC1 was added gene: HCFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HCFC1 were set to 1870093; 23000143 Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3 309541 |
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| DDG2P v0.1 | HARS |
Rebecca Foulger gene: HARS was added gene: HARS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS were set to 22279524 Phenotypes for gene: HARS were set to USHER SYNDROME 614504 Mode of pathogenicity for gene: HARS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GZF1 |
Rebecca Foulger gene: GZF1 was added gene: GZF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GZF1 were set to 28475863 Phenotypes for gene: GZF1 were set to LARSEN SYNDROME |
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| DDG2P v0.1 | GUSB |
Rebecca Foulger gene: GUSB was added gene: GUSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUSB were set to 12522561; 1702266; 9490302; 6811712; 7633414; 1833732; 7573038; 4265197 Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7 253220 |
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| DDG2P v0.1 | GUCY2C |
Rebecca Foulger Added phenotypes FAMILIAL DIARRHEA DIARRHEA 6 614616 for gene: GUCY2C Publications for gene GUCY2C were changed from to 22436048 |
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| DDG2P v0.1 | GTPBP3 |
Rebecca Foulger gene: GTPBP3 was added gene: GTPBP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP3 were set to 25434004 Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY |
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| DDG2P v0.1 | GRM6 |
Rebecca Foulger gene: GRM6 was added gene: GRM6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM6 were set to 15781871; 16249515; 17405131 Phenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270 |
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| DDG2P v0.1 | GRM1 |
Rebecca Foulger gene: GRM1 was added gene: GRM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM1 were set to 22901947 Phenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA 614831 |
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| DDG2P v0.1 | GRIN2B |
Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970 for gene: GRIN2B Publications for gene GRIN2B were changed from 23160955 to 20890276; 23160955; 23033978 |
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| DDG2P v0.1 | GRIK2 |
Rebecca Foulger gene: GRIK2 was added gene: GRIK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRIK2 were set to 17847003 Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092 |
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| DDG2P v0.1 | GRIA3 |
Rebecca Foulger gene: GRIA3 was added gene: GRIA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GRIA3 were set to 17989220 Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94 300699 |
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| DDG2P v0.1 | GPAA1 |
Rebecca Foulger gene: GPAA1 was added gene: GPAA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPAA1 were set to 29100095 Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia |
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| DDG2P v0.1 | GON4L |
Rebecca Foulger gene: GON4L was added gene: GON4L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GON4L were set to 21937992 Phenotypes for gene: GON4L were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | GNS |
Rebecca Foulger gene: GNS was added gene: GNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNS were set to 6450420; 17998446; 19650410; 3100754; 12624138 Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D 252940 |
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| DDG2P v0.1 | GNB5 |
Rebecca Foulger gene: GNB5 was added gene: GNB5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB5 were set to 27523599 Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability |
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| DDG2P v0.1 | GNB3 |
Rebecca Foulger gene: GNB3 was added gene: GNB3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNB3 were set to 27063057 Phenotypes for gene: GNB3 were set to GNB3 Autosomal-Recessive Congenital Stationary Night Blindness. |
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| DDG2P v0.1 | GNAS |
Rebecca Foulger Added phenotypes ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580 for gene: GNAS Publications for gene GNAS were changed from 11029463; 15592469; 18182455 to 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353 |
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| DDG2P v0.1 | GNAS | Rebecca Foulger Added phenotypes ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GNAS |
Rebecca Foulger gene: GNAS was added gene: GNAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAS were set to 11029463; 15592469; 18182455 Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233 |
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| DDG2P v0.1 | GNAI3 |
Rebecca Foulger gene: GNAI3 was added gene: GNAI3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAI3 were set to 11102934 Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME 602483 Mode of pathogenicity for gene: GNAI3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GNA14 |
Rebecca Foulger gene: GNA14 was added gene: GNA14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNA14 were set to 27476652 Phenotypes for gene: GNA14 were set to Congenital vascular tumours Mode of pathogenicity for gene: GNA14 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GMPPB |
Rebecca Foulger gene: GMPPB was added gene: GMPPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 23768512 Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350 Mode of pathogenicity for gene: GMPPB was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GMPPA |
Rebecca Foulger gene: GMPPA was added gene: GMPPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPA were set to 24035193 Phenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION |
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| DDG2P v0.1 | GMNN |
Rebecca Foulger gene: GMNN was added gene: GMNN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GMNN were set to 26637980 Phenotypes for gene: GMNN were set to Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome Mode of pathogenicity for gene: GMNN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GLE1 |
Rebecca Foulger gene: GLE1 was added gene: GLE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLE1 were set to 18204449 Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890 Mode of pathogenicity for gene: GLE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GLDN |
Rebecca Foulger gene: GLDN was added gene: GLDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDN were set to 27616481 Phenotypes for gene: GLDN were set to Lethal arthroogryposis |
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| DDG2P v0.1 | GLB1 |
Rebecca Foulger gene: GLB1 was added gene: GLB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 1928092; 11511921; 7586649; 10841810 Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B 253010 |
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| DDG2P v0.1 | GJC2 |
Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA, 44 613206 for gene: GJC2 Publications for gene GJC2 were changed from 20537300 to 19056803 |
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| DDG2P v0.1 | GJC2 |
Rebecca Foulger gene: GJC2 was added gene: GJC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJC2 were set to 20537300 Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC 613480 Mode of pathogenicity for gene: GJC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GJB3 |
Rebecca Foulger gene: GJB3 was added gene: GJB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB3 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200 |
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| DDG2P v0.1 | GJB2 |
Rebecca Foulger Added phenotypes BART-PUMPHREY SYNDROME 149200 for gene: GJB2 Publications for gene GJB2 were changed from 12372058; 10633135; 17993581; 2956987 to 15952212; 15482471 |
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| DDG2P v0.1 | GJB2 |
Rebecca Foulger Added phenotypes PALMOPLANTAR KERATODERMA WITH DEAFNESS 148350 for gene: GJB2 Publications for gene GJB2 were changed from 11556849; 15253766; 12121355; 8789457; 9471561; 9336442; 11313763; 10218527; 12239718; 9328482; 9139825; 10633133; 9819448; 10982182; 17660464 to 12372058; 10633135; 17993581; 2956987 |
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| DDG2P v0.1 | GJA8 | Rebecca Foulger Added phenotypes CATARACT-MICROCORNEA SYNDROME 116150 for gene: GJA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJA8 |
Rebecca Foulger gene: GJA8 was added gene: GJA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA8 were set to 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1 116200 Mode of pathogenicity for gene: GJA8 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GJA3 |
Rebecca Foulger gene: GJA3 was added gene: GJA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA3 were set to 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885 Mode of pathogenicity for gene: GJA3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GJA1 |
Rebecca Foulger Added phenotypes HYPOPLASTIC LEFT HEART SYNDROME 241550 for gene: GJA1 Publications for gene GJA1 were changed from 14981729 to 11470490 |
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| DDG2P v0.1 | GHR |
Rebecca Foulger gene: GHR was added gene: GHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GHR were set to 9360529; 12679461; 15001620; 2813379; 17405847; 15536163; 2779634; 8488849; 11468686; 8626815; 9851797; 9661642; 2233903; 9467570 Phenotypes for gene: GHR were set to PITUITARY DWARFISM II 262500 |
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| DDG2P v0.1 | GFER |
Rebecca Foulger gene: GFER was added gene: GFER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522 Phenotypes for gene: GFER were set to MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD 613076 |
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| DDG2P v0.1 | GDI1 | Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 48 300104 for gene: GDI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDI1 |
Rebecca Foulger gene: GDI1 was added gene: GDI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41 300104 |
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| DDG2P v0.1 | GDF1 | Rebecca Foulger Added phenotypes CONOTRUNCAL HEART MALFORMATIONS 217095 for gene: GDF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GDF1 | Rebecca Foulger Added phenotypes TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3 613854 for gene: GDF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GCDH |
Rebecca Foulger gene: GCDH was added gene: GCDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 11174631; 8900227; 10699052; 7795610; 8900228 Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1 231670 Mode of pathogenicity for gene: GCDH was set to Other - please provide details in the comments |
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| DDG2P v0.1 | GBA2 |
Rebecca Foulger gene: GBA2 was added gene: GBA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA2 were set to 23332917 Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. |
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| DDG2P v0.1 | GATM |
Rebecca Foulger gene: GATM was added gene: GATM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATM were set to 10762163 Phenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718 |
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| DDG2P v0.1 | GATA6 |
Rebecca Foulger Added phenotypes PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001 for gene: GATA6 Publications for gene GATA6 were changed from 20581743 to 22158542; 8071961 |
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| DDG2P v0.1 | GATA6 |
Rebecca Foulger gene: GATA6 was added gene: GATA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA6 were set to 20581743 Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5 614474 |
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| DDG2P v0.1 | GAS8 |
Rebecca Foulger gene: GAS8 was added gene: GAS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS8 were set to 26387594 Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA |
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| DDG2P v0.1 | GALNS |
Rebecca Foulger gene: GALNS was added gene: GALNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A 253000 |
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| DDG2P v0.1 | FYCO1 |
Rebecca Foulger gene: FYCO1 was added gene: FYCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FYCO1 were set to 21636066; 11519376 Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019 |
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| DDG2P v0.1 | FTSJ1 |
Rebecca Foulger gene: FTSJ1 was added gene: FTSJ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FTSJ1 were set to 10398246; 8288232; 15162322 Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44 309549 |
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| DDG2P v0.1 | FTO |
Rebecca Foulger gene: FTO was added gene: FTO was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to 19559399 Phenotypes for gene: FTO were set to GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938 Mode of pathogenicity for gene: FTO was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FTL |
Rebecca Foulger gene: FTL was added gene: FTL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FTL were set to 9414300; 10759702; 9292547; 7669675; 12200611; 9414313; 9226182; 7493028; 19176363; 11849230 Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886 |
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| DDG2P v0.1 | FRY |
Rebecca Foulger gene: FRY was added gene: FRY was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRY were set to 21937992 Phenotypes for gene: FRY were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | FOXP1 |
Rebecca Foulger gene: FOXP1 was added gene: FOXP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP1 were set to 20950788 Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 613670 |
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| DDG2P v0.1 | FOXL2 |
Rebecca Foulger gene: FOXL2 was added gene: FOXL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXL2 were set to 11468277; 21325395; 12400065; 12938087; 12567411; 17089161; 11175783; 12630957; 11776388; 12529855 Phenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME 110100 |
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| DDG2P v0.1 | FOXG1 |
Rebecca Foulger gene: FOXG1 was added gene: FOXG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXG1 were set to 19578037; 21441262; 19564653; 18571142 Phenotypes for gene: FOXG1 were set to CONGENITAL VARIANT OF RETT SYNDROME 613454 |
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| DDG2P v0.1 | FOXF1 |
Rebecca Foulger gene: FOXF1 was added gene: FOXF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS 265380 |
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| DDG2P v0.1 | FOXE3 |
Rebecca Foulger gene: FOXE3 was added gene: FOXE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FOXE3 were set to 11159941 Phenotypes for gene: FOXE3 were set to CONGENITAL PRIMARY APHAKIA 610256 |
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| DDG2P v0.1 | FOXE1 |
Rebecca Foulger gene: FOXE1 was added gene: FOXE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME 241850 Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FOXC2 | Rebecca Foulger Added phenotypes HEREDITARY LYMPHEDEMA II 241432 for gene: FOXC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FMR1 | Rebecca Foulger Added phenotypes PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 311360 for gene: FMR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FLNB |
Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME 150250 for gene: FLNB Publications for gene FLNB were changed from 18257094; 14991055; 18386804 to 14991055; 16801345 |
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| DDG2P v0.1 | FLNB |
Rebecca Foulger gene: FLNB was added gene: FLNB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FLNB were set to 18257094; 14991055; 18386804 Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460 |
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| DDG2P v0.1 | FLG |
Rebecca Foulger gene: FLG was added gene: FLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLG were set to 16444271; 17291859 Phenotypes for gene: FLG were set to ICHTHYOSIS VULGARIS 146700 |
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| DDG2P v0.1 | FKTN |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 253800 for gene: FKTN Publications for gene FKTN were changed from 17036286 to 10545611; 9690476; 14627679; 21228398; 12601708; 19179078; 17878207 |
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| DDG2P v0.1 | FKTN |
Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1X 611615 for gene: FKTN Publications for gene FKTN were changed from 19342235; 17044012 to 17036286 |
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| DDG2P v0.1 | FKTN |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 611588 for gene: FKTN Publications for gene FKTN were changed from to 19342235; 17044012 |
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| DDG2P v0.1 | FKTN |
Rebecca Foulger gene: FKTN was added gene: FKTN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152 |
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| DDG2P v0.1 | FKRP |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5 606612 for gene: FKRP Publications for gene FKRP were changed from 15121789 to 12654965; 17336067; 14647208; 11071142; 11592034; 14652796; 11053680 |
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| DDG2P v0.1 | FKRP |
Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 613153 for gene: FKRP Publications for gene FKRP were changed from 11741828; 14523375; 12707439; 14647208 to 15121789 |
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| DDG2P v0.1 | FKRP |
Rebecca Foulger gene: FKRP was added gene: FKRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 11741828; 14523375; 12707439; 14647208 Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 607155 |
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| DDG2P v0.1 | FKBP14 |
Rebecca Foulger gene: FKBP14 was added gene: FKBP14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS |
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| DDG2P v0.1 | FIG4 |
Rebecca Foulger Added phenotypes CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340 for gene: FIG4 Publications for gene FIG4 were changed from 17572665 to 2319578; 7496176; 23623387 |
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| DDG2P v0.1 | FIG4 |
Rebecca Foulger gene: FIG4 was added gene: FIG4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 17572665 Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228 |
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| DDG2P v0.1 | FHL1 |
Rebecca Foulger gene: FHL1 was added gene: FHL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FHL1 were set to 19716112; 18179888; 19687455 Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696 |
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| DDG2P v0.1 | FH |
Rebecca Foulger gene: FH was added gene: FH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to FUMARASE DEFICIENCY 606812 |
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| DDG2P v0.1 | FGFR3 |
Rebecca Foulger Added phenotypes CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474 for gene: FGFR3 Publications for gene FGFR3 were changed from 7773297 to 17033969 |
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| DDG2P v0.1 | FGFR2 |
Rebecca Foulger Added phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790 for gene: FGFR2 Publications for gene FGFR2 were changed from 7874170 to 19610084; 8696350 |
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| DDG2P v0.1 | FGFR1 |
Rebecca Foulger Added phenotypes Hartsfield syndrome for gene: FGFR1 Publications for gene FGFR1 were changed from 26942290 to 23812909 |
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| DDG2P v0.1 | FGD1 |
Rebecca Foulger gene: FGD1 was added gene: FGD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGD1 were set to 14560308; 20082460; 16353258; 11940089; 17152066; 11093277; 16688726; 15809997; 7954831; 10930571; 17847065 Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME 305400 |
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| DDG2P v0.1 | FBXW4 |
Rebecca Foulger gene: FBXW4 was added gene: FBXW4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBXW4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FBXW4 were set to SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560 Mode of pathogenicity for gene: FBXW4 was set to part of contiguous gene duplication |
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| DDG2P v0.1 | FBN2 |
Rebecca Foulger gene: FBN2 was added gene: FBN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527 Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 Mode of pathogenicity for gene: FBN2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FBN1 | Rebecca Foulger Added phenotypes WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FBN1 | Rebecca Foulger Added phenotypes MARFAN SYNDROME 154700 for gene: FBN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FBN1 |
Rebecca Foulger gene: FBN1 was added gene: FBN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FBN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBN1 were set to 17568394; 17366579; 16333834; 7611299; 10766875; 8136837; 1631074; 8428751; 11702223; 7762551; 8040326; 8281141; 15032979; 1301946; 1569206; 10441597; 11175294; 20979188; 8430317; 9101298; 9241263; 7911051; 9837823; 1852208; 8504310; 8101042; 21594993; 20082464; 15287423; 21594992; 18412115; 17492313; 8406497; 7633409 Phenotypes for gene: FBN1 were set to MARFAN SYNDROME 154700 |
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| DDG2P v0.1 | FBLN1 |
Rebecca Foulger gene: FBLN1 was added gene: FBLN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FBLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBLN1 were set to SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180 Mode of pathogenicity for gene: FBLN1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FAT4 |
Rebecca Foulger gene: FAT4 was added gene: FAT4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT4 were set to 24056717 Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA |
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| DDG2P v0.1 | FASN |
Rebecca Foulger gene: FASN was added gene: FASN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: FASN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASN were set to 21937992 Phenotypes for gene: FASN were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: FASN was set to Other - please provide details in the comments |
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| DDG2P v0.1 | FAR1 |
Rebecca Foulger gene: FAR1 was added gene: FAR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAR1 were set to SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS |
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| DDG2P v0.1 | FAM58A |
Rebecca Foulger gene: FAM58A was added gene: FAM58A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAM58A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FAM58A were set to 18297069; 8818947 Phenotypes for gene: FAM58A were set to STAR SYNDROME 300707 |
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| DDG2P v0.1 | EXT1 |
Rebecca Foulger gene: EXT1 was added gene: EXT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EXT1 were set to 8981950; 9326317; 15253765; 7550340 Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700 |
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| DDG2P v0.1 | EXOSC3 |
Rebecca Foulger gene: EXOSC3 was added gene: EXOSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 Mode of pathogenicity for gene: EXOSC3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ETFDH |
Rebecca Foulger gene: ETFDH was added gene: ETFDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to GLUTARIC ACIDURIA TYPE 2C 231680 |
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| DDG2P v0.1 | ETFB |
Rebecca Foulger gene: ETFB was added gene: ETFB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFB were set to GLUTARIC ACIDURIA TYPE 2B 231680 |
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| DDG2P v0.1 | ETFA |
Rebecca Foulger gene: ETFA was added gene: ETFA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 7912128; 17412732; 12815589; 19249206; 1430199; 1882842 Phenotypes for gene: ETFA were set to GLUTARIC ACIDURIA TYPE 2A 231680 |
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| DDG2P v0.1 | ERMARD |
Rebecca Foulger gene: ERMARD was added gene: ERMARD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ERMARD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERMARD were set to 24056535 Phenotypes for gene: ERMARD were set to PERIVENTRICULAR HETEROTOPIA |
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| DDG2P v0.1 | ERLIN2 |
Rebecca Foulger gene: ERLIN2 was added gene: ERLIN2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ERLIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to 21937992 Phenotypes for gene: ERLIN2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ERLIN2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ERF |
Rebecca Foulger Added phenotypes Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia for gene: ERF Publications for gene ERF were changed from 23354439 to 27738187 |
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| DDG2P v0.1 | ERCC6L2 |
Rebecca Foulger gene: ERCC6L2 was added gene: ERCC6L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6L2 were set to 24507776 Phenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2 615715 |
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| DDG2P v0.1 | ERCC4 | Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM 615272 for gene: ERCC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EPHB4 |
Rebecca Foulger gene: EPHB4 was added gene: EPHB4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPHB4 were set to 28687708; 29444212 Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2 |
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| DDG2P v0.1 | EPG5 |
Rebecca Foulger gene: EPG5 was added gene: EPG5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 3344762 Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242840 |
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| DDG2P v0.1 | ENTPD1 |
Rebecca Foulger gene: ENTPD1 was added gene: ENTPD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to 21937992 Phenotypes for gene: ENTPD1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ENTPD1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ENPP1 |
Rebecca Foulger Added phenotypes ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000 for gene: ENPP1 Publications for gene ENPP1 were changed from 20137773; 20137772 to 19206175; 15940697; 22209248; 11159191; 12881724; 15605415 |
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| DDG2P v0.1 | EMC1 | Rebecca Foulger Added phenotypes Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. for gene: EMC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EMC1 |
Rebecca Foulger gene: EMC1 was added gene: EMC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EMC1 were set to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. |
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| DDG2P v0.1 | ELP2 |
Rebecca Foulger gene: ELP2 was added gene: ELP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP2 were set to 21937992 Phenotypes for gene: ELP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ELP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ELOVL4 |
Rebecca Foulger gene: ELOVL4 was added gene: ELOVL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELOVL4 were set to 22100072 Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457 |
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| DDG2P v0.1 | ELN |
Rebecca Foulger Added phenotypes SUPRAVALVAR AORTIC STENOSIS 185500 for gene: ELN Publications for gene ELN were changed from to 11735026; 10190538; 11175284; 19844261; 10190324; 9215670; 8541862; 8132745; 9215671 |
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| DDG2P v0.1 | ELMO2 |
Rebecca Foulger gene: ELMO2 was added gene: ELMO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELMO2 were set to 27476657 Phenotypes for gene: ELMO2 were set to Intraosseous Vascular Malformation |
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| DDG2P v0.1 | ELAC2 |
Rebecca Foulger gene: ELAC2 was added gene: ELAC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELAC2 were set to 23849775; 27769300 Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY 252010 |
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| DDG2P v0.1 | EEF1B2 |
Rebecca Foulger gene: EEF1B2 was added gene: EEF1B2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EEF1B2 were set to 21937992 Phenotypes for gene: EEF1B2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | EDN1 | Rebecca Foulger Added phenotypes AURICULOCONDYLAR SYNDROME 602483 for gene: EDN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EDN1 |
Rebecca Foulger gene: EDN1 was added gene: EDN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EDN1 were set to 24268655 Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME 602483 |
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| DDG2P v0.1 | EDAR |
Rebecca Foulger gene: EDAR was added gene: EDAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EDAR was set to Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
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| DDG2P v0.1 | ECEL1 |
Rebecca Foulger gene: ECEL1 was added gene: ECEL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECEL1 were set to 23261301 Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D 615065 |
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| DDG2P v0.1 | DYRK1A |
Rebecca Foulger gene: DYRK1A was added gene: DYRK1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYRK1A were set to 21294719; 23160955; 23099646 Phenotypes for gene: DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104 |
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| DDG2P v0.1 | DYNC1H1 |
Rebecca Foulger gene: DYNC1H1 was added gene: DYNC1H1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYNC1H1 were set to 22459677 Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600 Mode of pathogenicity for gene: DYNC1H1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DSTYK |
Rebecca Foulger gene: DSTYK was added gene: DSTYK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DSTYK were set to 23862974 Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805 |
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| DDG2P v0.1 | DRC1 |
Rebecca Foulger gene: DRC1 was added gene: DRC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRC1 were set to 23354437 Phenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA 244400 |
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| DDG2P v0.1 | DPAGT1 |
Rebecca Foulger gene: DPAGT1 was added gene: DPAGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 22742743 Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750 |
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| DDG2P v0.1 | DOCK7 |
Rebecca Foulger gene: DOCK7 was added gene: DOCK7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DOCK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK7 were set to 24814191 Phenotypes for gene: DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 615859 |
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| DDG2P v0.1 | DNAJB13 |
Rebecca Foulger gene: DNAJB13 was added gene: DNAJB13 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB13 were set to 27486783 Phenotypes for gene: DNAJB13 were set to Primary Ciliary Dyskinesia and Male Infertility |
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| DDG2P v0.1 | DNAH5 |
Rebecca Foulger gene: DNAH5 was added gene: DNAH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH5 were set to 27637300 Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3 |
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| DDG2P v0.1 | DNAAF5 |
Rebecca Foulger gene: DNAAF5 was added gene: DNAAF5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAAF5 were set to 23040496 Phenotypes for gene: DNAAF5 were set to CILIARY DYSKINESIA, PRIMARY, 18 614874 Mode of pathogenicity for gene: DNAAF5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DNAAF4 |
Rebecca Foulger gene: DNAAF4 was added gene: DNAAF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAAF4 were set to 23872636 Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA |
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| DDG2P v0.1 | DNAAF3 |
Rebecca Foulger gene: DNAAF3 was added gene: DNAAF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAAF3 were set to 10745040; 22387996 Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA 606763 |
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| DDG2P v0.1 | DNA2 |
Rebecca Foulger gene: DNA2 was added gene: DNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 24389050 Phenotypes for gene: DNA2 were set to PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807 |
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| DDG2P v0.1 | DMP1 |
Rebecca Foulger gene: DMP1 was added gene: DMP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMP1 were set to 17033625; 17033621 Phenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR 241520 |
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| DDG2P v0.1 | DMD |
Rebecca Foulger Added phenotypes DUCHENNE MUSCULAR DYSTROPHY 310200 for gene: DMD Publications for gene DMD were changed from 8789442; 8361506; 9683584; 9170407 to 8301652; 1383546; 15643612; 1549596; 1307253; 10909857; 8499922; 7981590; 2071150; 1513469; 8817332; 12794683; 7951253; 1601417; 8401539; 1301174; 8364587; 8281150; 7881286; 12673664; 7581396; 17024373; 8199594; 8401582 |
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| DDG2P v0.1 | DMD |
Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045 for gene: DMD Publications for gene DMD were changed from 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470 to 8789442; 8361506; 9683584; 9170407 |
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| DDG2P v0.1 | DMD |
Rebecca Foulger gene: DMD was added gene: DMD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DMD were set to 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470 Phenotypes for gene: DMD were set to BECKER MUSCULAR DYSTROPHY 300376 |
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| DDG2P v0.1 | DLG3 |
Rebecca Foulger gene: DLG3 was added gene: DLG3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90 300189 |
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| DDG2P v0.1 | DIP2B |
Rebecca Foulger gene: DIP2B was added gene: DIP2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DIP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DIP2B were set to 17236128 Phenotypes for gene: DIP2B were set to MENTAL RETARDATION, FRA12A TYPE 136630 Mode of pathogenicity for gene: DIP2B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DGAT1 |
Rebecca Foulger gene: DGAT1 was added gene: DGAT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGAT1 were set to 23114594 Phenotypes for gene: DGAT1 were set to CONGENITAL DIARRHEAL DISORDERS |
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| DDG2P v0.1 | DEPDC5 |
Rebecca Foulger gene: DEPDC5 was added gene: DEPDC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DEPDC5 were set to 9851433; 14510823; 23542701; 15329069; 10825362; 10577924 Phenotypes for gene: DEPDC5 were set to FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364 |
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| DDG2P v0.1 | DEAF1 |
Rebecca Foulger gene: DEAF1 was added gene: DEAF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DEAF1 were set to 24726472; 21076407 Phenotypes for gene: DEAF1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828 Mode of pathogenicity for gene: DEAF1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DDX11 |
Rebecca Foulger gene: DDX11 was added gene: DDX11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX11 were set to 23033317; 20137776 Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME 613398 |
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| DDG2P v0.1 | DDHD2 |
Rebecca Foulger gene: DDHD2 was added gene: DDHD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD2 were set to 23176823 Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033 |
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| DDG2P v0.1 | DDHD1 |
Rebecca Foulger gene: DDHD1 was added gene: DDHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD1 were set to 15786464; 23176821 Phenotypes for gene: DDHD1 were set to HEREDITARY SPASTIC PARAPLEGIA 615030 |
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| DDG2P v0.1 | DDC |
Rebecca Foulger gene: DDC was added gene: DDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to 20505134 Phenotypes for gene: DDC were set to AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643 |
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| DDG2P v0.1 | DCHS1 |
Rebecca Foulger gene: DCHS1 was added gene: DCHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCHS1 were set to 24056717 Phenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA |
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| DDG2P v0.1 | DARS2 |
Rebecca Foulger gene: DARS2 was added gene: DARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS2 were set to 17384640 Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105 |
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| DDG2P v0.1 | DARS |
Rebecca Foulger gene: DARS was added gene: DARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS were set to 23643384 Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281 Mode of pathogenicity for gene: DARS was set to Other - please provide details in the comments |
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| DDG2P v0.1 | DAG1 |
Rebecca Foulger gene: DAG1 was added gene: DAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAG1 were set to 21388311 Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818 Mode of pathogenicity for gene: DAG1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | D2HGDH |
Rebecca Foulger gene: D2HGDH was added gene: D2HGDH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: D2HGDH were set to 15609246 Phenotypes for gene: D2HGDH were set to D-2-HYDROXYGLUTARIC ACIDURIA 1 600721 |
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| DDG2P v0.1 | CYP2U1 |
Rebecca Foulger gene: CYP2U1 was added gene: CYP2U1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to 23176821 Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA 615030 |
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| DDG2P v0.1 | CYP24A1 |
Rebecca Foulger gene: CYP24A1 was added gene: CYP24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP24A1 were set to 27394135 Phenotypes for gene: CYP24A1 were set to Hereditary 1,25-dihydroxyvitamin D-resistant rickets |
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| DDG2P v0.1 | CYP1B1 |
Rebecca Foulger gene: CYP1B1 was added gene: CYP1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP1B1 were set to 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971 Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 Mode of pathogenicity for gene: CYP1B1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CYC1 |
Rebecca Foulger gene: CYC1 was added gene: CYC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYC1 were set to 23910460 Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453 Mode of pathogenicity for gene: CYC1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CUL4B |
Rebecca Foulger gene: CUL4B was added gene: CUL4B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CUL4B were set to 17236139 Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354 |
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| DDG2P v0.1 | CTNND1 |
Rebecca Foulger gene: CTNND1 was added gene: CTNND1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNND1 were set to 100000; 29348693; 28301459 Phenotypes for gene: CTNND1 were set to Blepharo-cheiro-dontic syndrome |
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| DDG2P v0.1 | CTNNB1 |
Rebecca Foulger gene: CTNNB1 was added gene: CTNNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075 |
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| DDG2P v0.1 | CTDP1 |
Rebecca Foulger gene: CTDP1 was added gene: CTDP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTDP1 were set to 14517542 Phenotypes for gene: CTDP1 were set to CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168 |
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| DDG2P v0.1 | CSNK1G1 |
Rebecca Foulger gene: CSNK1G1 was added gene: CSNK1G1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CSNK1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSNK1G1 were set to 24463883 Phenotypes for gene: CSNK1G1 were set to EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY Mode of pathogenicity for gene: CSNK1G1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CRYGD | Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT 604219 for gene: CRYGD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRYGD | Rebecca Foulger Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 3 608983 for gene: CRYGD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRYGD |
Rebecca Foulger Added phenotypes CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690 for gene: CRYGD Publications for gene CRYGD were changed from 17564961; 12011157; 10915766; 10521291; 9927684 to 9927684 |
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| DDG2P v0.1 | CRYGD |
Rebecca Foulger gene: CRYGD was added gene: CRYGD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRYGD were set to 17564961; 12011157; 10915766; 10521291; 9927684 Phenotypes for gene: CRYGD were set to CATARACT CRYSTALLINE ACULEIFORM 115700 |
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| DDG2P v0.1 | CRYGC |
Rebecca Foulger Added phenotypes CATARACT COPPOCK-LIKE 604307 for gene: CRYGC Publications for gene CRYGC were changed from to 12011157; 10521291; 10914683 |
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| DDG2P v0.1 | CRYGC |
Rebecca Foulger gene: CRYGC was added gene: CRYGC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT 604219 |
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| DDG2P v0.1 | CRYBB3 |
Rebecca Foulger gene: CRYBB3 was added gene: CRYBB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRYBB3 were set to 15914629 Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741 Mode of pathogenicity for gene: CRYBB3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CRYBB2 |
Rebecca Foulger Added phenotypes CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547 for gene: CRYBB2 Publications for gene CRYBB2 were changed from to 11424921; 8812489 |
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| DDG2P v0.1 | CRYBB2 |
Rebecca Foulger gene: CRYBB2 was added gene: CRYBB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE 604307 |
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| DDG2P v0.1 | CRYBB1 | Rebecca Foulger Added phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 for gene: CRYBB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRYBB1 |
Rebecca Foulger gene: CRYBB1 was added gene: CRYBB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYBB1 were set to 12360425; 17460281 Phenotypes for gene: CRYBB1 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 |
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| DDG2P v0.1 | CRYBA4 |
Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 for gene: CRYBA4 Publications for gene CRYBA4 were changed from 16960806; 15452067 to 16960806 |
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| DDG2P v0.1 | CRYBA4 |
Rebecca Foulger gene: CRYBA4 was added gene: CRYBA4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRYBA4 were set to 16960806; 15452067 Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2 610425 Mode of pathogenicity for gene: CRYBA4 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CRYBA1 |
Rebecca Foulger gene: CRYBA1 was added gene: CRYBA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRYBA1 were set to 14598164 Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881 |
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| DDG2P v0.1 | CRYAB |
Rebecca Foulger Added phenotypes MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869 for gene: CRYAB Publications for gene CRYAB were changed from 11577372 to 21337604 |
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| DDG2P v0.1 | CRYAB |
Rebecca Foulger gene: CRYAB was added gene: CRYAB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYAB were set to 11577372 Phenotypes for gene: CRYAB were set to CATARACT POSTERIOR POLAR TYPE 2 613763 |
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| DDG2P v0.1 | CRYAA |
Rebecca Foulger Added phenotypes CATARACT, NUCLEAR 123580 for gene: CRYAA Publications for gene CRYAA were changed from 11006246 to 19182255 |
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| DDG2P v0.1 | CRYAA |
Rebecca Foulger gene: CRYAA was added gene: CRYAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYAA were set to 11006246 Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 123580 |
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| DDG2P v0.1 | CRBN |
Rebecca Foulger gene: CRBN was added gene: CRBN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRBN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRBN were set to 18414909 Phenotypes for gene: CRBN were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A 607417 |
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| DDG2P v0.1 | CRADD |
Rebecca Foulger Added phenotypes Megalencephaly with Variant Lissencephaly for gene: CRADD Publications for gene CRADD were changed from 22279524 to 27773430 |
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| DDG2P v0.1 | CRADD |
Rebecca Foulger gene: CRADD was added gene: CRADD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRADD were set to 22279524 Phenotypes for gene: CRADD were set to MENTAL RETARDATION, NON-SYNDROMIC 614499 Mode of pathogenicity for gene: CRADD was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CPS1 |
Rebecca Foulger gene: CPS1 was added gene: CPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPS1 were set to 8486760; 11474210; 9711878; 17310273; 19793055 Phenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300 |
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| DDG2P v0.1 | COX7B |
Rebecca Foulger gene: COX7B was added gene: COX7B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: COX7B were set to 23122588; 9747372 Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887 |
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| DDG2P v0.1 | COQ5 |
Rebecca Foulger gene: COQ5 was added gene: COQ5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ5 were set to 21937992 Phenotypes for gene: COQ5 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: COQ5 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COQ4 |
Rebecca Foulger gene: COQ4 was added gene: COQ4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to 25658047 Phenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276 |
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| DDG2P v0.1 | COMP |
Rebecca Foulger gene: COMP was added gene: COMP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COMP were set to ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 Mode of pathogenicity for gene: COMP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | COL6A3 |
Rebecca Foulger Added phenotypes ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090 for gene: COL6A3 Publications for gene COL6A3 were changed from 26004199 to 11992252 |
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| DDG2P v0.1 | COL2A1 |
Rebecca Foulger Added phenotypes PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805 for gene: COL2A1 Publications for gene COL2A1 were changed from 8723097; 15316962 to 21671384; 15930420 |
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| DDG2P v0.1 | COL2A1 |
Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508 for gene: COL2A1 Publications for gene COL2A1 were changed from 14729840 to 16752401; 17721977; 15671297 |
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| DDG2P v0.1 | COL25A1 |
Rebecca Foulger gene: COL25A1 was added gene: COL25A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL25A1 were set to 25500261 Phenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219 |
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| DDG2P v0.1 | CNKSR1 |
Rebecca Foulger gene: CNKSR1 was added gene: CNKSR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNKSR1 were set to 21937992 Phenotypes for gene: CNKSR1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | CLPB |
Rebecca Foulger gene: CLPB was added gene: CLPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to 25597510 Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271 |
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| DDG2P v0.1 | CLP1 |
Rebecca Foulger gene: CLP1 was added gene: CLP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLP1 were set to 24766809 Phenotypes for gene: CLP1 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803 Mode of pathogenicity for gene: CLP1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CLN8 |
Rebecca Foulger Added phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003 for gene: CLN8 Publications for gene CLN8 were changed from 16570191; 19431184 to 10508524 |
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| DDG2P v0.1 | CLIC2 |
Rebecca Foulger gene: CLIC2 was added gene: CLIC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CLIC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CLIC2 were set to 22814392 Phenotypes for gene: CLIC2 were set to Mental retardation, X-linked, syndromic 32 Mode of pathogenicity for gene: CLIC2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CLDN19 |
Rebecca Foulger gene: CLDN19 was added gene: CLDN19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 17033971 Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190 Mode of pathogenicity for gene: CLDN19 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CLCNKB |
Rebecca Foulger gene: CLCNKB was added gene: CLCNKB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCNKB were set to 15044642; 18310267 Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B 613090 |
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| DDG2P v0.1 | CLCNKA |
Rebecca Foulger gene: CLCNKA was added gene: CLCNKA was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCNKA were set to BARTTER SYNDROME TYPE 4B 613090 |
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| DDG2P v0.1 | CKAP2L |
Rebecca Foulger gene: CKAP2L was added gene: CKAP2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440 |
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| DDG2P v0.1 | CIT |
Rebecca Foulger gene: CIT was added gene: CIT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIT were set to 27453578 Phenotypes for gene: CIT were set to PRIMARY MICROCEPHALY 615414 Mode of pathogenicity for gene: CIT was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CHRNG |
Rebecca Foulger gene: CHRNG was added gene: CHRNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNG were set to 16826520 Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000 |
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| DDG2P v0.1 | CHMP1A |
Rebecca Foulger gene: CHMP1A was added gene: CHMP1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHMP1A were set to 23023333 Phenotypes for gene: CHMP1A were set to PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961 |
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| DDG2P v0.1 | CHD7 |
Rebecca Foulger Added phenotypes CHARGE SYNDROME 214800 for gene: CHD7 Publications for gene CHD7 were changed from 18834967 to 17334995; 18978652; 17937444; 17661815; 16400610; 15300250; 18074359 |
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| DDG2P v0.1 | CHD4 |
Rebecca Foulger gene: CHD4 was added gene: CHD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD4 were set to 27616479; 27479907 Phenotypes for gene: CHD4 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease |
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| DDG2P v0.1 | CFC1 |
Rebecca Foulger gene: CFC1 was added gene: CFC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFC1 were set to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372 |
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| DDG2P v0.1 | CEP57 |
Rebecca Foulger gene: CEP57 was added gene: CEP57 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP57 were set to 21552266; 12116237 Phenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114 |
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| DDG2P v0.1 | CEP290 |
Rebecca Foulger gene: CEP290 was added gene: CEP290 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to BARDET-BIEDL SYNDROME TYPE 14 209900 |
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| DDG2P v0.1 | CEP152 |
Rebecca Foulger gene: CEP152 was added gene: CEP152 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP152 were set to MICROCEPHALY PRIMARY TYPE 4 604321 |
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| DDG2P v0.1 | CEP135 |
Rebecca Foulger gene: CEP135 was added gene: CEP135 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CEP135 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP135 were set to 22521416 Phenotypes for gene: CEP135 were set to PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673 |
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| DDG2P v0.1 | CENPJ |
Rebecca Foulger gene: CENPJ was added gene: CENPJ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPJ were set to 15793586; 16900296; 20978018; 12843329 Phenotypes for gene: CENPJ were set to MICROCEPHALY PRIMARY TYPE 6 608393 |
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| DDG2P v0.1 | CDKL5 |
Rebecca Foulger gene: CDKL5 was added gene: CDKL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CDKL5 were set to 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098 Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672 |
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| DDG2P v0.1 | CDK5RAP2 |
Rebecca Foulger gene: CDK5RAP2 was added gene: CDK5RAP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDK5RAP2 were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936 |
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| DDG2P v0.1 | CDK13 |
Rebecca Foulger gene: CDK13 was added gene: CDK13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK13 were set to 27479907 Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Mode of pathogenicity for gene: CDK13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CDK10 |
Rebecca Foulger gene: CDK10 was added gene: CDK10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK10 were set to 29130579; 28886341 Phenotypes for gene: CDK10 were set to Severe Growth Retardation, Spine Malformations, and Developmental Delays |
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| DDG2P v0.1 | CDH3 |
Rebecca Foulger Added phenotypes HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 for gene: CDH3 Publications for gene CDH3 were changed from 15805154 to 11544476; 12445216 |
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| DDG2P v0.1 | CDH15 |
Rebecca Foulger gene: CDH15 was added gene: CDH15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CDH15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH15 were set to 19012874; 26506440 Phenotypes for gene: CDH15 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 612580 |
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| DDG2P v0.1 | CDH1 |
Rebecca Foulger gene: CDH1 was added gene: CDH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH1 were set to 100000 Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome Mode of pathogenicity for gene: CDH1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | CCNO |
Rebecca Foulger gene: CCNO was added gene: CCNO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCNO were set to 24747639 Phenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29 615872 |
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| DDG2P v0.1 | CCNA2 |
Rebecca Foulger gene: CCNA2 was added gene: CCNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CCNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCNA2 were set to 21937992 Phenotypes for gene: CCNA2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | CCDC65 |
Rebecca Foulger gene: CCDC65 was added gene: CCDC65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA |
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| DDG2P v0.1 | CCDC40 |
Rebecca Foulger gene: CCDC40 was added gene: CCDC40 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC40 were set to 21131974 Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15 613808 |
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| DDG2P v0.1 | CCDC39 |
Rebecca Foulger gene: CCDC39 was added gene: CCDC39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC39 were set to 21131972 Phenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14 613807 |
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| DDG2P v0.1 | CCDC151 |
Rebecca Foulger gene: CCDC151 was added gene: CCDC151 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC151 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC151 were set to 25192045 Phenotypes for gene: CCDC151 were set to PRIMARY CILLARY DYSKINEASIA 616037 |
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| DDG2P v0.1 | CCDC114 |
Rebecca Foulger gene: CCDC114 was added gene: CCDC114 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC114 were set to 23261303; 23261302 Phenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA |
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| DDG2P v0.1 | CCDC103 |
Rebecca Foulger gene: CCDC103 was added gene: CCDC103 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC103 were set to 22581229 Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA |
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| DDG2P v0.1 | CC2D1A |
Rebecca Foulger gene: CC2D1A was added gene: CC2D1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CC2D1A were set to 16033914 Phenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443 |
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| DDG2P v0.1 | CASP2 |
Rebecca Foulger gene: CASP2 was added gene: CASP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP2 were set to 21937992 Phenotypes for gene: CASP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | CASK |
Rebecca Foulger gene: CASK was added gene: CASK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CASK was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CASK were set to 21954287; 19165920 Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED 300749 |
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| DDG2P v0.1 | CARS2 |
Rebecca Foulger gene: CARS2 was added gene: CARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARS2 were set to 25787132; 25361775 Phenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression |
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| DDG2P v0.1 | CAPN10 |
Rebecca Foulger gene: CAPN10 was added gene: CAPN10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CAPN10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN10 were set to 21937992 Phenotypes for gene: CAPN10 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | CAMTA1 |
Rebecca Foulger gene: CAMTA1 was added gene: CAMTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMTA1 were set to 22693284 Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756 |
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| DDG2P v0.1 | CACNA1G |
Rebecca Foulger gene: CACNA1G was added gene: CACNA1G was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CACNA1G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1G were set to 21937992 Phenotypes for gene: CACNA1G were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | CACNA1D |
Rebecca Foulger Added phenotypes PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474 for gene: CACNA1D Publications for gene CACNA1D were changed from 21131953 to 23913001 |
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| DDG2P v0.1 | CA8 |
Rebecca Foulger gene: CA8 was added gene: CA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA8 were set to 19461874; 21937992 Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227 |
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| DDG2P v0.1 | CA5A |
Rebecca Foulger gene: CA5A was added gene: CA5A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA5A were set to 24530203 Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751 |
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| DDG2P v0.1 | C21orf59 |
Rebecca Foulger gene: C21orf59 was added gene: C21orf59 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C21orf59 were set to PRIMARY CILIARY DYSKINESIA |
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| DDG2P v0.1 | C1QBP |
Rebecca Foulger gene: C1QBP was added gene: C1QBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to 28942965 Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies Mode of pathogenicity for gene: C1QBP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | BUB1B |
Rebecca Foulger gene: BUB1B was added gene: BUB1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUB1B were set to 9916837; 21190457; 16411201; 11169558; 15475955 Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300 |
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| DDG2P v0.1 | BSND |
Rebecca Foulger gene: BSND was added gene: BSND was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BSND were set to 19646679; 12574213; 11687798 Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A 602522 |
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| DDG2P v0.1 | BRWD3 |
Rebecca Foulger gene: BRWD3 was added gene: BRWD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BRWD3 were set to 17668385 Phenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93 300659 |
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| DDG2P v0.1 | BRAF |
Rebecca Foulger Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 for gene: BRAF Publications for gene BRAF were changed from 19206169 to 18042262; 16474404; 16372351 |
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| DDG2P v0.1 | BRAF | Rebecca Foulger Added phenotypes LEOPARD SYNDROME TYPE 3 613707 for gene: BRAF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BMP2 |
Rebecca Foulger gene: BMP2 was added gene: BMP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BMP2 were set to 100000 Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations |
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| DDG2P v0.1 | BIN1 |
Rebecca Foulger gene: BIN1 was added gene: BIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BIN1 were set to 20142620; 17676042 Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2 255200 |
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| DDG2P v0.1 | BICD2 |
Rebecca Foulger gene: BICD2 was added gene: BICD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BICD2 were set to 23664120 Phenotypes for gene: BICD2 were set to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE Mode of pathogenicity for gene: BICD2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | BFSP2 |
Rebecca Foulger gene: BFSP2 was added gene: BFSP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BFSP2 were set to 10634598; 10729115 Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597 Mode of pathogenicity for gene: BFSP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | BCAP31 |
Rebecca Foulger gene: BCAP31 was added gene: BCAP31 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCAP31 were set to 24011989 Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS |
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| DDG2P v0.1 | BBS9 |
Rebecca Foulger gene: BBS9 was added gene: BBS9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9 209900 |
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| DDG2P v0.1 | BBS7 |
Rebecca Foulger gene: BBS7 was added gene: BBS7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7 209900 |
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| DDG2P v0.1 | BBS5 |
Rebecca Foulger gene: BBS5 was added gene: BBS5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5 209900 |
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| DDG2P v0.1 | BBS4 |
Rebecca Foulger gene: BBS4 was added gene: BBS4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4 209900 |
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| DDG2P v0.1 | BBS2 |
Rebecca Foulger gene: BBS2 was added gene: BBS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2 209900 |
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| DDG2P v0.1 | BBS12 |
Rebecca Foulger gene: BBS12 was added gene: BBS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12 209900 |
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| DDG2P v0.1 | BBS10 |
Rebecca Foulger gene: BBS10 was added gene: BBS10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10 209900 |
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| DDG2P v0.1 | BBS1 |
Rebecca Foulger gene: BBS1 was added gene: BBS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS1 were set to BARDET-BIEDL SYNDROME TYPE 1 209900 |
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| DDG2P v0.1 | B3GALNT2 |
Rebecca Foulger gene: B3GALNT2 was added gene: B3GALNT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to 23453667 Phenotypes for gene: B3GALNT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181 |
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| DDG2P v0.1 | ATRX |
Rebecca Foulger Added phenotypes ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040 for gene: ATRX Publications for gene ATRX were changed from 6682021; 6711605; 16222662; 10632111; 9043863; 10751095 to 12116232; 10995512; 8644709; 15565397; 9598720; 9244431; 7697714 |
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| DDG2P v0.1 | ATRX |
Rebecca Foulger gene: ATRX was added gene: ATRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATRX were set to 6682021; 6711605; 16222662; 10632111; 9043863; 10751095 Phenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580 |
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| DDG2P v0.1 | ATP8A2 |
Rebecca Foulger gene: ATP8A2 was added gene: ATP8A2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to 22892528 Phenotypes for gene: ATP8A2 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268 Mode of pathogenicity for gene: ATP8A2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ATP7A |
Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489 for gene: ATP7A Publications for gene ATP7A were changed from 17108763; 8149649; 11431706; 10739752; 9246006 to 20170900; 19153371 |
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| DDG2P v0.1 | ATP6V1B1 |
Rebecca Foulger gene: ATP6V1B1 was added gene: ATP6V1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1B1 were set to 12566520; 18798332; 9916796 Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300 |
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| DDG2P v0.1 | ATP6AP2 |
Rebecca Foulger gene: ATP6AP2 was added gene: ATP6AP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP2 were set to MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423 Mode of pathogenicity for gene: ATP6AP2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ATP1A3 |
Rebecca Foulger gene: ATP1A3 was added gene: ATP1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM 128235 Mode of pathogenicity for gene: ATP1A3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ATP13A2 |
Rebecca Foulger gene: ATP13A2 was added gene: ATP13A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9 606693 |
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| DDG2P v0.1 | ATAD3A | Rebecca Foulger Added phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy for gene: ATAD3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ATAD3A |
Rebecca Foulger gene: ATAD3A was added gene: ATAD3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307 Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy |
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| DDG2P v0.1 | ASPM |
Rebecca Foulger gene: ASPM was added gene: ASPM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPM were set to 12355089 Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936 |
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| DDG2P v0.1 | ASL |
Rebecca Foulger gene: ASL was added gene: ASL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 2263616; 12408190; 12384776 Phenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY 207900 |
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| DDG2P v0.1 | ASCL1 |
Rebecca Foulger gene: ASCL1 was added gene: ASCL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ASCL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCL1 were set to 21937992 Phenotypes for gene: ASCL1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ASCL1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ASCC3 |
Rebecca Foulger gene: ASCC3 was added gene: ASCC3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC3 were set to 21937992 Phenotypes for gene: ASCC3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ASCC3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ASCC1 |
Rebecca Foulger gene: ASCC1 was added gene: ASCC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to 26924529 Phenotypes for gene: ASCC1 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures |
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| DDG2P v0.1 | ASAH1 |
Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950 for gene: ASAH1 Publications for gene ASAH1 were changed from 10610716; 16951918; 11241842; 8955159 to 22703880 |
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| DDG2P v0.1 | ASAH1 |
Rebecca Foulger gene: ASAH1 was added gene: ASAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASAH1 were set to 10610716; 16951918; 11241842; 8955159 Phenotypes for gene: ASAH1 were set to FARBER LIPOGRANULOMATOSIS 228000 |
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| DDG2P v0.1 | ARX |
Rebecca Foulger Added phenotypes LISSENCEPHALY X-LINKED TYPE 2 300215 for gene: ARX Publications for gene ARX were changed from 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397 to 14722918; 11891829; 12379852 |
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| DDG2P v0.1 | ARX |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350 for gene: ARX Publications for gene ARX were changed from 1605226 to 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397 |
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| DDG2P v0.1 | ARX | Rebecca Foulger Added phenotypes PARTINGTON SYNDROME 309510 for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ARX |
Rebecca Foulger Added phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004 for gene: ARX Publications for gene ARX were changed from 21204226; 11971879 to 1605226 |
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| DDG2P v0.1 | ARX |
Rebecca Foulger gene: ARX was added gene: ARX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARX were set to 21204226; 11971879 Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED 300419 |
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| DDG2P v0.1 | ARSE |
Rebecca Foulger gene: ARSE was added gene: ARSE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARSE were set to 9409863; 7720070; 12567415 Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950 |
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| DDG2P v0.1 | ARSB |
Rebecca Foulger gene: ARSB was added gene: ARSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSB were set to 1718978; 1301949; 17643332; 8723688; 1550123; 8651289 Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6 253200 |
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| DDG2P v0.1 | ARSA |
Rebecca Foulger gene: ARSA was added gene: ARSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSA were set to 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462 Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY 250100 |
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| DDG2P v0.1 | ARMC9 |
Rebecca Foulger gene: ARMC9 was added gene: ARMC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC9 were set to 28625504 Phenotypes for gene: ARMC9 were set to Joubert syndrome 30 |
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| DDG2P v0.1 | ARMC4 |
Rebecca Foulger gene: ARMC4 was added gene: ARMC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC4 were set to 23849778 Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23 615451 |
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| DDG2P v0.1 | ARL6 |
Rebecca Foulger Added phenotypes RETINITIS PIGMENTOSA TYPE 55 613575 for gene: ARL6 Publications for gene ARL6 were changed from 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660 to 19956407 |
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| DDG2P v0.1 | ARL6 |
Rebecca Foulger gene: ARL6 was added gene: ARL6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6 were set to 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660 Phenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3 209900 |
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| DDG2P v0.1 | ARL14EP |
Rebecca Foulger gene: ARL14EP was added gene: ARL14EP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ARL14EP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL14EP were set to 21937992 Phenotypes for gene: ARL14EP were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ARL14EP was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ARID2 |
Rebecca Foulger gene: ARID2 was added gene: ARID2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARID2 were set to 28124119 Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder |
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| DDG2P v0.1 | ARID1B |
Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 614562 for gene: ARID1B Publications for gene ARID1B were changed from to 22426309; 22426308; 22405089 |
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| DDG2P v0.1 | ARID1B |
Rebecca Foulger gene: ARID1B was added gene: ARID1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME |
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| DDG2P v0.1 | ARID1A |
Rebecca Foulger gene: ARID1A was added gene: ARID1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME 135900 |
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| DDG2P v0.1 | ARHGEF9 |
Rebecca Foulger gene: ARHGEF9 was added gene: ARHGEF9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARHGEF9 were set to 21633362 Phenotypes for gene: ARHGEF9 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607 |
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| DDG2P v0.1 | ARHGEF6 |
Rebecca Foulger gene: ARHGEF6 was added gene: ARHGEF6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ARHGEF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARHGEF6 were set to MENTAL RETARDATION X-LINKED TYPE 46 300436 |
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| DDG2P v0.1 | ARHGAP31 |
Rebecca Foulger gene: ARHGAP31 was added gene: ARHGAP31 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARHGAP31 were set to 16451141; 474617 Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1 100300 |
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| DDG2P v0.1 | ARG1 |
Rebecca Foulger gene: ARG1 was added gene: ARG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 10502833; 2365823; 1463019; 7649538; 1598908 Phenotypes for gene: ARG1 were set to ARGININEMIA 207800 |
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| DDG2P v0.1 | ARFGEF2 |
Rebecca Foulger gene: ARFGEF2 was added gene: ARFGEF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARFGEF2 were set to 14647276 Phenotypes for gene: ARFGEF2 were set to PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097 |
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| DDG2P v0.1 | ARCN1 |
Rebecca Foulger gene: ARCN1 was added gene: ARCN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARCN1 were set to 27476655 Phenotypes for gene: ARCN1 were set to Microcephalic dwarfism |
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| DDG2P v0.1 | AR | Rebecca Foulger Added phenotypes ANDROGEN INSENSITIVITY SYNDROME 300068 for gene: AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AR |
Rebecca Foulger gene: AR was added gene: AR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY 313200 |
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| DDG2P v0.1 | AP1S2 |
Rebecca Foulger gene: AP1S2 was added gene: AP1S2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AP1S2 were set to 17617514; 5054319; 10398241; 17186471; 12599187 Phenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59 300630 |
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| DDG2P v0.1 | ANO5 | Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307 for gene: ANO5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ANO5 |
Rebecca Foulger gene: ANO5 was added gene: ANO5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ANO5 were set to MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319 |
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| DDG2P v0.1 | AMPD2 |
Rebecca Foulger gene: AMPD2 was added gene: AMPD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 23911318 Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA |
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| DDG2P v0.1 | ALX4 | Rebecca Foulger Added phenotypes PARIETAL FORAMINA 2 221704 for gene: ALX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ALDOB |
Rebecca Foulger gene: ALDOB was added gene: ALDOB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOB were set to 3383242 Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE 229600 |
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| DDG2P v0.1 | ALDH3A2 |
Rebecca Foulger gene: ALDH3A2 was added gene: ALDH3A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 9250352; 9254849; 8528251; 10792573; 10577908 Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME 270200 |
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| DDG2P v0.1 | ALDH18A1 | Rebecca Foulger Added phenotypes MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652 for gene: ALDH18A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ALDH18A1 |
Rebecca Foulger gene: ALDH18A1 was added gene: ALDH18A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162 |
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| DDG2P v0.1 | AK2 |
Rebecca Foulger gene: AK2 was added gene: AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK2 were set to 19043417; 19043416 Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS 267500 |
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| DDG2P v0.1 | AGXT |
Rebecca Foulger gene: AGXT was added gene: AGXT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 8101040 Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1 259900 |
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| DDG2P v0.1 | AGTR2 |
Rebecca Foulger gene: AGTR2 was added gene: AGTR2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: AGTR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AGTR2 were set to X-LINKED MENTAL RETARDATION 88 290909 |
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| DDG2P v0.1 | AGA |
Rebecca Foulger gene: AGA was added gene: AGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to 6883788; 1765378; 8776587 Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA 208400 |
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| DDG2P v0.1 | AFG3L2 |
Rebecca Foulger gene: AFG3L2 was added gene: AFG3L2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AFG3L2 were set to 20208537 Phenotypes for gene: AFG3L2 were set to SPINOCEREBELLAR ATAXIA 28 610246 |
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| DDG2P v0.1 | AFF2 |
Rebecca Foulger gene: AFF2 was added gene: AFF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AFF2 were set to 21739600; 8334699 Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME 309548 |
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| DDG2P v0.1 | ADRA2B |
Rebecca Foulger gene: ADRA2B was added gene: ADRA2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADRA2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADRA2B were set to 21937992 Phenotypes for gene: ADRA2B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ADRA2B was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ADNP |
Rebecca Foulger gene: ADNP was added gene: ADNP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ADNP were set to 24531329 Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873 |
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| DDG2P v0.1 | ADK |
Rebecca Foulger gene: ADK was added gene: ADK was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADK were set to 21937992 Phenotypes for gene: ADK were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: ADK was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ADAR | Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ADAR |
Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR Publications for gene ADAR were changed from 12916015; 16935814; 17478391; 16817193 to 23001123 |
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| DDG2P v0.1 | ADAR |
Rebecca Foulger gene: ADAR was added gene: ADAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADAR were set to 12916015; 16935814; 17478391; 16817193 Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400 |
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| DDG2P v0.1 | ACTG1 |
Rebecca Foulger gene: ACTG1 was added gene: ACTG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME Mode of pathogenicity for gene: ACTG1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ACTB |
Rebecca Foulger gene: ACTB was added gene: ACTB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTB were set to 22366783 Phenotypes for gene: ACTB were set to BARAITSER-WINTER SYNDROME |
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| DDG2P v0.1 | ACSL4 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 63 300387 for gene: ACSL4 Publications for gene ACSL4 were changed from to 12525535; 11889465 |
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| DDG2P v0.1 | ACSL4 |
Rebecca Foulger gene: ACSL4 was added gene: ACSL4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194 |
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| DDG2P v0.1 | ACO2 |
Rebecca Foulger gene: ACO2 was added gene: ACO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACO2 were set to 22405087 Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559 |
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| DDG2P v0.1 | ACBD6 |
Rebecca Foulger gene: ACBD6 was added gene: ACBD6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 21937992 Phenotypes for gene: ACBD6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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| DDG2P v0.1 | ABL1 |
Rebecca Foulger gene: ABL1 was added gene: ABL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABL1 were set to 28288113 Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations Mode of pathogenicity for gene: ABL1 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | ABHD5 |
Rebecca Foulger gene: ABHD5 was added gene: ABHD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 11590543 Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME 275630 |
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| DDG2P v0.1 | ABCC6 |
Rebecca Foulger gene: ABCC6 was added gene: ABCC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC6 were set to 22209248 Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473 |
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| DDG2P v0.1 | AARS |
Rebecca Foulger gene: AARS was added gene: AARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS were set to 25817015 Phenotypes for gene: AARS were set to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. |
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| DDG2P v0.0 |
Ellen McDonagh Added Panel DDG2P Set panel types to: GMS Rare Disease Virtual |
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