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Intellectual disability v4.109 DEAF1 Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
Intellectual disability v4.110 DEAF1 Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
Intellectual disability v4.110 DEAF1 Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
Intellectual disability v4.109 DEAF1 Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
Intellectual disability v4.109 DEAF1 Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
Intellectual disability v4.109 DEAF1 Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
Intellectual disability v4.108 DEAF1 Achchuthan Shanmugasundram Publications for gene: DEAF1 were set to 21076407; 35981081
Intellectual disability v4.109 DEAF1 Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
Intellectual disability v4.108 DEAF1 Achchuthan Shanmugasundram Publications for gene: DEAF1 were set to 21076407; 35981081
Intellectual disability v4.108 DEAF1 Achchuthan Shanmugasundram Publications for gene: DEAF1 were set to 21076407; 35981081
Intellectual disability v4.107 DEAF1 Achchuthan Shanmugasundram Publications for gene: DEAF1 were set to 21076407; 35981081
Intellectual disability v4.107 DEAF1 Achchuthan Shanmugasundram Publications for gene: DEAF1 were set to 21076407
Intellectual disability v2.953 DEAF1 Rebecca Foulger Phenotypes for gene: DEAF1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 to MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
Intellectual disability v2.952 DEAF1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed the MOI from 'MONOALLELIC' to 'BOTH monoallelic and biallelic' based on PMID:30923367. Nabais et al., 2019 investigated AD and AR DEAF1 variants in a cohort of 23 patients. With the exception of microcephaly, most phenotypes (including ID, DD and seizures) were reported in patients with biallelic and pathogenic de novo DEAF1 variants.
Intellectual disability v2.952 DEAF1 Rebecca Foulger Mode of inheritance for gene: DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v2.468 DEAF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DEAF1.
Intellectual disability DEAF1 BRIDGE consortium edited their review of DEAF1
Intellectual disability DEAF1 BRIDGE consortium edited their review of DEAF1
Intellectual disability DEAF1 BRIDGE consortium reviewed DEAF1