Activity
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2 actions
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| 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 v6.16 | 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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