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DDG2P v3.12 | SHANK2 | Achchuthan Shanmugasundram reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20473310; Phenotypes: SUSCEPTIBILITY TO AUTISM TYPE 17, OMIM:613436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ANK2 | Achchuthan Shanmugasundram reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: 25356970, 30755392, 22542183, 28191889; Phenotypes: ANK2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | SHANK2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v3.11 | ANK2 |
Achchuthan Shanmugasundram gene: ANK2 was added gene: ANK2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANK2 were set to 25356970; 30755392; 22542183; 28191889 Phenotypes for gene: ANK2 were set to ANK2-related neurodevelopmental disorder |
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DDG2P v0.2 | SHANK2 | Rebecca Foulger reviewed gene: SHANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SHANK2 |
Rebecca Foulger gene: SHANK2 was added gene: SHANK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHANK2 were set to 20473310 Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17 613436 |