Activity
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2 actions
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| DDG2P v5.3 | SNF8 | Achchuthan Shanmugasundram reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 38423010; Phenotypes: SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | SNF8 |
Achchuthan Shanmugasundram gene: SNF8 was added gene: SNF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNF8 were set to 38423010 Phenotypes for gene: SNF8 were set to SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy) |
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