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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)