Activity
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| DDG2P v5.3 | PNPLA8 | Achchuthan Shanmugasundram reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29681094, 37671596, 34177434, 39082157, 37057294, 25512002; Phenotypes: PNPLA8-related progressive microcephaly with seizures and neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | PNPLA8 |
Achchuthan Shanmugasundram gene: PNPLA8 was added gene: PNPLA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA8 were set to 25512002; 34177434; 37671596; 37057294; 39082157; 29681094 Phenotypes for gene: PNPLA8 were set to PNPLA8-related progressive microcephaly with seizures and neurodegeneration |
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