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| DDG2P v6.17 | PPP2R5C | Achchuthan Shanmugasundram reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 39978342; Phenotypes: PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | PPP2R5C |
Achchuthan Shanmugasundram gene: PPP2R5C was added gene: PPP2R5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R5C were set to 39978342 Phenotypes for gene: PPP2R5C were set to PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures; MONDO:0100038 Mode of pathogenicity for gene: PPP2R5C was set to Other |
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