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| DDG2P v3.12 | CHMP1A | Achchuthan Shanmugasundram reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023333; Phenotypes: PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY, OMIM:614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CHMP1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHMP1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | CHMP1A | Rebecca Foulger reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CHMP1A |
Rebecca Foulger gene: CHMP1A was added gene: CHMP1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHMP1A were set to 23023333 Phenotypes for gene: CHMP1A were set to PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961 |
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