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| DDG2P v3.12 | CA5A | Achchuthan Shanmugasundram reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24530203; Phenotypes: HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, OMIM:615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CA5A |
Achchuthan Shanmugasundram Source Expert Review Green was added to CA5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | CA5A | Rebecca Foulger reviewed gene: CA5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CA5A |
Rebecca Foulger gene: CA5A was added gene: CA5A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA5A were set to 24530203 Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751 |
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