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| DDG2P v3.12 | MMACHC | Achchuthan Shanmugasundram reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631720, 16311595, 16714133, 25687216, 11320193; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, OMIM:277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MMACHC | Achchuthan Shanmugasundram Publications for gene: MMACHC were updated from 16311595; 16714133; 11320193; 20631720 to 20631720; 16311595; 16714133; 25687216; 11320193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MMACHC | Rebecca Foulger reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MMACHC |
Rebecca Foulger gene: MMACHC was added gene: MMACHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 16311595; 16714133; 11320193; 20631720 Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400 |
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