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| Hereditary ataxia with onset in adulthood v1.9 | MMACHC | Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria cblC type, 277400 for gene: MMACHC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | MMACHC | Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | MMACHC | Tracy Lester reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | MMACHC | Louise Daugherty Source NHS GMS was added to MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | MMACHC | Louise Daugherty Source Wessex and West Midlands GLH was added to MMACHC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.58 | MMACHC | Louise Daugherty Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | MMACHC |
Eleanor Williams gene: MMACHC was added gene: MMACHC was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 26283149 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR) |
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