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| Aminoacidopathy v1.84 | MMACHC | Zornitza Stark Marked gene: MMACHC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.84 | MMACHC | Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.84 | MMACHC | Zornitza Stark Classified gene: MMACHC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.84 | MMACHC | Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | MMACHC |
Sangavi Sivagnanasundram gene: MMACHC was added gene: MMACHC was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 26149271; 28693988; 18164228; 16963011; 30157807; 16311595; 23580368 Phenotypes for gene: MMACHC were set to methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Review for gene: MMACHC was set to GREEN Added comment: Well established gene disease association with reported individuals having errors in biochemical function. Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:005397 Sources: ClinGen |
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