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| Unexplained young onset end-stage renal disease v0.42 | MMACHC | Moin Saleem reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.41 | MMACHC | Eleanor Williams reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.40 | MMACHC |
Eleanor Williams gene: MMACHC was added gene: MMACHC was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 1593355; 11972107; 27324188; 24210589; 12210350; 29068997; 17874135 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 |
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