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| Unexplained young onset end-stage renal disease - additional genes v0.103 | RRM2B | Achchuthan Shanmugasundram Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, OMIM:268315 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | RRM2B | Achchuthan Shanmugasundram Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 for gene: RRM2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | RRM2B | Achchuthan Shanmugasundram reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.60 | RRM2B | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.60 | RRM2B |
Achchuthan Shanmugasundram gene: RRM2B was added gene: RRM2B was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 |
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