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| Optic neuropathy v4.2 | NDUFS1 | Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226 to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.68 | NDUFS1 | Ivone Leong Phenotypes for gene: NDUFS1 were changed from to MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.67 | NDUFS1 | Ivone Leong Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.28 | NDUFS1 | Tom Cullup reviewed gene: NDUFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.27 | NDUFS1 |
Ivone Leong gene: NDUFS1 was added gene: NDUFS1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFS1 was set to |
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