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Optic neuropathy v6.39 NDUFS1 Ida Ertmanska Publications for gene: NDUFS1 were set to
Optic neuropathy v6.38 NDUFS1 Ida Ertmanska Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Optic neuropathy v6.37 NDUFS1 Ida Ertmanska Classified gene: NDUFS1 as Amber List (moderate evidence)
Optic neuropathy v6.37 NDUFS1 Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated cases reported with biallelic NDUFS1 variants and optic neuropathy (LHON-like or syndromic CI-deficiency presentation). Hence, this gene should be promoted to Green at the next update.
Optic neuropathy v6.37 NDUFS1 Ida Ertmanska Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v6.36 NDUFS1 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: NDUFS1.
Optic neuropathy v6.36 NDUFS1 Ida Ertmanska reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11349233, 39423307; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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