Activity
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| Optic neuropathy v6.36 | NDUFAF5 |
Ida Ertmanska changed review comment from: Saada et al., 2012 PMID: 21607760 P1 - Male, Ashkenazi Jewish ancestry - diagnosed with Leigh syndrome, optic atrophy noted at 26 months. Homozygous for NDUFAF5:c.749G>T, p.Gly250Val. Simon et al., 2020, PMID: 30473481 P2 - Female, Taiwanese descent - presented at twenty-seven months of age with strabismus, followed by ptosis and vomiting during an intercurrent illness. Ophthalmological testing at 7yrs old revealed nystagmus as well as optic neuritis. Mansukhani et al. 2021, PMID: 32918965 Proband with LHONplus phenotype, compound het for nonsense & missense variants. Chen et al. 2024, PMID: 36580434 Proband with LHON-like phenotype with cognitive impairment, hom for frameshift NDUFAF5 variant c.1004_1007del, p.N335Tfs*37 (asymptomatic parents both het). Sources: Literature; to: Saada et al., 2012 PMID: 21607760 P1 - Male, Ashkenazi Jewish ancestry - diagnosed with Leigh syndrome, optic atrophy noted at 26 months. Homozygous for NDUFAF5:c.749G>T, p.Gly250Val. Simon et al., 2020, PMID: 30473481 P2 - Female, Taiwanese descent - presented at twenty-seven months of age with strabismus, followed by ptosis and vomiting during an intercurrent illness. Ophthalmological testing at 7yrs old revealed nystagmus as well as optic neuritis. Mansukhani et al. 2021, PMID: 32918965 Proband with LHONplus phenotype, compound het for nonsense & missense variants in NDUFAF5: c.24G>A, p.(Trp8*) and c.827G>A, p.(Arg276Gln), Chen et al. 2024, PMID: 36580434 Proband with LHON-like phenotype with cognitive impairment, hom for frameshift NDUFAF5 variant c.1004_1007del, p.N335Tfs*37 (asymptomatic parents both het). NDUFAF5 is associated with AR Mitochondrial complex I deficiency, nuclear type 16, OMIM:618238 (accessed 27th May 2026). Sources: Literature |
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| Optic neuropathy v6.36 | NDUFAF5 | Ida Ertmanska Classified gene: NDUFAF5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.36 | NDUFAF5 | Ida Ertmanska Added comment: Comment on list classification: There are at least 4 unrelated probands reported in literature with biallelic NDUFAF5 variants and optic neuropathy (LHON-like or (Leigh-like presentation). Hence, this gene should be promoted to Green on Optic neuropathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.36 | NDUFAF5 | Ida Ertmanska Gene: ndufaf5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.35 | NDUFAF5 |
Ida Ertmanska gene: NDUFAF5 was added gene: NDUFAF5 was added to Optic neuropathy. Sources: Literature Q2_26_promote_green tags were added to gene: NDUFAF5. Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF5 were set to 21607760; 30473481; 32918965; 36580434 Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, OMIM:618238 Review for gene: NDUFAF5 was set to GREEN Added comment: Saada et al., 2012 PMID: 21607760 P1 - Male, Ashkenazi Jewish ancestry - diagnosed with Leigh syndrome, optic atrophy noted at 26 months. Homozygous for NDUFAF5:c.749G>T, p.Gly250Val. Simon et al., 2020, PMID: 30473481 P2 - Female, Taiwanese descent - presented at twenty-seven months of age with strabismus, followed by ptosis and vomiting during an intercurrent illness. Ophthalmological testing at 7yrs old revealed nystagmus as well as optic neuritis. Mansukhani et al. 2021, PMID: 32918965 Proband with LHONplus phenotype, compound het for nonsense & missense variants. Chen et al. 2024, PMID: 36580434 Proband with LHON-like phenotype with cognitive impairment, hom for frameshift NDUFAF5 variant c.1004_1007del, p.N335Tfs*37 (asymptomatic parents both het). Sources: Literature |
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