Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Optic neuropathy v6.8 NDUFAF3 Ida Ertmanska Phenotypes for gene: NDUFAF3 were changed from Optic neuropathy, optic atrophy; LHON-like to Mitochondrial complex I deficiency, nuclear type 18, OMIM:618240
Optic neuropathy v6.7 NDUFAF3 Ida Ertmanska Publications for gene: NDUFAF3 were set to PMID: 41234160
Optic neuropathy v6.6 NDUFAF3 Ida Ertmanska Classified gene: NDUFAF3 as Amber List (moderate evidence)
Optic neuropathy v6.6 NDUFAF3 Ida Ertmanska Added comment: Comment on list classification: There are 2 unrelated individuals reported in literature with biallelic NDUFAF3 variants and Leigh syndrome spectrum, including optic atrophy. An additional case was reported with neonatal mitochondrial disease and pallor of the optic disc, with another homozygous NDUFAF3 variants. Based on available evidence, this gene should remain Amber on optic neuropathy, until more evidence emerges.
Optic neuropathy v6.6 NDUFAF3 Ida Ertmanska Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v6.5 NDUFAF3 Ida Ertmanska edited their review of gene: NDUFAF3: Changed publications to: 19463981, 27986404, 41234160
Optic neuropathy v6.5 NDUFAF3 Ida Ertmanska changed review comment from: PMID: 41234160 Fiorini et al., 2025
Authors identified candidate causative variants in 31 patients from 23 unrelated families, with biallelic or hemizygous variants in 11 different nuclear Complex I related genes.

Family R - proband with LSS, presented with Motor delay, Abnormal basal ganglia MRI signal intensity, optic atrophy with insidious onset at 0-3 years of age; harboured NDUFAF3 c.5C>A, p.(A2D) and c.489_490del, p.(G164Sfs*29) comp het variants

PMID: 27986404 Baertling et al., 2017
Female Indian patient with Leigh syndrome diagnosis, bilateral optic atrophy was noted at 15 months. WES revealed a homozygous NDUFAF3 variant c.494C>T, p.Ala165Val.

This gene is associated with AR Mitochondrial complex I deficiency, nuclear type 18, OMIM:618240 (accessed 26th May 2026).; to: PMID: 41234160 Fiorini et al., 2025
Authors identified candidate causative variants in 31 patients from 23 unrelated families, with biallelic or hemizygous variants in 11 different nuclear Complex I related genes.

Family R - proband with LSS, presented with Motor delay, Abnormal basal ganglia MRI signal intensity, optic atrophy with insidious onset at 0-3 years of age; harboured NDUFAF3 c.5C>A, p.(A2D) and c.489_490del, p.(G164Sfs*29) comp het variants

PMID: 27986404 Baertling et al., 2017
Female Indian patient with Leigh syndrome diagnosis, bilateral optic atrophy was noted at 15 months. WES revealed a homozygous NDUFAF3 variant c.494C>T, p.Ala165Val.

PMID: 19463981 Saada et al. 2009
Male proband II-1 of Arab descent with neonatal mitochondrial disease diagnosis, including bilateral pallor of the optic disc seen on fundoscopy (no MRI done). He was homozygous for c.365G>C, p. R122P in NDUFAF3.

This gene is associated with AR Mitochondrial complex I deficiency, nuclear type 18, OMIM:618240 (accessed 26th May 2026).
Optic neuropathy v6.5 NDUFAF3 Ida Ertmanska reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27986404, 41234160; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, OMIM:618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v5.26 NDUFAF3 Neringa Jurkute gene: NDUFAF3 was added
gene: NDUFAF3 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF3 were set to PMID: 41234160
Phenotypes for gene: NDUFAF3 were set to Optic neuropathy, optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFAF3 was set to Other
Review for gene: NDUFAF3 was set to GREEN
Added comment: Recently accepted publication "Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy" reports Complex I genes, which pathogenic defects lead to optic atrophy; LHON-like phenotypes.
1 family were carrying NDUFAF3 pathogenic variants and affected individual was diagnoses with optic neuropathy

Defects in core CI subunits in reported cohort lead to isolated optic atrophy, while defects in accessory CI subunits and assembly factors resulted in a spectrum of phenotypes, from isolated to syndromic optic atrophy. For 12 cases, the subacute onset of vision loss enabled us to associate or confirm novel genes (NDUFS7, NDUFV1, NDUFAF2, NDUFAF4, NDUFAF8) with the autosomal recessive Leber Hereditary Optic Neuropathy (arLHON) phenotype. Moreover, in the NDUFS7 subunit a partial spatial segregation was noted for missense variants causing either Leigh syndrome or isolated optic atrophy, hinting at possible disease-specific molecular defect.
Sources: Literature, Research