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Optic neuropathy v6.14 NDUFAF4 Ida Ertmanska Tag Q2_26_NHS_review tag was added to gene: NDUFAF4.
Optic neuropathy v6.11 NDUFAF4 Ida Ertmanska Phenotypes for gene: NDUFAF4 were changed from Optic neuropathy, optic atrophy; LHON-like to Mitochondrial complex I deficiency, nuclear type 15, OMIM:618237
Optic neuropathy v6.10 NDUFAF4 Ida Ertmanska Publications for gene: NDUFAF4 were set to PMID: 41234160
Optic neuropathy v6.9 NDUFAF4 Ida Ertmanska Classified gene: NDUFAF4 as Amber List (moderate evidence)
Optic neuropathy v6.9 NDUFAF4 Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals reported with biallelic NDUFAF4 variants and isolated optic atrophy. Hence, this gene should be promoted to Green at the next GMS update.
Optic neuropathy v6.9 NDUFAF4 Ida Ertmanska Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v6.8 NDUFAF4 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: NDUFAF4.
Optic neuropathy v6.8 NDUFAF4 Ida Ertmanska edited their review of gene: NDUFAF4: Changed publications to: 38381526, 41234160
Optic neuropathy v6.8 NDUFAF4 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.

2 unrelated probands carried NDUFAF4 variants:
Family S - proband with NDUFAF4 comp het variants c.224del p.(P75Lfs*7) and c.413T>C p.(I138T), with isolated optic atrophy
Family T - 2 sibs homozygous for c.413T>C p.(I138T) variant in NDUFAF4 with isolated optic atrophy

This gene is associated with AR Mitochondrial complex I deficiency, nuclear type 15, OMIM:618237 (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.

2 unrelated probands carried NDUFAF4 variants:
Family S - proband with NDUFAF4 comp het variants c.224del p.(P75Lfs*7) and c.413T>C p.(I138T), with isolated optic atrophy
Family T - 2 sibs homozygous for c.413T>C p.(I138T) variant in NDUFAF4 with isolated optic atrophy

PMID: 38381526 Barboni et al., 2025
Report of a 17yo boy with subacute bilateral visual loss with no pain - atypical LHON diagnosis. He was comp het for NDUFAF4: c.413T>C, p.Ile138Thr and c.224del, p.Pro75LeufsTer7. Temporal pallor of both the optic discs, optic disc microangiopathy, and temporal retinal nerve fiber layer (RNFL) thinning noted at 12 yrs old.

This gene is associated with AR Mitochondrial complex I deficiency, nuclear type 15, OMIM:618237 (accessed 26th May 2026).
Optic neuropathy v6.8 NDUFAF4 Ida Ertmanska reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 41234160; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15, OMIM:618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v5.26 NDUFAF8 Neringa Jurkute gene: NDUFAF8 was added
gene: NDUFAF8 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to PMID: 41234160
Phenotypes for gene: NDUFAF8 were set to Optic neuropathy, optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFAF8 was set to Other
Review for gene: NDUFAF8 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.
3 unrelated families were carrying NDUFS7 pathogenic variants and were 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
Optic neuropathy v5.26 NDUFAF4 Neringa Jurkute gene: NDUFAF4 was added
gene: NDUFAF4 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF4 were set to PMID: 41234160
Phenotypes for gene: NDUFAF4 were set to Optic neuropathy, optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFAF4 was set to Other
Review for gene: NDUFAF4 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.
2 unrelated families were carrying NDUFS7 pathogenic variants and were 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
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
Optic neuropathy v5.26 NDUFAF2 Neringa Jurkute gene: NDUFAF2 was added
gene: NDUFAF2 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF2 were set to PMID: 41234160
Phenotypes for gene: NDUFAF2 were set to Optic neuropathy, optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFAF2 was set to Other
Review for gene: NDUFAF2 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.
2 unrelated families were carrying NDUFAF2 pathogenic variants and were 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
Optic neuropathy v5.26 NDUFB11 Neringa Jurkute gene: NDUFB11 was added
gene: NDUFB11 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NDUFB11 were set to PMID: 41234160
Phenotypes for gene: NDUFB11 were set to Optic neuropathy, optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFB11 was set to Other
Review for gene: NDUFB11 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 NDUFB11 pathogenic variant 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
Optic neuropathy v5.26 NDUFA10 Neringa Jurkute gene: NDUFA10 was added
gene: NDUFA10 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA10 were set to PMID: 41234160
Phenotypes for gene: NDUFA10 were set to Optic neuropathy, optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFA10 was set to Other
Review for gene: NDUFA10 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.
3 unrelated families were carrying NDUFA10 pathogenic variants and were 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
Optic neuropathy v5.26 NDUFA1 Neringa Jurkute gene: NDUFA1 was added
gene: NDUFA1 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NDUFA1 were set to PMID: 41234160
Phenotypes for gene: NDUFA1 were set to Optic neuropathy, optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFA1 was set to Other
Review for gene: NDUFA1 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.
3 unrelated families were carrying NDUFA1 pathogenic variants and were 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
Optic neuropathy v5.26 NDUFV2 Neringa Jurkute gene: NDUFV2 was added
gene: NDUFV2 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV2 were set to PMID: 41234160
Phenotypes for gene: NDUFV2 were set to Optic neuropathy, optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFV2 was set to Other
Review for gene: NDUFV2 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 was carrying NDUFV2 pathogenic variant 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
Optic neuropathy v5.26 NDUFV1 Neringa Jurkute gene: NDUFV1 was added
gene: NDUFV1 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV1 were set to PMID: 41234160
Phenotypes for gene: NDUFV1 were set to Optic neuropathy, optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFV1 was set to Other
Review for gene: NDUFV1 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 was carrying NDUFV1 pathogenic variant 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
Optic neuropathy v5.26 NDUFS7 Neringa Jurkute gene: NDUFS7 was added
gene: NDUFS7 was added to Optic neuropathy. Sources: Literature,Research
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS7 were set to PMID: 41234160
Phenotypes for gene: NDUFS7 were set to Optic neuropathy; optic atrophy; LHON-like
Mode of pathogenicity for gene: NDUFS7 was set to Other
Review for gene: NDUFS7 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.
5 unrelated families were carrying NDUFS7 pathogenic variants and were 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