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| Optic neuropathy v6.39 | MT-ATP6 |
Ida Ertmanska changed review comment from: PMID: 41234160 Fiorini et al., 2025 Proband in family A harboured biallelic NDUFS7 variants, and a m.9025G>A variant in MT-ATP6. However, the MT-ATP6 variant is relatively common: 45/56418 homoplasmic cases in gnomAD v4.1. Authors pose that the NDUFS7 biallelic variant is the true cause, and they put into question the association between MT-ATP6 variants and LHON. PMID: 26252090 Gao et al., 2015 Report of two Chinese families with Leber's hereditary optic neuropathy, with penetrance of 12.5% and 30.0% in the two families. Only mitochondrial genome was sequenced - this detected homoplasmic T8821G mutation in MT-ATP6, and distinct sets of polymorphisms belonging to haplogroups M10a. PMID: 24986921 López-Gallardo et al., 2014 The m.9029A>G, p.His168Arg MT-ATP6 variant was detected in a proband with 'atypical' LHON - homoplasmic in 3/56429 individuals in gnomAD v3.1.2, VUS in ClinVar. PMID: 7726182 Lamminen et al., 1995 Finnish proband with LHON, MT-ATP6:c.575T>C, p.Ile192Thr. Proband and 3 unaffected maternal family members were all homoplasmic for the variant. Variant is homoplasmic in 59/56427 individuals in gnomAD v3.1.2, B/LB in ClinVar.; to: PMID: 41234160 Fiorini et al., 2025 Proband in family A harboured biallelic NDUFS7 variants, and a m.9025G>A variant in MT-ATP6. However, the MT-ATP6 variant is relatively common: 45/56418 homoplasmic cases in gnomAD v4.1. Authors pose that the NDUFS7 biallelic variant is the true cause, and they put into question the association between MT-ATP6 variants and LHON. PMID: 26448634 Widgren et al., 2015 Nine rare mutations in MT-ATP6 were identified in seven patients, of whom four manifested with retinopathy and three had clusters of MT-ATP6 mutations. Variant m.8842A>G (MT-ATP6) found in an optic neuropathy patient (haplogroup H2). 2 other MT-ATP6 variants found in nystagmus cohort, and 4 other variants were unique to the retinal degeneration group. The m.8842A>G was not predicted to affect protein function. 128/56430 individuals are homoplasmic in gnomAD v3.1.2 (most in haplogroup H) - B/LB in ClinVar. PMID: 26252090 Gao et al., 2015 Report of two Chinese families with Leber's hereditary optic neuropathy, with penetrance of 12.5% and 30.0% in the two families. Only mitochondrial genome was sequenced - this detected homoplasmic T8821G mutation in MT-ATP6, and distinct sets of polymorphisms belonging to haplogroups M10a. PMID: 24986921 López-Gallardo et al., 2014 The m.9029A>G, p.His168Arg MT-ATP6 variant was detected in a proband with 'atypical' LHON - homoplasmic in 3/56429 individuals in gnomAD v3.1.2, VUS in ClinVar. PMID: 7726182 Lamminen et al., 1995 Finnish proband with LHON, MT-ATP6:c.575T>C, p.Ile192Thr. Proband and 3 unaffected maternal family members were all homoplasmic for the variant. Variant is homoplasmic in 59/56427 individuals in gnomAD v3.1.2, B/LB in ClinVar. |
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| Optic neuropathy v6.39 | MT-ATP6 |
Ida Ertmanska changed review comment from: PMID: 41234160 Fiorini et al., 2025 Proband in family A harboured biallelic NDUFS7 variants, and a m.9025G>A variant in MT-ATP6. However, the MT-ATP6 variant is relatively common: 45/56418 homoplasmic cases in gnomAD v4.1. Authors pose that the NDUFS7 biallelic variant is the true cause, and they put into question the association between MT-ATP6 variants and LHON. PMID: 24986921 López-Gallardo et al., 2014 The m.9029A>G, p.His168Arg MT-ATP6 variant was detected in a proband with 'atypical' LHON - homoplasmic in 3/56429 individuals in gnomAD v3.1.2, VUS in ClinVar. PMID: 7726182 Lamminen et al., 1995 Finnish proband with LHON, MT-ATP6:c.575T>C, p.Ile192Thr. Proband and 3 unaffected maternal family members were all homoplasmic for the variant. Variant is homoplasmic in 59/56427 individuals in gnomAD v3.1.2, B/LB in ClinVar.; to: PMID: 41234160 Fiorini et al., 2025 Proband in family A harboured biallelic NDUFS7 variants, and a m.9025G>A variant in MT-ATP6. However, the MT-ATP6 variant is relatively common: 45/56418 homoplasmic cases in gnomAD v4.1. Authors pose that the NDUFS7 biallelic variant is the true cause, and they put into question the association between MT-ATP6 variants and LHON. PMID: 26252090 Gao et al., 2015 Report of two Chinese families with Leber's hereditary optic neuropathy, with penetrance of 12.5% and 30.0% in the two families. Only mitochondrial genome was sequenced - this detected homoplasmic T8821G mutation in MT-ATP6, and distinct sets of polymorphisms belonging to haplogroups M10a. PMID: 24986921 López-Gallardo et al., 2014 The m.9029A>G, p.His168Arg MT-ATP6 variant was detected in a proband with 'atypical' LHON - homoplasmic in 3/56429 individuals in gnomAD v3.1.2, VUS in ClinVar. PMID: 7726182 Lamminen et al., 1995 Finnish proband with LHON, MT-ATP6:c.575T>C, p.Ile192Thr. Proband and 3 unaffected maternal family members were all homoplasmic for the variant. Variant is homoplasmic in 59/56427 individuals in gnomAD v3.1.2, B/LB in ClinVar. |
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| Optic neuropathy v6.20 | NDUFS7 | Ida Ertmanska Phenotypes for gene: NDUFS7 were changed from Optic neuropathy; optic atrophy; LHON-like to Mitochondrial complex I deficiency, nuclear type 3, OMIM:618224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.19 | NDUFS7 | Ida Ertmanska Publications for gene: NDUFS7 were set to PMID: 41234160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.18 | NDUFS7 | Ida Ertmanska Classified gene: NDUFS7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.18 | NDUFS7 | Ida Ertmanska Added comment: Comment on list classification: There are now 5 unrelated probands reported in literature with biallelic NDUFS7 variants and optic atrophy (isolated or syndromic). Hence, this gene should be promoted to Green on Optic neuropathy at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.18 | NDUFS7 | Ida Ertmanska Gene: ndufs7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.17 | NDUFS7 |
Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: NDUFS7. Tag Q2_26_NHS_review tag was added to gene: NDUFS7. |
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| Optic neuropathy v6.17 | NDUFS7 | Ida Ertmanska reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 41234160; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3, OMIM:618224; 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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