Activity
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| Optic neuropathy v6.42 | MT-ATP6 | Achchuthan Shanmugasundram Tag Q2_26_expert_review tag was added to gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.42 | MT-ATP6 | Achchuthan Shanmugasundram Phenotypes for gene: MT-ATP6 were changed from Leber optic atrophy; 535000; neurogenic weakness, ataxia, and retinitis pigmentosa; retinopathy; NARP syndrome, MONDO:0010794 to NARP syndrome, MONDO:0010794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.41 | MT-ATP6 | Ida Ertmanska changed review comment from: Comment on list classification: There are several cases reported in literature with optic neuropathy and variants in MT-ATP6. However, many of these variants are common and homoplasmic in multiple unaffected individuals (both family members and gnomAD cohort). They have also been classified as B/LB in ClinVar. Fiorini et al. (2025, PMID: 41234160) recently posed that the association between MT-ATP6 variants and LHON is questionable, and the optic neuropathy phenotype could be explained by variants in nuclear CI genes (especially if only mtDNA was sequenced). Based on the refuting evidence from literature, and following advice of NHS Mitochondrial Disorders team, we propose that MT-ATP6 should be downgraded to Red rating on Optic neuropathy.; to: Comment on list classification: There are several cases reported in literature with optic neuropathy and variants in MT-ATP6. However, many of these variants are common and homoplasmic in multiple unaffected individuals (both family members and gnomAD cohort). They have also been classified as B/LB in ClinVar. Fiorini et al. (2025, PMID: 41234160) recently posed that the association between MT-ATP6 variants and LHON is questionable, and the optic neuropathy phenotype could be explained by variants in nuclear CI genes (especially if only mtDNA was sequenced). Based on the refuting evidence from literature, and following advice of NHS Mitochondrial Disorders team, we propose that MT-ATP6 should be downgraded to Red rating on Optic neuropathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.41 | MT-ATP6 | Ida Ertmanska changed review comment from: Comment on list classification: There are several cases reported in literature with optic neuropathy and variants in MT-ATP6. However, many of these variants are homoplasmic in multiple unaffected individuals (both family members and gnomAD cohort). They have also been classified as B/LB in ClinVar. Fiorini et al. (2025, PMID: 41234160) recently posed that the association between MT-ATP6 variants and LHON is questionable, and the optic neuropathy phenotype could be explained by variants in nuclear CI genes (especially if only mtDNA was sequenced). Based on the refuting evidence from literature, and following advice of NHS Mitochondrial Disorders team, we propose that MT-ATP6 should be downgraded to Red rating on Optic neuropathy.; to: Comment on list classification: There are several cases reported in literature with optic neuropathy and variants in MT-ATP6. However, many of these variants are common and homoplasmic in multiple unaffected individuals (both family members and gnomAD cohort). They have also been classified as B/LB in ClinVar. Fiorini et al. (2025, PMID: 41234160) recently posed that the association between MT-ATP6 variants and LHON is questionable, and the optic neuropathy phenotype could be explained by variants in nuclear CI genes (especially if only mtDNA was sequenced). Based on the refuting evidence from literature, and following advice of NHS Mitochondrial Disorders team, we propose that MT-ATP6 should be downgraded to Red rating on Optic neuropathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.41 | MT-ATP6 | Ida Ertmanska changed review comment from: Comment on list classification: There are several cases reported in literature with optic neuropathy and variants in MT-ATP6. However, many of these variants are homoplasmic in multiple unaffected individuals (both family members and gnomAD cohort). They have also been classified as B/LB in ClinVar. Fiorini et al. (2025, PMID: 41234160) recently posed that the association between MT-ATP6 variants and LHON is questionable, and the optic neuropathy phenotype could be explained by variants in nuclear CI genes. Based on the refuting evidence from literature, and following advice of NHS Mitochondrial Disorders team, we propose that MT-ATP6 should be downgraded to Red rating on Optic neuropathy.; to: Comment on list classification: There are several cases reported in literature with optic neuropathy and variants in MT-ATP6. However, many of these variants are homoplasmic in multiple unaffected individuals (both family members and gnomAD cohort). They have also been classified as B/LB in ClinVar. Fiorini et al. (2025, PMID: 41234160) recently posed that the association between MT-ATP6 variants and LHON is questionable, and the optic neuropathy phenotype could be explained by variants in nuclear CI genes (especially if only mtDNA was sequenced). Based on the refuting evidence from literature, and following advice of NHS Mitochondrial Disorders team, we propose that MT-ATP6 should be downgraded to Red rating on Optic neuropathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.41 | MT-ATP6 | Ida Ertmanska commented on gene: MT-ATP6: Comment on list classification: There are several cases reported in literature with optic neuropathy and variants in MT-ATP6. However, many of these variants are homoplasmic in multiple unaffected individuals (both family members and gnomAD cohort). They have also been classified as B/LB in ClinVar. Fiorini et al. (2025, PMID: 41234160) recently posed that the association between MT-ATP6 variants and LHON is questionable, and the optic neuropathy phenotype could be explained by variants in nuclear CI genes. Based on the refuting evidence from literature, and following advice of NHS Mitochondrial Disorders team, we propose that MT-ATP6 should be downgraded to Red rating on Optic neuropathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.41 | MT-ATP6 | Ida Ertmanska Phenotypes for gene: MT-ATP6 were changed from Leber optic atrophy; 535000; neurogenic weakness, ataxia, and retinitis pigmentosa; retinopathy to Leber optic atrophy; 535000; neurogenic weakness, ataxia, and retinitis pigmentosa; retinopathy; NARP syndrome, MONDO:0010794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.40 | MT-ATP6 | Ida Ertmanska Publications for gene: MT-ATP6 were set to 7726182; 10676807; 26448634; 26252090; 24118886 (functional evidence); 23266623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.39 | MT-ATP6 | Ida Ertmanska Tag Q2_26_demote_red tag was added to gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.39 | MT-ATP6 | Ida Ertmanska edited their review of gene: MT-ATP6: Changed phenotypes to: NARP syndrome, MONDO:0010794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.39 | MT-ATP6 | Ida Ertmanska edited their review of gene: MT-ATP6: Changed rating: RED; Changed publications to: 7726182, 24986921, 26252090, 26448634, 41234160; Changed mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v6.39 | MT-ATP6 | Ida Ertmanska commented on gene: MT-ATP6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.11 | MT-ATP6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.11 | MT-ATP6 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.68 | MT-ATP6 | Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.28 | MT-ATP6 | Tom Cullup reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: 7726182, 10676807, 26448634, 26252090, 24118886 (functional evidence), 23266623; Phenotypes: Leber optic atrophy, 535000, neurogenic weakness, ataxia, and retinitis pigmentosa, retinopathy; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v1.27 | MT-ATP6 |
Ivone Leong Source London North GLH was added to MT-ATP6. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Optic neuropathy | MT-ATP6 | Ellen McDonagh marked MT-ATP6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy | MT-ATP6 | Ellen McDonagh classified MT-ATP6 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy | MT-ATP6 | Ellen McDonagh commented on MT-ATP6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||