Activity
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| Optic neuropathy v5.38 | NDUFA10 | Ida Ertmanska Mode of pathogenicity for gene: NDUFA10 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.35 | NDUFA10 | Ida Ertmanska Phenotypes for gene: NDUFA10 were changed from Optic neuropathy, optic atrophy; LHON-like to Mitochondrial complex I deficiency, nuclear type 22, OMIM:618243; mitochondrial complex I deficiency, nuclear type 22, MONDO:0032626; Optic neuropathy, HP:0001138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.34 | NDUFA10 | Ida Ertmanska Publications for gene: NDUFA10 were set to PMID: 41234160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.33 | NDUFA10 | Ida Ertmanska Classified gene: NDUFA10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.33 | NDUFA10 | Ida Ertmanska Gene: ndufa10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.32 | NDUFA10 |
Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: NDUFA10. Tag Q4_25_NHS_review tag was added to gene: NDUFA10. |
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| Optic neuropathy v5.32 | NDUFA10 | Ida Ertmanska changed review comment from: Comment on list classification: There are 4 individuals from 3 unrelated families with homozygous NDUFA10 variants and optic atrophy (isolated or syndromic).; to: Comment on list classification: There are 4 individuals from 3 unrelated families with homozygous NDUFA10 variants and optic atrophy (isolated or syndromic). Based on the available evidence, this gene should be promoted to Green for Optic neuropathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.32 | NDUFA10 | Ida Ertmanska edited their review of gene: NDUFA10: Added comment: Comment on list classification: There are 4 individuals from 3 unrelated families with homozygous NDUFA10 variants and optic atrophy (isolated or syndromic).; Changed publications to: 31130284, 36270260, 41234160; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 22, OMIM:618243, mitochondrial complex I deficiency, nuclear type 22, MONDO:0032626 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.32 | NDUFA10 | Ida Ertmanska reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 41234160; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, OMIM:618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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