Activity
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| Optic neuropathy v6.31 | NSUN3 | Ida Ertmanska Phenotypes for gene: NSUN3 were changed from optic neuropathy; optic atrophy; LHON; LHON-like to Combined oxidative phosphorylation deficiency 48, OMIM:619012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.30 | NSUN3 | Ida Ertmanska Publications for gene: NSUN3 were set to PMID: 38790159; PMID: 40465263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.29 | NSUN3 | Ida Ertmanska Classified gene: NSUN3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.29 | NSUN3 | Ida Ertmanska Added comment: Comment on list classification: As reviewed by Neringa Jurkute, there are at least 6 unrelated families reported in literature with optic neuropathy (isolated or syndromic) and biallelic NSUN3 variants. Hence, this gene can be promoted to Green on Optic neuropathy at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.29 | NSUN3 | Ida Ertmanska Gene: nsun3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.28 | NSUN3 |
Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: NSUN3. Tag Q2_26_NHS_review tag was added to gene: NSUN3. |
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| Optic neuropathy v6.28 | NSUN3 | Ida Ertmanska reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38790159, 40465263; Phenotypes: Combined oxidative phosphorylation deficiency 48, OMIM:619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.26 | NSUN3 |
Neringa Jurkute gene: NSUN3 was added gene: NSUN3 was added to Optic neuropathy. Sources: Literature,Research Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN3 were set to PMID: 38790159; PMID: 40465263 Phenotypes for gene: NSUN3 were set to optic neuropathy; optic atrophy; LHON; LHON-like Mode of pathogenicity for gene: NSUN3 was set to Other Review for gene: NSUN3 was set to GREEN Added comment: PMID: 40465263 Biallelic NSUN3 variants were reported to be associated with an early onset severe mitochondrial disorder characterized by combined mitochondrial respiratory chain complex deficiency. 2 individuals from the paper presented with LHON-like phenotype; 5 with attenuated 2 syndromic Optic atrophy was unifying feature. PMID: 38790159 Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy Reports early onset optic neuropathy A follow up par Sources: Literature, Research |
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