Activity
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9 actions
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| Intellectual disability v8.127 | ATXN7L3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ATXN7L3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | ATXN7L3 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: ATXN7L3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | ATXN7L3 | Sarah Leigh commented on gene: ATXN7L3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | ATXN7L3 |
Sarah Leigh Source NHS GMS was added to ATXN7L3. Source Expert Review Green was added to ATXN7L3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v8.36 | ATXN7L3 |
Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ATXN7L3. Tag Q3_24_MOI was removed from gene: ATXN7L3. |
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| Intellectual disability v7.3 | ATXN7L3 | Sarah Leigh Classified gene: ATXN7L3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.3 | ATXN7L3 | Sarah Leigh Gene: atxn7l3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.2 | ATXN7L3 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATXN7L3. Tag Q3_24_NHS_review tag was added to gene: ATXN7L3. Tag Q3_24_MOI tag was added to gene: ATXN7L3. |
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| Intellectual disability v7.2 | ATXN7L3 |
Sarah Leigh gene: ATXN7L3 was added gene: ATXN7L3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN7L3 were set to 38753057; 33731875 Phenotypes for gene: ATXN7L3 were set to syndromic neurodevelopmental disorder Review for gene: ATXN7L3 was set to GREEN Added comment: ATXN7L3 variants are not associated with a phenotype in OMIM or Gen2Phen. PMID: 38753057 reports five monoallelic ATXN7L3 variants in nine unrelated cases. The variants were de novo, where this could be established (8/9 cases). Common features in the cases were: global developmental delay (8/9), dysmorphic features (7/9), hypotonia (7/9), strabismus (4/6), abnormal brain MRI (6/8). ATXN7L3 protein levels were reduced and deubiquitylation was impaired, resulting in increased levels of histone H2Bub1 in the fibroblasts of an affected individual carrying the recurrent variant: NM_001382309.1: c.340C>T; p.(Arg114Ter). This finding was consistent with the increased H2Bub1 levels in Atxn7l3-null mouse embryos, who have developmental delay and embryonic lethality (PMID: 33731875). Sources: Literature |
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