Activity
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| Intellectual disability v9.301 | OPA1 | Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: OPA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.299 | OPA1 | Arina Puzriakova reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.298 | OPA1 |
Arina Puzriakova Source NHS GMS was added to OPA1. Source Expert Review Green was added to OPA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v8.90 | OPA1 | Sarah Leigh Added comment: Comment on publications: PMID: 39233737 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.90 | OPA1 | Sarah Leigh Publications for gene: OPA1 were set to 39233737 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.89 | OPA1 | Sarah Leigh Classified gene: OPA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.89 | OPA1 | Sarah Leigh Gene: opa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.88 | OPA1 |
Sarah Leigh gene: OPA1 was added gene: OPA1 was added to Intellectual disability. Sources: Literature Q1_25_ promote_green tags were added to gene: OPA1. Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OPA1 were set to 39233737 Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, OMIM: 125250 Review for gene: OPA1 was set to GREEN Added comment: Heterozygous OPA1 variants have been associated with Optic atrophy 1 (OMIM:165500) and Optic atrophy plus syndrome, OMIM: 125250. PMID: 39233737 reports two unrelated cases of OMIM: 125250 with a "prominent neurological phenotype highly resembling clinical and neuroradiological features of Leigh-like syndrome", including hypotonia and psychomotor delay. Each child had a de novo novel heterozygous OPA1 variant (NM_ 015560.3, c.888T>A, p.Asp296Glu and c.802T>C, p.Tyr268His). The mitochondria in the fibroblasts from these cases appeared to be fragmented with a reduced ATP production compared to controls; additionally, the amount of mtDNA was reduced by about a half in comparison with controls. Complementary studies in yeast suggested that these variants are pathogenic with a possible dominant negative effect (PMID: 39233737). Sources: Literature |
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