Activity
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| Intellectual disability v8.142 | RSPRY1 |
Arina Puzriakova Tag watchlist was removed from gene: RSPRY1. Tag Q1_25_ promote_green tag was added to gene: RSPRY1. |
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| Intellectual disability v8.142 | RSPRY1 | Arina Puzriakova Classified gene: RSPRY1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.142 | RSPRY1 | Arina Puzriakova Added comment: Comment on list classification: At least 5 unrelated families have been reported in the literature with biallelic variants in this gene, presenting with spondyloepimetaphyseal dysplasia. Sufficient to rate Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.142 | RSPRY1 | Arina Puzriakova Gene: rspry1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.141 | RSPRY1 | Arina Puzriakova Added comment: Comment on publications: PMID: 39940902 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 v8.141 | RSPRY1 | Arina Puzriakova Publications for gene: RSPRY1 were set to 26365341; 30063090; 38562122; 39940902 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.140 | RSPRY1 | Arina Puzriakova Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.139 | RSPRY1 | Arina Puzriakova Publications for gene: RSPRY1 were set to 26365341; 30914295 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.138 | RSPRY1 | Arina Puzriakova reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26365341, 30063090, 38562122, 39940902; Phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | RSPRY1 | Catherine Snow Tag watchlist tag was added to gene: RSPRY1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | RSPRY1 | Catherine Snow Mode of inheritance for gene RSPRY1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.978 | RSPRY1 |
Catherine Snow gene: RSPRY1 was added gene: RSPRY1 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: RSPRY1 was set to Publications for gene: RSPRY1 were set to 26365341; 30914295 Phenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 |
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