Activity
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8 actions
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| Skeletal dysplasia v8.37 | VPS33A | Eleanor Williams Tag Q1_25_ promote_green was removed from gene: VPS33A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.37 | VPS33A | Eleanor Williams reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.36 | VPS33A |
Eleanor Williams Source NHS GMS was added to VPS33A. Source Expert Review Green was added to VPS33A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v7.36 | VPS33A | Sarah Leigh Added comment: Comment on publications: PMID: 39273517 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.36 | VPS33A | Sarah Leigh Publications for gene: VPS33A were set to 27547915; 28013294; 31070736; 39273517 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.35 | VPS33A | Sarah Leigh Classified gene: VPS33A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.35 | VPS33A | Sarah Leigh Gene: vps33a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.34 | VPS33A |
Sarah Leigh gene: VPS33A was added gene: VPS33A was added to Skeletal dysplasia. Sources: Literature Q1_25_ promote_green tags were added to gene: VPS33A. Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33A were set to 27547915; 28013294; 31070736; 39273517 Phenotypes for gene: VPS33A were set to Mucopolysaccharidosis-plus syndrome, OMIM:617303; mucopolysaccharidosis-plus syndrome, MONDO:0015012 Review for gene: VPS33A was set to GREEN Added comment: There are numerous reports of the homozygous VPS33A variant: NM 022916.5: c.1492C > T, p.Arg498Trp in cases of Mucopolysaccharidosis-plus syndrome (OMIM:617303)(PMID: 27547915;28013294;31070736;39273517). Common features of this syndrome include: hepatomegaly, splenomegaly, respiratory difficulties, developmental delay including limited cognitive abilities and various skeletal issues (PMID: 27547915;28013294;31070736;39273517). Sources: Literature |
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