| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.195 | RNU4ATAC | Bryony Thompson Marked gene: RNU4ATAC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.195 | RNU4ATAC | Bryony Thompson Gene: rnu4atac has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.195 | RNU4ATAC | Bryony Thompson Classified gene: RNU4ATAC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.195 | RNU4ATAC | Bryony Thompson Gene: rnu4atac has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.194 | RNU4ATAC |
Bryony Thompson gene: RNU4ATAC was added gene: RNU4ATAC was added to Ataxia. Sources: Literature Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 40935604; 36802443 Phenotypes for gene: RNU4ATAC were set to RNU4ATAC spectrum disorder, MONDO:0100558 Review for gene: RNU4ATAC was set to GREEN Added comment: PMID 36802443 reports five individuals from four families and PMID 40935604 reports three individuals from three families, all with biallelic RNU4ATAC loss‑of‑function variants causing a Joubert syndrome‑like disorder characterised by ataxia, the molar‑tooth sign, cerebellar vermis hypoplasia, hypotonia, nystagmus and developmental delay (some with skeletal involvement); functional studies in patient fibroblasts and zebrafish confirm loss‑of‑function. Sources: Literature |
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