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| Intellectual disability v9.51 | RNU5A-1 | Arina Puzriakova Classified gene: RNU5A-1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.51 | RNU5A-1 | Arina Puzriakova Added comment: Comment on list classification: Rating Red awaiting further evidence - limited number of cases currently reported with variable neurodevelopmental phenotype. Variants have been classified as VUS and additional evidence is required to ascertain pathogenicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.51 | RNU5A-1 | Arina Puzriakova Gene: rnu5a-1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.50 | RNU5A-1 |
Arina Puzriakova gene: RNU5A-1 was added gene: RNU5A-1 was added to Intellectual disability. Sources: Literature locus-type-rna-small-nuclear tags were added to gene: RNU5A-1. Mode of inheritance for gene: RNU5A-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU5A-1 were set to 40379786 Phenotypes for gene: RNU5A-1 were set to Neurodevelopmental disorder, MONDO:0700092 Added comment: PMID: 40379786 (2025) - three unrelated individuals with de novo variants in the RNU5A-1 gene (classified as VUS) and a neurodevelopmental disorder. Six individuals with rare de novo variants were identified in total but clinical details were only available for 3/6. Of these three individuals, two harboured the same variant (n.40_41insA) on the maternal allele, while the third individual harboured a different variant (n.39del) but also on the 5′ loop I domain of RNU5A-1. Clinical data showed neurodevelopmental abnormalities (mild ID (2), severe ID (1), epilepsy (2), brain MRI abnormalities (1)) with variable congenital malformations. Sources: Literature |
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