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| Microcephaly v1.424 | RNU6ATAC | Zornitza Stark Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes to Syndromic disease, MONDO:0002254, RNU6ATAC-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.423 | RNU6ATAC | Zornitza Stark Publications for gene: RNU6ATAC were set to 40975062 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.422 | RNU6ATAC | Zornitza Stark Classified gene: RNU6ATAC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.422 | RNU6ATAC | Zornitza Stark Gene: rnu6atac has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.421 | RNU6ATAC |
Zornitza Stark edited their review of gene: RNU6ATAC: Added comment: PMID 40975062 reports 1 individual from with biallelic RNU6ATAC variants causing childhood‑onset growth restriction, microcephaly, epilepsy, intellectual disability and ataxia. PMID 41808409 reports 3 unrelated families (3 individuals) with biallelic loss‑of‑function RNU6ATAC variants presenting with short stature, neurodevelopmental delay, epilepsy, immunodeficiency, skeletal dysplasia and other multisystem features; RNA‑seq shows marked excess of minor intron retention, confirming spliceosome dysfunction. However, note overlap in authors between the two papers ?double-counting. PMID 41864208 -- published version of the preprint referenced in previous reviews. 7 individuals from 4 families with early-onset diabetes (diagnosed aged <5 years) and immune dysregulatory features caused by bi-allelic variants in RNU6ATAC. Genotype-phenotype correlation unclear at this stage but note that of the three individuals reported in 41808409, one did not have ID/neurological features but all had immunological involvement.; Changed rating: GREEN; Changed publications: 41808409, 40975062, 41864208; Changed phenotypes: Syndromic disease, MONDO:0002254, RNU6ATAC-related |
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| Microcephaly v1.408 | RNU6ATAC | Chirag Patel Phenotypes for gene: RNU6ATAC were changed from Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related; neonatal diabetes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.407 | RNU6ATAC | Chirag Patel Tag non-coding gene tag was added to gene: RNU6ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.407 | Chirag Patel Added reviews for gene RNU6ATAC from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.406 | RNU6ATAC | Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.406 | RNU6ATAC | Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.346 | RNU6ATAC | Zornitza Stark Marked gene: RNU6ATAC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.346 | RNU6ATAC | Zornitza Stark Gene: rnu6atac has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.346 | RNU6ATAC | Zornitza Stark Classified gene: RNU6ATAC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.346 | RNU6ATAC | Zornitza Stark Gene: rnu6atac has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.345 | RNU6ATAC | Zornitza Stark reviewed gene: RNU6ATAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.345 | RNU6ATAC |
Lucy Spencer gene: RNU6ATAC was added gene: RNU6ATAC was added to Microcephaly. Sources: Literature Mode of inheritance for gene: RNU6ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU6ATAC were set to 40975062 Phenotypes for gene: RNU6ATAC were set to Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related Review for gene: RNU6ATAC was set to AMBER Added comment: PMID: 40975062 1 patient compound heterozygous for n.36T>G and n.28C>T. Has short stature, microcephaly, hypotonia, neurodevelopmental delay, ID, seizures, ataxia, ventriculomegaly, syndactyly, nystagmus and oculomotor apraxia. Identified in a cohort of individuals with an excess of significant intron retention outliers in minor intron containing genes which are usually removed by the minor spliceosome of which RNU6ATAC is a part (as is RNU4ATAC). Proband had no candidate variants in RNU4ATAC or RNU12. Both RNU6ATAC variants are in a highly conserved 39bp region, and affect nucleotides predicted to be important for binding to U4ATAC. Sources: Literature |
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