| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic Diabetes v1.0 | RNU6ATAC | Gene migrated from ENSG00000221676 to ENSG00000221676 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.225 | RNU6ATAC | Zornitza Stark Phenotypes for gene: RNU6ATAC were changed from Syndromic disease, MONDO:0002254, RNU6ATAC-related; neonatal diabetes to Mendez-Johnson immunoneurologic syndrome, MIM# 621585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.224 | RNU6ATAC | Zornitza Stark edited their review of gene: RNU6ATAC: Changed phenotypes: Mendez-Johnson immunoneurologic syndrome, MIM# 621585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.217 | 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; neonatal diabetes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.216 | RNU6ATAC | Zornitza Stark Publications for gene: RNU6ATAC were set to 40975062 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.215 | RNU6ATAC | Zornitza Stark Classified gene: RNU6ATAC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.215 | RNU6ATAC | Zornitza Stark Gene: rnu6atac has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.214 | RNU6ATAC | Zornitza Stark edited their review of gene: RNU6ATAC: Changed publications: 41808409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.214 | RNU6ATAC |
Zornitza Stark changed review comment from: 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.; to: 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. |
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| Monogenic Diabetes v0.214 | Zornitza Stark Added reviews for gene RNU6ATAC from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.175 | RNU6ATAC | Chirag Patel Marked gene: RNU6ATAC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.175 | RNU6ATAC | Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.173 | Chirag Patel Copied gene RNU6ATAC from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.173 | RNU6ATAC |
Chirag Patel gene: RNU6ATAC was added gene: RNU6ATAC was added to Monogenic Diabetes. Sources: Expert Review Amber,Literature non-coding gene tags were added to gene: RNU6ATAC. 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; neonatal diabetes |
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