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Genetic Epilepsy v2.0 RNU6ATAC Gene migrated from ENSG00000221676 to ENSG00000221676 (gene set migration)
Genetic Epilepsy v1.420 RNU6ATAC Zornitza Stark Phenotypes for gene: RNU6ATAC were changed from Syndromic disease, MONDO:0002254, RNU6ATAC-related to Mendez-Johnson immunoneurologic syndrome, MIM# 621585
Genetic Epilepsy v1.419 RNU6ATAC Zornitza Stark edited their review of gene: RNU6ATAC: Changed phenotypes: Mendez-Johnson immunoneurologic syndrome, MIM# 621585
Genetic Epilepsy v1.398 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
Genetic Epilepsy v1.397 RNU6ATAC Zornitza Stark Publications for gene: RNU6ATAC were set to 40975062
Genetic Epilepsy v1.396 RNU6ATAC Zornitza Stark Classified gene: RNU6ATAC as Green List (high evidence)
Genetic Epilepsy v1.396 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Green List (High Evidence).
Genetic Epilepsy v1.395 RNU6ATAC Zornitza Stark Classified gene: RNU6ATAC as Green List (high evidence)
Genetic Epilepsy v1.395 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Green List (High Evidence).
Genetic Epilepsy v1.394 Zornitza Stark Added reviews for gene RNU6ATAC from panel Mendeliome
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.368 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.367 RNU6ATAC Chirag Patel Classified gene: RNU6ATAC as Amber List (moderate evidence)
Genetic Epilepsy v1.367 RNU6ATAC Chirag Patel Gene: rnu6atac has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.367 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
Genetic Epilepsy v1.366 RNU6ATAC Chirag Patel Tag non-coding gene tag was added to gene: RNU6ATAC.
Genetic Epilepsy v1.366 Chirag Patel Added reviews for gene RNU6ATAC from panel Mendeliome
Genetic Epilepsy v1.281 RNU6ATAC Zornitza Stark Marked gene: RNU6ATAC as ready
Genetic Epilepsy v1.281 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.242 RNU6ATAC Zornitza Stark Classified gene: RNU6ATAC as Red List (low evidence)
Genetic Epilepsy v1.242 RNU6ATAC Zornitza Stark Gene: rnu6atac has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.241 RNU6ATAC Lucy Spencer gene: RNU6ATAC was added
gene: RNU6ATAC was added to Genetic Epilepsy. 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 RED
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