Inherited bleeding disordersGene: RNU4ATAC
Comment on publications: added publication to support phenotype
Created: 9 Aug 2017, 1:42 p.m.
added tag locus-type-rna-small-nuclear
Created: 9 Aug 2017, 1:38 p.m.
Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE project
Created: 9 Aug 2017, 1:37 p.m.
Ensembl ID is ENSG00000264229 (biotype small nuclear RNA)
Created: 9 Aug 2017, 1:36 p.m.
Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Platelet disorder; Roifman Syndrome with thrombocytopenia and Primary immunodeficiency
Variants in this GENE are reported as part of current diagnostic practice
Publications for RNU4ATAC were set to 26522830;28623346
This gene has been classified as Green List (High Evidence).
RNU4ATAC was created by BRIDGE
RNU4ATAC was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene