Inherited bleeding disorders

Gene: RNU4ATAC

Green List (high evidence)

RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Platelet disorder; Roifman Syndrome with thrombocytopenia and Primary immunodeficiency

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Roifman Syndrome with thrombocytopenia and Primary immunodeficiency
Tags
locus-type-rna-small-nuclear
OMIM
601428
Clinvar variants
Variants in RNU4ATAC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Aug 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for RNU4ATAC were set to 26522830;28623346

9 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Aug 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

RNU4ATAC was created by BRIDGE

9 Aug 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

RNU4ATAC was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene