IUGR and IGF abnormalities
Gene: RNU4ATAC
RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 16 panels
3 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 4:52 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- MOPD I
- Tags
- OMIM
- 601428
- Clinvar variants
- Variants in RNU4ATAC
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Neonatal diabetes
- Bleeding and platelet disorders
- Severe microcephaly
- COVID-19 research
- Limb disorders
- Monogenic short stature
- Skeletal dysplasia
- Retinal disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- IUGR and IGF abnormalities
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
- DDG2P
History Filter Activity
14 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)RNU4ATAC was added to IUGR and IGF abnormalitiespanel. Sources: Literature
25 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)RNU4ATAC was created by PhilMurray