Combined Immunodeficiency

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 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Conditions caused by this gene are classified as Immuno-osseus dysplasias by IUIS (under CID with syndromic features). >3 unrelated cases have been reported.
Sources: Expert list
Created: 18 Mar 2021, 3:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lowry-Wood syndrome MIM#226960; Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710; Roifman syndrome MIM#616651

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
  • Expert list
Phenotypes
  • Lowry-Wood syndrome MIM#226960
  • Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710
  • Roifman syndrome MIM#616651
Tags
non-coding gene
OMIM
601428
Clinvar variants
Variants in RNU4ATAC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: RNU4ATAC.

18 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rnu4atac has been classified as Green List (High Evidence).

18 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rnu4atac has been classified as Green List (High Evidence).

18 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RNU4ATAC was added gene: RNU4ATAC was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 32048120; 26522830; 29265708 Phenotypes for gene: RNU4ATAC were set to Lowry-Wood syndrome MIM#226960; Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710; Roifman syndrome MIM#616651 Review for gene: RNU4ATAC was set to GREEN gene: RNU4ATAC was marked as current diagnostic