Combined Immunodeficiency
Gene: RNU4ATACEnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 listCreated: 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
- OMIM
- 601428
- Clinvar variants
- Variants in RNU4ATAC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal Dysplasia_Fetal
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Skeletal dysplasia
- Fetal anomalies
- Prepair 1000+
- Microcephaly
- Microcephalic Primordial Dwarfism and Slender bone dysplasias
- Mendeliome
- Syndromic Retinopathy
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rnu4atac has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rnu4atac has been classified as Green List (High Evidence).
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