Combined Immunodeficiency
Gene: RNU4ATAC
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
Tag non-coding gene tag was added to gene: RNU4ATAC.
Gene: rnu4atac has been classified as Green List (High Evidence).
Gene: rnu4atac has been classified as Green List (High Evidence).
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