Growth failure
Gene: RNU4ATAC
Well established gene-disease associations with over 40 families reported with MOPD, more than 10 with Roifman and 4 with Lowry-Wood. All three conditions have short stature as a prominent feature. Note phenotypic overlap, may not be distinct disorders but rather represent a spectrum.Created: 20 Aug 2021, 3:42 a.m. | Last Modified: 20 Aug 2021, 3:42 a.m.
Panel Version: 0.251
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Publications
Tag non-coding gene tag was added to gene: RNU4ATAC.
Gene: rnu4atac has been classified as Green List (High Evidence).
Phenotypes for gene: RNU4ATAC were changed from MOPD I to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Publications for gene: RNU4ATAC were set to 21474760
Gene: rnu4atac has been classified as Green List (High Evidence).
gene: RNU4ATAC was added gene: RNU4ATAC was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 21474760 Phenotypes for gene: RNU4ATAC were set to MOPD I