Syndromic Retinopathy
Gene: RNU4ATAC
Retinal dystrophy reported.
Sources: Expert ReviewCreated: 24 Jan 2022, 9:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Roifman syndrome, MIM# 616651; Lowry-Wood syndrome, MIM# 226960
Publications
PMID: 23794361; total of 40 patients with MOPD1
PMID: 26522830; 4 unrelated families with Roifman Syndrome
PMID: 30455926; total of 13 patients with Roifman SyndromeCreated: 14 Apr 2020, 5:20 a.m. | Last Modified: 14 Apr 2020, 5:20 a.m.
Panel Version: 0.2275
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651)
Publications
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 has been classified as Green List (High Evidence).
gene: RNU4ATAC was added gene: RNU4ATAC was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 2801768; 29265708; 30368667 Phenotypes for gene: RNU4ATAC were set to Roifman syndrome, MIM# 616651; Lowry-Wood syndrome, MIM# 226960 Review for gene: RNU4ATAC was set to GREEN