Syndromic Retinopathy

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Retinal dystrophy reported.
Sources: Expert Review
Created: 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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 23794361; total of 40 patients with MOPD1
PMID: 26522830; 4 unrelated families with Roifman Syndrome
PMID: 30455926; total of 13 patients with Roifman Syndrome
Created: 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

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.

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jan 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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