Syndromic Retinopathy
Gene: RNU4ATACEnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Ain Roesley (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Roifman syndrome, MIM# 616651
- Lowry-Wood syndrome, MIM# 226960
- OMIM
- 601428
- Clinvar variants
- Variants in RNU4ATAC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Skeletal dysplasia
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnu4atac has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnu4atac has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnu4atac has been classified as Green List (High Evidence).
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