This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: RNU4ATAC
RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 16 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Changed rating to green as Tracy Lester confirmed it should have a green rating.Created: 18 Apr 2019, 1:56 p.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Slender bone dysplasia gp of skeletal dysplasia - >3 cases, so should be green in relation to skeletal dysplasia. Previous amber entry on my behalf is incorrect.Created: 18 Apr 2019, 1:53 p.m.
Slender bone dysplasia gp of SD - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Roifman syndrome 616651
- Microcephalic osteodysplastic primordial dwarfism, type I 210710
- OMIM
- 601428
- Clinvar variants
- Variants in RNU4ATAC
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Bleeding and platelet disorders
- Severe microcephaly
- Neonatal diabetes
- COVID-19 research
- Limb disorders
- Skeletal dysplasia
- Monogenic short stature
- Retinal disorders
- Intellectual disability
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
History Filter Activity
18 Apr 2019, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: rnu4atac has been classified as Green List (High Evidence).
6 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: RNU4ATAC was added gene: RNU4ATAC was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNU4ATAC were set to Roifman syndrome 616651; Microcephalic osteodysplastic primordial dwarfism, type I 210710