Severe microcephaly
Gene: RNU4ATACEnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 16 panels
3 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 4:52 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Other
- Phenotypes
-
- Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
- Lowry-Wood syndrome, OMIM:226960
- Microcephalic primordial dwarfism
- Tags
- OMIM
- 601428
- Clinvar variants
- Variants in RNU4ATAC
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Limb disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Retinal disorders
- DDG2P
- Monogenic short stature
- COVID-19 research
- Neonatal diabetes
- IUGR and IGF abnormalities
- Inherited bleeding disorders
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Severe microcephaly
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I; Microcephalic osteodysplastic primordial dwarfism, type I, 210710; MPD; microcephalic primordial dwarfism to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Lowry-Wood syndrome, OMIM:226960; Microcephalic primordial dwarfism
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RNU4ATAC.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for RNU4ATAC were set to 21474760; 20301772
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)RNU4ATAC was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Expert list
Added New Source
Rebecca Foulger (Genomics England curator)RNU4ATAC was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)RNU4ATAC was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)RNU4ATAC was created by rfoulger