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Genetic epilepsy syndromes

Gene: RNU4ATAC

Amber List (moderate evidence)

RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 13 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Insufficient evidence. Phenotypes are almost all either Roifman syndrome or Microcephalic primordial dwarfism - both osteodysplastic conditions.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I, 210710 ; Roifman syndrome, 616651

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Three case reported of Microcephalic osteodysplastic primordial dwarfism, type I 210710 ()MOPD1 with seizures as part of their phenotype (PMID 21474761;23794361;22786707) . However, not clear from pmid 23794361 & 22786707 whether the cases were related or not. Thirteen more cases of MOPD1 with RNU4ATAC variants were reported (PMID 29370840, 27591150, 27312855, 26641461, 27040866, 25735804, 22581640), but seizures were not reported in any of these.
Created: 29 Nov 2018, 3:40 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this spliceosomal disorder.
Created: 20 Aug 2018, 10:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I 210710
OMIM
601428
Clinvar variants
Variants in RNU4ATAC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to RNU4ATAC.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RNU4ATAC.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

29 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rnu4atac has been classified as Amber List (Moderate Evidence).

29 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RNU4ATAC were set to 21474761; 23794361; 22786707

29 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RNU4ATAC were set to

29 Nov 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Nov 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I 210710

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to RNU4ATAC. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RNU4ATAC was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

RNU4ATAC was created by Sarah Leigh