Early onset or syndromic epilepsy
Gene: RNU4ATAC
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
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
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.
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
Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I 210710 to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
Source Wessex and West Midlands GLH was added to RNU4ATAC.
Source NHS GMS was added to RNU4ATAC.
Zornitza Stark: Seizures are part of the pheno
Gene: rnu4atac has been classified as Amber List (Moderate Evidence).
Publications for gene: RNU4ATAC were set to 21474761; 23794361; 22786707
Publications for gene: RNU4ATAC were set to
Mode of inheritance for gene: RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I 210710
Expert Review Amber was added to RNU4ATAC. Panel: Genetic Epilepsy Syndromes
RNU4ATAC was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
RNU4ATAC was created by Sarah Leigh