Early onset or syndromic epilepsy

Gene: RNU4ATAC

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

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

• 22581640

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.

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