Early onset or syndromic epilepsy

Gene: RUSC2

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: Amber.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

I don't know

Limited evidence. Three cases from two families were reported in PMID 27612186 where the patients presented with several features including refractory seizures- homozygous truncating variants were identified.

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
Mental retardation 61, 617773

Publications

• 27612186

Red List (low evidence)

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least 2 unrelated cases. No functional studies have been reported, although authors of PMID 27612186 suggest that p.R866* results in total loss of function as the sibs biallelic with this variant have a more severe phenotype than the case who is biallelic for p.R1318*, which they conclude results in partial loss of function. Refractory seizures were seen in the sibs with p.R866*.

Created: 13 Jul 2020, 4:20 p.m. | Last Modified: 13 Jul 2020, 4:20 p.m.

Panel Version: 2.121

Comment when marking as ready: Based on reviewers' comments.

Created: 11 Dec 2018, 1:34 p.m.

I don't know

Seizures are part of the phenotype, but only two families reported to date.

Created: 20 Aug 2018, 1 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 61, MIM#617773

Publications

• 27612186