Early onset or syndromic epilepsy

Gene: RUBCN

Red List (low evidence)

Seidahmed et al. 2020 (PMID: 32450808) identified a second consanguineous Saudi family with 2 sibs harbouring the same c.2624delC variant, as previously described in another family by Asoum et al. 2010. Autozygosity mapping confirmed this to be a founder variant in the Arab population. Similarities in the clinical phenotype in both families included early-onset cerebellar ataxia and developmental delay - however, the two sibs in the later study did not have a history of seizures.

Created: 16 Jun 2021, 4:14 p.m. | Last Modified: 16 Jun 2021, 4:14 p.m.

Panel Version: 2.374

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705

Publications

• 32450808

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: John Taylor and Helen Lord. 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)

AR ?SCA15 - Asoum et al, 2010 - consang Saudi family - 3 sisters onset of cerebellar ataxia in early childhood, 2 sisters more severe and both developed epilepsy at age 7 months. Jhom mutation identified - segregated with disease and het carriers unaff.

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
?Spinocerebellar ataxia 15, 615705

Red List (low evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as possible Gen2Phen gene. At least 1 variant.

Created: 10 Apr 2018, 4:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spinocerebellar ataxia, autosomal recessive 15 615705

Publications

• 20826435