Early onset or syndromic epilepsy

Gene: RARS2

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: Green.

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

Panel Version: 1.189

Green List (high evidence)

AD susceptibility to acute infection induced encephalopathy 3 (IIAE3). Molecular genetics on OMIM - Neilson et al 2009 - suggest that mutations in RANBP2 gene predispose to acute necrotising encephalopathy following febrile illness - but by themselves are insufficient to make the phenotype fully penetrant and additional genetic and environmental factors are required. In addition 4 more affected famiies did not carry RANBP2 mutations

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
Pontocerebellar hypoplasia, 611523

Publications

• 20635367

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 4 unrelated cases, in which seizures are a phenotypic feature.

Created: 26 Nov 2018, 4:23 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this brain development disorder.

Created: 20 Aug 2018, 10:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 6, MIM#611523

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