Early onset or syndromic epilepsy

Gene: RTN4IP1

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)

AR optic atrophy 10, with or without ataxia, mental retardation and seizures. According to OMIM generalised seizures are a rare feature. I family reported on OMIM by Angebault et al - 2 sibs (1 had seizures)with a hom missense variant. They also found this variant in two simplex case individuals of Roma origin ? founder effect. Also 2 non-consang sisters compound het for missense and nonsense variants.

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
Optic atrophy 10 with or without ataxia mental retardation and seizures, 616732

Publications

• 26593267
• 29181510

Green List (high evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported in 12 families, seizures were reported in at least 4 families.

Created: 10 Apr 2018, 3:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732

Publications

• 29181510
• 26593267