Early onset or syndromic epilepsy
Gene: RTN4IP1
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
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
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
Source Wessex and West Midlands GLH was added to RTN4IP1.
Source NHS GMS was added to RTN4IP1.
Sarah Leigh: Gene originally listed on the
This gene has been classified as Green List (High Evidence).
RTN4IP1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review
RTN4IP1 was created by Sarah Leigh