Early onset or syndromic epilepsy
Gene: FRRS1L
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 Early infantile epileptic encepalopathy. 8 affecteds from 4 families - all had hom mutations in this gene, 3 predicted to produce a truncated protein product. Another large consanguineous family also had a hom truncating variant which tracked with disease in 6 affecteds. Another study by Brechet et al identified 3 more unrealted families with hom variants. 3 unrelated families all have the same hom change (all Saudi families ?founder mutation).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
Epileptic encephalopathy, early infantile, 616981
Publications
Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.Created: 29 Nov 2018, 11:49 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 29 Nov 2018, 11:48 a.m.
Comment on mode of inheritance: Added MOI from external clinical review and publicationsCreated: 29 Nov 2018, 11:33 a.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 29 Nov 2018, 11:32 a.m.
Multiple unrelated families reported with this EE phenotype.Created: 14 Aug 2018, 12:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 37, MIM#616981
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to FRRS1L.
Source NHS GMS was added to FRRS1L.
Zornitza Stark: Multiple unrelated families re
Gene: frrs1l has been classified as Green List (High Evidence).
Gene: frrs1l has been classified as Green List (High Evidence).
Publications for gene: FRRS1L were set to
Mode of inheritance for gene: FRRS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRRS1L were changed from to Epileptic encephalopathy, early infantile 37, 616981
Expert Review Amber was added to FRRS1L. Panel: Genetic Epilepsy Syndromes
FRRS1L was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
FRRS1L was created by Sarah Leigh