Early onset or syndromic epilepsy
Gene: ARV1As a result of watchlist tag audit the watchlist tag was removed from ARV1- this is now a green gene with sufficient evidence/reviewCreated: 13 Jan 2020, 1:28 p.m. | Last Modified: 13 Jan 2020, 1:28 p.m.
Panel Version: 2.0
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 EIEE38. Alzami et al 2015 & Palmer et al 2016 - highly consanguineous Saudi family in which 3 children had EIEE, profound intellectual disability, ataxia and inspecified visual impairment - hom missense variant in all affected, no functional work. Palmer et al, 2016 also reported femal infant of consang Lebanese parents - epilepsy presented at 4 months, died aged 12 months - hom splice site variant. Functional work showed that the aplice variant was unable to rescue a growth defect in arv1-null yeast, whereas the G189R mutation retained some activity. Suggest LOF. Farwell-Hagman - hom splice site variant was identifed in a patient with an undiagnosied neurodevelopmental disorder - classed as the suspected candidate.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, 617020
Publications
Comment on list classification: Taking experimental data into account, there is sufficient evidence for this gene to be green on this panel. PMID 27270415 reported functional studies which demonstrated that the splice site variant c.294+1G-A was unable to rescue a growth defect in arv1-null yeast, whereas the c.565G>A, p.G189R retained some activity. Furthermore, Arv1-null mice had a phenotype that reflected Epileptic encephalopathy, early infantile, 38 617020 and died prematurely PMID 27270415. Gene rating approved by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator).Created: 23 Jul 2018, 12:30 p.m.
Although only two variants have been reported in two families, supportive in vitro studies are presented together with an animal model, whose phenotype matches the relevant EE.Created: 17 Jul 2018, 10:05 a.m.
Associated with the phenotype in OMIM, two families reported to date, therefore marked as amber and watchlist tag addedCreated: 5 Jul 2018, 9:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 38 617020
Tag watchlist was removed from gene: ARV1.
Source Wessex and West Midlands GLH was added to ARV1.
Source NHS GMS was added to ARV1.
Arianna Tucci: Associated with the phenotype
Gene: arv1 has been classified as Green List (High Evidence).
Publications for gene: ARV1 were set to 27270415; 25558065; 26479315
Phenotypes for gene: ARV1 were set to Epileptic encephalopathy, early infantile, 38 617020
Publications for gene: ARV1 were set to 27270415; 25558065
Mode of inheritance for gene: ARV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: arv1 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to ARV1. Panel: Genetic Epilepsy Syndromes
ARV1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ARV1 was created by Sarah Leigh