Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: ARV1

Green List (high evidence)

ARV1 (ARV1 homolog, fatty acid homeostasis modulator)
EnsemblGeneIds (GRCh38): ENSG00000173409
EnsemblGeneIds (GRCh37): ENSG00000173409
OMIM: 611647, Gene2Phenotype
ARV1 is in 2 panels

4 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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.

Arianna Tucci (Genomics England Curator)

I don't know

Associated with the phenotype in OMIM, two families reported to date, therefore marked as amber and watchlist tag added
Created: 5 Jul 2018, 9:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 38 617020

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 38 617020
Tags
watchlist
OMIM
611647
Clinvar variants
Variants in ARV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ARV1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ARV1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: Associated with the phenotype

23 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: arv1 has been classified as Green List (High Evidence).

23 Jul 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ARV1 were set to 27270415; 25558065; 26479315

17 Jul 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ARV1 were set to Epileptic encephalopathy, early infantile, 38 617020

17 Jul 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ARV1 were set to 27270415; 25558065

17 Jul 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ARV1 was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: arv1 has been classified as Amber List (Moderate Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to ARV1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ARV1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ARV1 was created by Sarah Leigh