Intellectual disability
Gene: ARV1

ARV1 (ARV1 homolog, fatty acid homeostasis modulator)
EnsemblGeneIds (GRCh38): ENSG00000173409
EnsemblGeneIds (GRCh37): ENSG00000173409
OMIM: 611647, Gene2Phenotype
ARV1 is in 3 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed Amber to Green after clinical review, it was agreed this gene could be rated green, there is enough evidence to support gene-disease association
Created: 25 Jul 2018, 8:58 a.m.

After clinical review it was agree this gene could be green on the ID panel due to the presence of abnormal neurology / development noted at 6 weeks, prior to the onset of seizures (clinically apparent at 4 months) in one of the reported cases would support a green rating on the ID panel.
Created: 25 Jul 2018, 8:54 a.m.

Comment on list classification: Rated gene as Amber based on current information in the literature and external expert review.
Created: 24 Jul 2018, 11:17 a.m.

New Amber gene added by external expert review, who notes that there are two unrelated families reported in the literature. However, in view of a Green review made on the Genetic Epilepsy Syndromes panel for ARV1and Epileptic encephalopathy I have past onto internal clinical team for further review, as although there are functional studies and two variants reported, I am not sure if the severe developmental delay and profound Intellectual disability phenotypes which are relevant to this panel are due to the Epileptic encephalopathy and Intractable seizures, which is the more causative/predominant phenotype of this disorder
Created: 24 Jul 2018, 11:13 a.m.

Created: 24 Jul 2018, 11:13 a.m.

Panel version: 2.219

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Taking experimental data into account, there is sufficient evidence for this gene to be green on this panel. In addition to the two variants reported, 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, 12:37 p.m.

Created: 23 Jul 2018, 12:37 p.m.

Panel version: 2.207

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families reported in the literature.
Created: 21 Jun 2018, 2:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 38

Publications

25558065 27270415

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Jun 2018, 2:56 p.m.

Panel version: 2.108

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Expert Review Green

Phenotypes

Epileptic encephalopathy, early infantile, 38

OMIM

611647

Clinvar variants

Variants in ARV1

Penetrance

None

Publications

Panels with this gene