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Intellectual disability

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 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.
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.

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.

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Epileptic encephalopathy, early infantile, 38
OMIM
611647
Clinvar variants
Variants in ARV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ARV1.

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

24 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

23 Jul 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

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

21 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

ARV1 was added to Intellectual disability panel. Sources: Literature

21 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

ARV1 was created by Zornitza Stark