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  3. ARV1
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Intellectual disability syndromic and non-syndromic

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ACAT-related enzyme 2 required for viability 1 (ARV1) encodes a transmembrane lipid transporter of the endoplasmic reticulum, which is presented in all eukaryotes and in plants. Deficiency of ARV1 is clinically presented as autosomal recessive developmental and epileptic encephalopathy 38 (DEE38).
Palmer et al. (2016) reported a female infant, born of consanguineous Lebanese parents, with DEE38. By 6 weeks of life she had roving eye movements, visual inattention, hypermetropia, retinal dystrophy, central hypotonia, peripheral hypertonia, extensor posturing, and dystonia. Variant reported with functional study -c.294 + 1G > A homozygous

Alazami et al. (2015) and Palmer et al. (2016) reported a highly consanguineous Saudi Arabian family (08DGRC00077) in which 3 children had early-onset epileptic encephalopathy, profound intellectual disability, ataxia, and unspecified visual impairment. One of the patients died at age 4 years. Variant reported- c.565G > A p.(Gly189Arg)

Anton Karabino (2022) reported Dilated cardiomyopathy is a part of the ARV1-associated phenotype. c.554_556delTAT, p.L185del) in a 21-year old Caucasian man with developmental delay, intellectual disability, seizures, walking and speech impairments, as well as with a dilated cardiomyopathy (DCM),

DCM was also reported in two cases of c.565G > A p.(Gly189Arg)
Created: 1 Sep 2023, 8:09 a.m. | Last Modified: 1 Sep 2023, 8:09 a.m.
Panel Version: 0.5360

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 38, MIM# 617020

Publications

Created: 1 Sep 2023, 8:09 a.m.
Last Modified: 1 Sep 2023, 8:09 a.m.
Panel version: 0.5360

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Developmental and epileptic encephalopathy 38, MIM# 617020
OMIM
611647
Clinvar variants
Variants in ARV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, MIM# 617020

1 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARV1 were set to

1 Sep 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARV1 was added gene: ARV1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARV1 was set to Unknown