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Fetal anomalies

Gene: ARV1

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

3 reviews

Alice Gardham (North West Thames Genetics)

I don't know

A few fetal reports only - Prenatal abnormal findings were reported in patient 4 (hydronephrosis) and in the two fetuses. The pregnancy of a fetus (patient 5) was terminated at gestational week 22, due to megaureter, small measures of femora and humeri, and a narrow thorax detected on ultrasound. In the following pregnancy (patient 6), an increased nuchal translucency of 6.3 mm was seen at gestational week 14 and bilaterally dilated rena lpelvis was noticed at gestational week 16 + 1. Most present after birth.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 38, MIM#617020

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Comment on list classification: As reviewed by Sarah Graham, there are four cases from three different families (including two foetuses from a single family) reported with biallelic ARV1 variants and prenatal abnormalities. However, it should be noted that multiple major structural anomalies were not reported in these cases. Hence, this gene should be rated amber with the current evidence.
Created: 26 Jun 2024, 10:13 a.m. | Last Modified: 26 Jun 2024, 10:13 a.m.
Panel Version: 4.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 38, OMIM:617020

Publications

Created: 26 Jun 2024, 10:07 a.m.
Last Modified: 26 Jun 2024, 10:07 a.m.
Panel version: 5.16

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Biallelic loss-of-function variants associated with autosomal recessive developmental and epileptic encephalopathy-38 (DEE38). Biallelic variants reported prenatally in 3 families (4 fetuses) in association with abnormal scan findings, particularly renal abnormalities. Renal abnormalities are not a common postnatal finding in this disorder, so causal relationship to scan findings is unclear.

Salian 2021 PMID: 34296759, patient 3 - compound heterozygous frameshift and missense variants, p.(Pro174Alafs*14) and p.(Cys34Tyr), with prenatal hydronephrosis, postnatally profound ID, seizures, genitourinary abnormalities. Salian 2021 PMID: 34296759, Patients 5/6 (successive pregnancies of consanguineous parents) - homozygous c.674-1G>A; patient 5 termination at week 22 due to megaureter, small femora and humeri and narrow thorax; patient 6 NT 6.3 mm at week 14, bilaterally dilated renal pelvis at week 16+1. Fu 2022 PMID: 36307859 - compound het frameshift variants, p.(Glu137Asnfs*13) and p.(Pro174Alafs*14), reported in a fetus with dilation of lateral ventricles and polyhydramnios.
Sources: Literature
Created: 15 Jun 2024, 9:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 15 Jun 2024, 9:39 a.m.

Panel version: 4.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Developmental and epileptic encephalopathy 38, OMIM:617020
OMIM
611647
Clinvar variants
Variants in ARV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Added New Source, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ARV1. Publications for gene: ARV1 were updated from 34296759; 36307859 to 36307859; 34296759

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

26 Jun 2024, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

26 Jun 2024, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ARV1 were set to PMID: 36307859; 34296759

15 Jun 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

gene: ARV1 was added gene: ARV1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARV1 were set to PMID: 36307859; 34296759 Review for gene: ARV1 was set to AMBER