1. Panels
  2. Fetal anomalies
  3. ETV2
Genes in panel
Prev Next

Fetal anomalies

Gene: ETV2

Amber List (moderate evidence)
ETV2 (ETS variant 2)
EnsemblGeneIds (GRCh38): ENSG00000105672
EnsemblGeneIds (GRCh37): ENSG00000105672
OMIM: 609358, Gene2Phenotype
ETV2 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Natalie Chandler (North Thames GLH)

I don't know

Red aus panelapp. PMID: 333591641 family with 4 fetuses all compound heterozygous for a frameshift (NMD-predicted) and a missense 3/4 vertebral malformations, 2/4 Tetralogy of Fallot, 1/4 arterial septal defect, 1/4 ventricular septal defect, aortic dilatation, 1/4 pre-axial polydactyly.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital heart defects, vertebral abnormalities and preaxial polydactyly

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • congenital heart defects, vertebral abnormalities and preaxial polydactyly
OMIM
609358
Clinvar variants
Variants in ETV2
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes congenital heart defects, vertebral abnormalities and preaxial polydactyly for gene: ETV2

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ETV2 was added gene: ETV2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal