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Fetal anomalies

Gene: ETV2

Red List (low evidence)

ETV2 (ETS variant 2)
EnsemblGeneIds (GRCh38): ENSG00000105672
EnsemblGeneIds (GRCh37): ENSG00000105672
OMIM: 609358, Gene2Phenotype
ETV2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

1 family with 4 fetus-es all cHet for a fs (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
Sources: Expert Review
Created: 30 May 2022, 7:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
multiple fetal anomalies; congenital heart disease MONDO:000545, ETV2-related; vertebral malformations

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • multiple fetal anomalies
  • congenital heart disease MONDO:000545, ETV2-related
  • vertebral malformations
OMIM
609358
Clinvar variants
Variants in ETV2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: etv2 has been classified as Red List (Low Evidence).

30 May 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETV2 was added gene: ETV2 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETV2 were set to 33359164 Phenotypes for gene: ETV2 were set to multiple fetal anomalies; congenital heart disease MONDO:000545, ETV2-related; vertebral malformations Review for gene: ETV2 was set to RED