Thoracic aortic aneurysm and dissection

Gene: HEY2

No list

HEY2 (hes related family bHLH transcription factor with YRPW motif 2)
EnsemblGeneIds (GRCh38): ENSG00000135547
EnsemblGeneIds (GRCh37): ENSG00000135547
OMIM: 604674, Gene2Phenotype
HEY2 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance).

Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies.
Sources: Literature
Created: 1 Feb 2021, 9:16 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
congenital heart defects and thoracic aortic aneurysms

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
Phenotypes
  • congenital heart defects and thoracic aortic aneurysms
OMIM
604674
Clinvar variants
Variants in HEY2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: HEY2 was added gene: HEY2 was added to Thoracic aortic aneurysm and dissection. Sources: Literature Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: HEY2 were set to 32820247 Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms Review for gene: HEY2 was set to RED