Thoracic aortic aneurysm and dissection

Gene: HEY2

Red List (low evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Created: 16 Apr 2021, 12:28 p.m. | Last Modified: 16 Apr 2021, 12:28 p.m.
Panel Version: 1.5

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
  • Expert Review Red
Phenotypes
  • congenital heart defects, multiple type, MONDO:0000119
  • thoracic aortic aneurysm, MONDO:0005396
OMIM
604674
Clinvar variants
Variants in HEY2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hey2 has been classified as Red List (Low Evidence).

16 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HEY2 were changed from congenital heart defects and thoracic aortic aneurysms to congenital heart defects, multiple type, MONDO:0000119; thoracic aortic aneurysm, MONDO:0005396

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