HEY2

hes related family bHLH transcription factor with YRPW motif 2
OMIM: 604674, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red HEY2 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital heart defects and thoracic aortic aneurysms

Red HEY2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital heart defects and thoracic aortic aneurysms

Red HEY2 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital heart disease MONDO:0005453
  • thoracic aortic aneurysms

Red HEY2 in Fetal anomalies


Version 1.255

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital heart defects and thoracic aortic aneurysms