ROBO4

roundabout guidance receptor 4
OMIM: 607528, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber ROBO4 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aortic valve disease 8, MIM# 618496
  • bicuspid aortic valve
  • ascending aortic aneurysm
  • ascending aorta dilatation

Amber ROBO4 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aortic valve disease 8, MIM# 618496
  • bicuspid aortic valve
  • ascending aortic aneurysm
  • ascending aorta dilatation

Amber ROBO4 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aortic valve disease 8, MIM#618496
  • bicuspid aortic valve
  • ascending aortic aneurysm
  • ascending aorta dilatation

Amber ROBO4 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Literature
Phenotypes
  • Aortic valve disease 3- MIM#618496