ERBB2

erb-b2 receptor tyrosine kinase 2
OMIM: 164870, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ERBB2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.447

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital heart disease - left ventricular outflow tract obstruction defects
  • MONDO:0005453

Amber ERBB2 in Mendeliome


Version 1.2656

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Visceral neuropathy, familial, 2, autosomal recessive, MIM# 619465
  • Congenital heart disease - left ventricular outflow tract obstruction defects
  • MONDO:0005453

Red ERBB2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.545

review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services