PDIA2

protein disulfide isomerase family A member 2
OMIM: 608012, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red PDIA2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bicuspid aortic valve