ATP13A3

ATPase 13A3
OMIM: 610232, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ATP13A3 in Mendeliome


Version 1.3512

1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Primary pulmonary hypertension 5, MIM#265400

Green ATP13A3 in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 1.45

3 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Primary pulmonary hypertension 5, MIM#265400