1. Genes and Genomic Entities
  2. ATP13A3

ATP13A3

ATPase 13A3
OMIM: 610232, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ATP13A3 in Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 3.5
Latest signed off version: v3.0 (30 Nov 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Pulmonary hypertension, primary, 5, OMIM:265400
  • pulmonary hypertension, primary, autosomal recessive, MONDO:0009935