CAPNS1

calpain small subunit 1
OMIM: 114170, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber CAPNS1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related

Amber CAPNS1 in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related