SMAD1

SMAD family member 1
OMIM: 601595, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red SMAD1 in Pulmonary arterial hypertension


Level 2: Respiratory
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • heritable pulmonary arterial hypertension
  • HPAH