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

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