SMAD1

SMAD family member 1
OMIM: 601595, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red SMAD1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Pulmonary arterial hypertension
Tags
  • disputed

Red SMAD1 in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, SMAD1-related
Tags
  • disputed

Red SMAD1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Pulmonary arterial hypertension

Red SMAD1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Pulmonary arterial hypertension