SMAD5

SMAD family member 5
OMIM: 603110, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
No list SMAD5 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • congenitad heart defect
  • patent ductus arteriosus
  • ventricular septal defect
  • hypoplastic left heart
Amber SMAD5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.7
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • congenital heart disease