SMAD9

SMAD family member 9
OMIM: 603295, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SMAD9 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary hypertension, primary, 2 MIM#615342

Green SMAD9 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary hypertension, primary, 2 MIM#615342

Green SMAD9 in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pulmonary hypertension, primary, 2 MIM#615342

Amber SMAD9 in Cerebral vascular malformations


Level 2: Neurology and neurodevelopmental disorders
Version 0.39

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Amber

    Red SMAD9 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 SMAD9 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