SMAD9

SMAD family member 9
OMIM: 603295, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber SMAD9 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.51
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Amber
  • Expert list

Red SMAD9 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Pulmonary hypertension, primary, 2 615342

    Red SMAD9 in Familial pulmonary fibrosis

    Level 3: Interstitial lung disorders
    Level 2: Respiratory disorders
    Version 1.16

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Pulmonary Disease

    Red SMAD9 in GI tract tumours

    Level 3: GI tract
    Level 2: Tumour syndromes
    Version 1.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Hamartomatous Polyposis
    • Gastrointestinal Ganglioneuromas

    Green SMAD9 in Pulmonary arterial hypertension

    Level 3: Pulmonary heart disease
    Level 2: Cardiovascular disorders
    Version 2.13
    Latest signed off version: v2.2 (2 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Eligibility statement prior genetic testing
    • Literature
    Phenotypes
    • Idiopathic pulmonary arterial hypertension
    • IPAH
    • Heritable pulmonary arterial hypertension
    • HPAH
    • Pulmonary arterial hypertension
    • Pulmonary hypertension, primary, 2, 615342