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  2. Extreme early-onset hypertension
  3. SMAD9
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Extreme early-onset hypertension

Gene: SMAD9

Red List (low evidence)
SMAD9 (SMAD family member 9)
EnsemblGeneIds (GRCh38): ENSG00000120693
EnsemblGeneIds (GRCh37): ENSG00000120693
OMIM: 603295, Gene2Phenotype
SMAD9 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Variants reported in Pulmonary hypertension, primary, 2615342
Created: 3 Aug 2016, 8:49 a.m.
Created: 3 Aug 2016, 8:49 a.m.

Panel version: 0.106

Fiona Karet (Universit y of Cambridge)

Red List (low evidence)

Phenotypes
Pulmonary HT

Created: 20 Jun 2016, 6:47 a.m.

Panel version: 0.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pulmonary hypertension, primary, 2 615342
OMIM
603295
Clinvar variants
Variants in SMAD9
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

3 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SMAD9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SMAD9 were set to Pulmonary hypertension, primary, 2 615342

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SMAD9 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen