Familial pulmonary fibrosis
Gene: SMAD9

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

2 reviews

Philip Molyneaux (Imperial College)

Red List (low evidence)

Associated with Heritable pulmonary arterial hypertension not Fibrosis

Created: 26 Apr 2017, 12:18 p.m.

Created: 26 Apr 2017, 12:18 p.m.

Panel version: 0.110

Alice Gardham (Genomics England)

Comment when marking as ready: Pulmonary hypertension rather than fibrosis -incorrect phenotype
Created: 8 Feb 2017, 7:14 p.m.

Created: 8 Feb 2017, 7:14 p.m.

Panel version: 0.43

Details

Sources

Expert Review Red
Emory Genetics Laboratory

Phenotypes

Pulmonary Disease

OMIM

603295

Clinvar variants

Variants in SMAD9

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

8 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMAD9 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory

29 Oct 2015, Gel status: 0

Created