Familial pulmonary fibrosis
Gene: STAT3

STAT3 (signal transducer and activator of transcription 3)
EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels

2 reviews

Philip Molyneaux (Imperial College)

Red List (low evidence)

Role in regulating fibroblast function suggested in IPF in literature, but should not be in panel

Created: 26 Apr 2017, 12:19 p.m.

Created: 26 Apr 2017, 12:19 p.m.

Panel version: 0.110

Alice Gardham (Genomics England)

Comment when marking as ready: Recurrent chest infections rather than fibrosis -incorrect phenotype
Created: 9 Feb 2017, 10:49 a.m.

Created: 9 Feb 2017, 10:49 a.m.

Panel version: 0.69

Details

Sources

Expert Review Red
Emory Genetics Laboratory

Phenotypes

Pulmonary Disease

OMIM

102582

Clinvar variants

Variants in STAT3

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

9 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)

STAT3 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory

29 Oct 2015, Gel status: 0

Created