Familial pulmonary fibrosis

Gene: TSC2

Red List (low evidence)

TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 26 panels

4 reviews

Philip Molyneaux (Imperial College)

Red List (low evidence)

Cystic lung disease, not fibrotic
Created: 26 Apr 2017, 9:44 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Also reviewed by Gisli Jenkins, University of Nottingham: "definitely should NOT be on the list (these are associated with the cystic lung disease associated with LAM and Tuberous Sclerosis)." Demoted to red due to two expert reviews.
Created: 23 Mar 2017, 12:34 p.m.

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Review from Toby Maher. The criteria for familial pulmonary fibrosis specifically excludes cystic lung diseases. A number of the genes on the list very specifically relate to cystic lung disease rather than pulmonary fibrosis (e.g. TSC1, TSC2 and NF1) and I wonder whether they should be included in this panel.
Created: 20 Mar 2017, 4:07 p.m.

Alice Gardham (Genomics England)

I don't know

Comment on list classification: Interstitial lung disease seen in 1% of patients with TS
Created: 9 Feb 2017, 2:13 p.m.
Interstitial lung disease seen as well as lymphangioleiomyomatosis but patients usually present with cystic lung disease
Created: 9 Feb 2017, 10:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tuberous sclerosis-2 613254

Publications

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

23 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 Mar 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TSC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Feb 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for TSC2 were set to Tuberous sclerosis-2 613254

9 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for TSC2 were set to 15331184; 26104489

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TSC2 was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TSC2 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory