Familial pulmonary fibrosis
Gene: TSC2EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 panels
4 reviews
Philip Molyneaux (Imperial College)
Cystic lung disease, not fibroticCreated: 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)
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)
Comment on list classification: Interstitial lung disease seen in 1% of patients with TSCreated: 9 Feb 2017, 2:13 p.m.
Interstitial lung disease seen as well as lymphangioleiomyomatosis but patients usually present with cystic lung diseaseCreated: 9 Feb 2017, 10:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis-2 613254
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Tuberous sclerosis-2 613254
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Structural eye disease
- Pigmentary skin disorders
- Malformations of cortical development
- Childhood solid tumours
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
- Cystic kidney disease
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TSC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for TSC2 were set to Tuberous sclerosis-2 613254
Set publications
Alice Gardham (Genomics England)Publications for TSC2 were set to 15331184; 26104489
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Created
Ellen McDonagh (Genomics England Curator)TSC2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TSC2 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory