Familial pulmonary fibrosis
Gene: TSC1EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
4 reviews
Philip Molyneaux (Imperial College)
Cystic lung disease, not fibroticCreated: 26 Apr 2017, 9:43 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, 12:33 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, 4:06 p.m.
Alice Gardham (Genomics England)
Comment on list classification: interstitial lung disease seen in 1% of TS patientsCreated: 9 Feb 2017, 2:13 p.m.
Interstitial lung disease seen as well as lymphangioleiomyomatosis patients usually present with cystic lung diseaseCreated: 9 Feb 2017, 10:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis-1 191100
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Tuberous sclerosis-1 191100
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- DDG2P
- Familial pulmonary fibrosis
- Pigmentary skin disorders
- Malformations of cortical development
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Childhood solid tumours
- Cystic kidney disease
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Tuberous sclerosis
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
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).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for TSC1 were set to 20301399; 26104489; 15331184
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 TSC1 were set to Tuberous sclerosis-1 191100
Set publications
Alice Gardham (Genomics England)Publications for TSC1 were set to 20301399; 26104489
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for TSC1 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 Amber List (Moderate Evidence).
Created
Ellen McDonagh (Genomics England Curator)TSC1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory