Familial pulmonary fibrosis
Gene: TSC1
Cystic lung disease, not fibroticCreated: 26 Apr 2017, 9:43 a.m.
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.
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.
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
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Publications for TSC1 were set to 20301399; 26104489; 15331184
This gene has been classified as Green List (High Evidence).
Phenotypes for TSC1 were set to Tuberous sclerosis-1 191100
Publications for TSC1 were set to 20301399; 26104489
Mode of inheritance for TSC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
TSC1 was created by ellenmcdonagh
TSC1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory