Pneumothorax - familial
Gene: TSC1
On Royal Brompton CGGL panel. Pneumothorax a feature of TSC-related LAM.Created: 7 Nov 2019, 9:23 a.m. | Last Modified: 7 Nov 2019, 9:23 a.m.
Panel Version: 2.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
OMIM 606690 Lymphangioleiomyomatosis (LAM); 191100 Tuberous sclerosis-1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on phenotypes: added phenotype suggested by expert reviewerCreated: 7 Nov 2019, 3:37 p.m. | Last Modified: 7 Nov 2019, 3:37 p.m.
Panel Version: 2.3
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Agreed Green rating- agreed appropriate for panel due to pneumothorax due to lymphangioleiomyomatosisCreated: 21 Jan 2019, 10:42 a.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: TSC1; Suggested initial gene rating: Green; Evidence for inclusion: Lymphangiomyomatosis; non-syndromic TSC-related pulmonary disease.; Evidence for exclusion: ? Mostly somatic mutations - germline tend to have TSC. Appropriate?; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 6 Dec 2018, 2:37 p.m.
Comment on list classification: After literature review, multiple cases highlighted with TSC mutations, almost exclusively in women and usually in childbearing age. TSC related Lymphangioleiomyomatosis linked with recurrent pneumothoraces.Created: 26 Jan 2017, 2:17 p.m.
Mutated in tuberous sclerosis, which can be associated with lymphangioleiomyomatosis (LAM)Created: 8 Sep 2016, 3:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC)
Publications
Phenotypes for gene: TSC1 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 1, 191100 to Lymphangioleiomyomatosis, OMIM:606690; Tuberous sclerosis-1, OMIM:191100
Phenotypes for gene: TSC1 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis to Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 1, 191100
Source NHS GMS was added to TSC1. Rating Changed from Green List (high evidence) to Green List (high evidence)
09/02/17 - Panel revised according to expert review, literature searches and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TSC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TSC1 was added to Familial Pneumothoraxpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene TSC1 was set to Unknown
This proposed gene was validated and added to this panel
TSC1 was created by [email protected]
TSC1 was added to Familial Pneumothoraxpanel. Sources: Expert list