Pneumothorax - familial
Gene: TSC2
On Royal Brompton CGGL panel. Pneumothorax a feature of TSC-related LAM (although TSC2 seems to be associated with LAM due to somatic mutations rather than germlineCreated: 7 Nov 2019, 11:46 a.m. | Last Modified: 7 Nov 2019, 11:46 a.m.
Panel Version: 2.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
OMIM 613254 Tuberous sclerosis-2
Variants in this GENE are reported as part of current diagnostic practice
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Agreed Green rating- agreed appropriate for panel due to pneumothorax due to lymphangioleiomyomatosis.Created: 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: TSC2; 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 found with TSC1 and TSC2 mutations linked to LAM, almost all women of childbearing age. Pneumothorax is listed as one of the characteristic symptoms of LAM.Created: 26 Jan 2017, 2:35 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: TSC2 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 2, 613254 to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254
Phenotypes for gene: TSC2 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis to Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 2, 613254
Source NHS GMS was added to TSC2. 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).
Mode of inheritance for TSC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
TSC2 was added to Familial Pneumothoraxpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene TSC2 was set to Unknown
This proposed gene was validated and added to this panel
TSC2 was added to Familial Pneumothoraxpanel. Sources: Expert list
TSC2 was created by [email protected]