Pneumothorax - familial

Gene: TSC2

Green List (high evidence)

TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 26 panels

4 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

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 germline
Created: 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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 given
Created: 6 Dec 2018, 2:37 p.m.

Olivia Niblock (Genomics England Curator)

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.

Stefan Marciniak (University of Cambridge)

Green List (high evidence)

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

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

7 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TSC2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Feb 2017, Gel status: 4

panel promoted to version 1

Olivia Niblock (Genomics England Curator)

09/02/17 - Panel revised according to expert review, literature searches and clinical review.

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Jan 2017, Gel status: 4

Set Mode of Inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for TSC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

TSC2 was added to Familial Pneumothoraxpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene TSC2 was set to Unknown

8 Sep 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

8 Sep 2016, Gel status: 0

Added New Source

Stefan Marciniak (University of Cambridge)

TSC2 was added to Familial Pneumothoraxpanel. Sources: Expert list

8 Sep 2016, Gel status: 0

Created

Stefan Marciniak (University of Cambridge)

TSC2 was created by [email protected]