Pneumothorax - familial

Gene: TSC1

Green List (high evidence)

TSC1 (TSC complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 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.
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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: added phenotype suggested by expert reviewer
Created: 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 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: 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 given
Created: 6 Dec 2018, 2:37 p.m.

Olivia Niblock (Genomics England Curator)

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.

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: TSC1 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 1, 191100 to Lymphangioleiomyomatosis, OMIM:606690; Tuberous sclerosis-1, OMIM:191100

7 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TSC1. 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

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: 1

Set Mode of Inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for TSC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

19 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

TSC1 was added to Familial Pneumothoraxpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene TSC1 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

Created

Stefan Marciniak (University of Cambridge)

TSC1 was created by [email protected]

8 Sep 2016, Gel status: 0

Added New Source

Stefan Marciniak (University of Cambridge)

TSC1 was added to Familial Pneumothoraxpanel. Sources: Expert list