Pneumothorax - familial
Gene: TSC1EnsemblGeneIds (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)
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)
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.
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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Lymphangioleiomyomatosis, OMIM:606690
- Tuberous sclerosis-1, OMIM:191100
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- DDG2P
- Familial pulmonary fibrosis
- Pigmentary skin disorders
- Malformations of cortical development
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Childhood solid tumours
- Cystic kidney disease
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Tuberous sclerosis
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
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
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
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)
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/02/17 - Panel revised according to expert review, literature searches and clinical review.
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for TSC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
Stefan Marciniak (University of Cambridge)TSC1 was created by [email protected]
Added New Source
Stefan Marciniak (University of Cambridge)TSC1 was added to Familial Pneumothoraxpanel. Sources: Expert list