Pneumothorax
Gene: TSC1
TSC1 (TSC complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 20 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax.
The reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause when looking at tuberous sclerosis.
There are many reported individuals with a diagnosis of LAM has been reported with pneumothorax.
This gene would be green when curated against LAM however red when curated against TSC as pneumothorax is a secondary feature.Created: 28 Nov 2024, 11:06 p.m. | Last Modified: 28 Nov 2024, 11:13 p.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
tuberous sclerosis 1 MONDO:0008612; lung lymphangioleiomyomatosis MONDO:0006277
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Tuberous sclerosis-1, OMIM:191100
- Lymphangioleiomyomatosis, OMIM:606690
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Additional findings_Adult
- Kidney Cancer
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Lymphoedema_syndromic
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Pneumothorax
- Facial papules
- Incidentalome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Renal Macrocystic Disease
- Mosaic skin disorders
- Cerebral Palsy
- Autism
History Filter Activity
27 Oct 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TSC1 was added gene: TSC1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSC1 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001 Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1, OMIM:191100; Lymphangioleiomyomatosis, OMIM:606690