Pneumothorax

Gene: TSC2

Green List (high evidence)

TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 20 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Similar to TSC1, recurrent pneumothorax is a feature of LAM however is not a primary feature of tuberous sclerosis.
Created: 28 Nov 2024, 11:29 p.m. | Last Modified: 28 Nov 2024, 11:29 p.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
lymphangioleiomyomatosis MONDO:0011705; tuberous sclerosis 2 MONDO:0013199

Publications

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: TSC2 was added gene: TSC2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSC2 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001 Phenotypes for gene: TSC2 were set to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254