This Panel is marked as Internal
Renal and urinary tract disorders
Gene: TSC2
TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 5 Aug 2016, 12:41 p.m.
Comment on phenotypes: Somatic variants also reported in Lymphangioleiomyomatosis, somatic 606690Created: 5 Aug 2016, 12:40 p.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Important differential for renal cysts.Created: 10 May 2016, 12:54 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Tuberous sclerosis-2 613254
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- None
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Familial pulmonary fibrosis
- Structural eye disease
- Skeletal dysplasia
- Malformations of cortical development
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood solid tumours
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Unexplained kidney failure in young people
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Early onset or syndromic epilepsy
- Mosaic skin disorders - deep sequencing
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
History Filter Activity
30 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen Thomas: Comment on list classification
30 Jan 2019, Gel status: 4
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TSC2 were changed from Tuberous sclerosis-2 to Tuberous sclerosis-2 613254
20 Dec 2018, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Tuberous sclerosis-2 for gene: TSC2
20 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: TSC2 was added gene: TSC2 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown