This Panel is marked as Internal
Tumour predisposition - adult onset
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Tuberous sclerosis type 2
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Skeletal dysplasia
- Familial pulmonary fibrosis
- DDG2P
- Fetal anomalies
- Malformations of cortical development
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Early onset or syndromic epilepsy
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Childhood solid tumours
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
History Filter Activity
31 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TSC2 was added gene: TSC2 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TSC2 were set to Tuberous sclerosis type 2