This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
- Unknown
- Sources
-
- KidGen_Cystic v38.1.0
- Expert Review Green
- 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
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: TSC2 was added gene: TSC2 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0 Mode of inheritance for gene: TSC2 was set to Unknown