This Panel is marked as Deleted
Epileptic encephalopathy Victorian Clinical Genetics Services
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
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- None
- Panels with this gene
-
- Familial pulmonary fibrosis
- DDG2P
- Intellectual disability
- Structural eye disease
- Malformations of cortical development
- Mosaic skin disorders - deep sequencing
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Multiple monogenic benign skin tumours
- Fetal anomalies
- Unexplained kidney failure in young people
- Rare multisystem ciliopathy disorders
- Pigmentary skin disorders
- Early onset or syndromic epilepsy
- Cystic kidney disease
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Skeletal dysplasia
- Pneumothorax - familial
- Tuberous sclerosis
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)TSC2 was added to Epileptic encephalopathy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)TSC2 was created by Sarah Leigh