Thoracic dystrophies
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
2 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Hannah Mitchison (UCL and GOSH)
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- Complete
- Panels with this gene
-
- Pigmentary skin disorders
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Familial pulmonary fibrosis
- Cystic kidney disease
- Mosaic skin disorders - deep sequencing
- Ehlers Danlos syndrome with a likely monogenic cause
- Intellectual disability
- Childhood solid tumours
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Unexplained kidney failure in young people
- DDG2P
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Tuberous sclerosis
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Malformations of cortical development
- Structural eye disease
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
- Fetal anomalies
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)TSC2 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory