Classical tuberous sclerosis
Gene: TSC2EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 panels
2 reviews
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
613254
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Confirmed DD gene for Tuberous Sclerosis Type 2, and has a green review.Created: 6 May 2016, 9:55 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Tuberous sclerosis-2, 613254
- Tuberous Sclerosis
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- Complete
- Publications
-
- PMID: 17304050
- Panels with this gene
-
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Pigmentary skin disorders
- Malformations of cortical development
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Childhood solid tumours
- Cystic kidney disease
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Ehlers Danlos syndrome with a likely monogenic cause
- Tuberous sclerosis
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TSC2 were set to Tuberous sclerosis-2, 613254; Tuberous Sclerosis
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TSC2 were set to PMID: 17304050
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TSC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TSC2 was added to Classical tuberous sclerosispanel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()TSC2 was added to Classical tuberous sclerosispanel. Sources: Eligibility Statements for GeL
Added New Source
GEL ()TSC2 was added to Classical tuberous sclerosispanel. Sources: UKGTN
Added New Source
GEL ()TSC2 was added to Classical tuberous sclerosispanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()TSC2 was added to Classical tuberous sclerosispanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()TSC2 was added to Classical tuberous sclerosispanel. Sources: Radboud University Medical Center, Nijmegen