Classical tuberous sclerosis
Gene: TSC1EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
2 reviews
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
191100
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Confirmed DD gene for Tuberous Sclerosis Type 1, and a green review.Created: 6 May 2016, 9:54 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
-
- Focal cortical dysplasia, Taylor balloon cell type, 607341Lymphangioleiomyomatosis, 606690Tuberous sclerosis-1, 191100
- Tuberous Sclerosis
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Publications
-
- PMID: 17304050
- Panels with this gene
-
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- DDG2P
- Familial pulmonary fibrosis
- 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
- Mosaic skin disorders - deep sequencing
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Tuberous sclerosis
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
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 TSC1 were set to Focal cortical dysplasia, Taylor balloon cell type, 607341Lymphangioleiomyomatosis, 606690Tuberous sclerosis-1, 191100; Tuberous Sclerosis
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TSC1 were set to PMID: 17304050
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TSC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Classical tuberous sclerosispanel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()TSC1 was added to Classical tuberous sclerosispanel. Sources: Eligibility Statements for GeL
Added New Source
GEL ()TSC1 was added to Classical tuberous sclerosispanel. Sources: UKGTN
Added New Source
GEL ()TSC1 was added to Classical tuberous sclerosispanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()TSC1 was added to Classical tuberous sclerosispanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()TSC1 was added to Classical tuberous sclerosispanel. Sources: Radboud University Medical Center, Nijmegen