Unexplained kidney failure in young people
Gene: TSC2EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 5 Aug 2016, 12:41 p.m.
Comment on phenotypes: Somatic variants also reported in Lymphangioleiomyomatosis, somatic 606690Created: 5 Aug 2016, 12:40 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Tuberous sclerosis-2 613254
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- Complete
- Publications
-
- Panels with this gene
-
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
- Skeletal dysplasia
- Intellectual disability
- Familial pulmonary fibrosis
- Early onset or syndromic epilepsy
- DDG2P
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Malformations of cortical development
- Structural eye disease
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Childhood solid tumours
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TSC2 were changed from Tuberous sclerosis-2 613254 to Tuberous sclerosis-2 613254
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TSC2 were set to Tuberous sclerosis-2 613254
Upload gene information
Sarah Leigh (Genomics England Curator)TSC2 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TSC2 were set to Tuberous sclerosis-2 613254
Added New Source
Sarah Leigh (Genomics England Curator)TSC2 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)TSC2 was created by sleigh