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
-
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Familial pulmonary fibrosis
- Structural eye disease
- Skeletal dysplasia
- Malformations of cortical development
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Childhood solid tumours
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Unexplained kidney failure in young people
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
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