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Unexplained kidney failure in young people

Gene: TSC2

Green List (high evidence)

TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 26 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 5 Aug 2016, 12:41 p.m.
Comment on phenotypes: Somatic variants also reported in Lymphangioleiomyomatosis, somatic 606690
Created: 5 Aug 2016, 12:40 p.m.

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TSC2 were changed from Tuberous sclerosis-2 613254 to Tuberous sclerosis-2 613254

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

5 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TSC2 were set to Tuberous sclerosis-2 613254

5 Aug 2016, Gel status: 4

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

23 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TSC2 were set to Tuberous sclerosis-2 613254

16 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

TSC2 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TSC2 was created by sleigh