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Unexplained paediatric onset end-stage renal disease

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

4 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:17 a.m.

Miranda Durkie (Genetics)

Green List (high evidence)

Phenotypes
Tuberous sclerosis

Publications

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.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Important differential for renal cysts.
Created: 10 May 2016, 12:54 p.m.

History Filter Activity

9 Apr 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TSC2 was added gene: TSC2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2 613254