Unexplained paediatric onset end-stage renal diseaseGene: TSC2
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.
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.
Comment on list classification: Important differential for renal cysts.
Created: 10 May 2016, 12:54 p.m.
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