Kidney Cancer

Gene: TSC2

Green List (high evidence)

TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 20 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 6:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal carcinoma, MONDO:0005206; Tuberous sclerosis 2, MONDO:0013199; Tuberous sclerosis-2, MIM#613254

History Filter Activity

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsc2 has been classified as Green List (High Evidence).

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tsc2 has been classified as Green List (High Evidence).

12 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: TSC2 was added gene: TSC2 was added to Kidney Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC2 were set to Renal carcinoma, MONDO:0005206; Tuberous sclerosis 2, MONDO:0013199; Tuberous sclerosis-2, MIM#613254 Review for gene: TSC2 was set to GREEN