TSC2 - Gene browser

TSC2

TSC complex subunit 2

HCNC Approved Symbol: TSC2 (HGNC:12363)
Genomic Coordinates: 16:2,047,985 - 2,089,491 (16p13.3)
Synonyms: tuberin, LAM, PPP1R160, TSC4
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

68Patients

In total, 68 patients were diagnosed with a variant in the TSC2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

068
Patient count

Seizures: 28 (41.2%)
Patient Count: 28 (41.2%)
% of total patients presenting each phenotype is shown in parentheses.
28 (41.2%)
Cortical tubers: 11 (16.2%)
Patient Count: 11 (16.2%)
% of total patients presenting each phenotype is shown in parentheses.
11 (16.2%)
Epilepsy: 10 (14.7%)
Patient Count: 10 (14.7%)
% of total patients presenting each phenotype is shown in parentheses.
10 (14.7%)
Hypopigmented skin patches: 9 (13.2%)
Patient Count: 9 (13.2%)
% of total patients presenting each phenotype is shown in parentheses.
9 (13.2%)
Intellectual disability: 9 (13.2%)
Patient Count: 9 (13.2%)
% of total patients presenting each phenotype is shown in parentheses.
9 (13.2%)