TSC1 - Gene browser

TSC1

TSC complex subunit 1

HCNC Approved Symbol: TSC1 (HGNC:12362)
Genomic Coordinates: 9:132,891,349 - 132,945,378 (9q34.13)
Synonyms: KIAA0243, LAM, hamartin, TSC
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the TSC1 gene.

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

015
Patient count

Seizures: 7 (46.7%)
Patient Count: 7 (46.7%)
% of total patients presenting each phenotype is shown in parentheses.
7 (46.7%)
Cortical tubers: 4 (26.7%)
Patient Count: 4 (26.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (26.7%)
Epilepsy: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Shagreen patch: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Intellectual disability: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)