On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the TSC2 gene was identified in a UDN participant with seizures, developmental regression, and abnormal muscle tone. 

Date of Report

Nov 13, 2023

Full Name

TSC complex sub complex subunit 2

Chromosome 16p13.3


The TSC2 gene codes for a tumor suppressor called tuberin that works in conjunction with hamartin (coded by the TSC1 gene) to form the TSC protein complex (Crino et al. 2006). This complex is involved in an important pathway that regulates anabolic cell growth (Crino et al. 2006).

The TSC2 gene is associated with Tuberous Sclerosis Complex (TSC), an autosomal dominant condition characterized by tumors (specifically hamartomas) in the brain, heart, skin, kidneys, and lungs (Northup et al. 2021). Those affected with TSC also present with seizures, learning and behavioral differences, and renal failure (Northup et al. 2021).

The TSC2 gene is also associated with Focal Cortical Dysplasia type II, a condition characterized by intractable epilepsy and brain malformation (OMIM).  While this condition has historically been associated with changes to a different gene, Lim et al. (2017) identified affected individuals with somatic changes in the TSC2 and TSC1 genes.

Database Links

GeneCards: TSC2

MedlinePlus Genetics: TSC2

NCBI Gene: 7249

OMIM: 191092

UniProtKB/Swiss-Prot: P49815

Clinical Significance

A homozygous change in this gene was identified in a UDN participant.

Gene TSC2
Inheritance Pattern Autosomal recessive
Position (hg19) chr16: g.2138728_2138735del
Transcript NM_001009944.2
DNA Change c.*993_*1000 delGTCAATAA
Protein Change N/A
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