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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Changes in the TLN2 gene were identified in a male, age 9, with seizures, developmental delay, and enlarged ears (macrotia) (read full description).

Date of Report

Mar 03, 2022

Full Name

Talin 2

Chromosome 15 (15q22.2)


The TLN2 gene encodes for increased production of phosphatidylinositol-4,5-bisphosphate through the interaction with PIP5k1C (Di Paolo et al., 2002).

Database Links

GeneCards: TLN2

NCBI Gene: 83660

OMIM: 607349

UniProtKB/Swiss-Prot: Q9Y4G6

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene TLN2
Inheritance Pattern Unknown
Position (hg19) chr15:g.63097986T>C & g.62995056G>A
Transcript NM_015059.2
DNA Change c.6663+2T>C & c.1997G>A
Protein Change N/A & p.Arg666Gln
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