MED13L

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 heterozygous change in the MED13L gene was identified in a UDN participant with global developmental delay, eye and vision abnormalities, and gastrointestinal dysmotility.

Date of Report

Jun 10, 2025

Full Name

Mediator Complex Subunit 13L

Location

Chromosome 12 (12q24.21)

Function

This gene encodes for a protein is a subunit of the Mediator complex and plays a role in the early development of the heart and brain [provided by RefSeq, Jul 2010].

Database Links

GeneCards: MED13L

NCBI Gene: 23389

OMIM: 608771

UniProtKB/Swiss-Prot: Q71F56

Clinical Significance

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

Gene MED13L

Inheritance Pattern Autosomal Dominant

Position (hg19) chr12:g.116406783_ 116406785del

Transcript NM_015335.5

DNA Change c.6187_6189del

Protein Change p.Ser2063del

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