KMT2C

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.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the KMT2C gene was identified in a male, age 18 with global developmental delay, autism, severe nearsightedness (myopia), different facial features, and a history of heart defects (atrial septal defect, ventricular septal defect), and cleft palate (read full description).

Date of Report

Aug 18, 2021

Full Name

lysine methyltransferase 2C

Location
Chromosome 7 (7q36.1)
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Function

The KMT2C gene encodes for a histone methyltransferase that modifies chromatin structure and regulates gene transcription through mediation of mono- and tri-methylation of histone H3 at lysine 4 (Koemans et al., 2017).

Database Links

GeneCards: GC07M152134

NCBI Gene: 58508

OMIM: 606833

UniProtKB/Swiss-Prot: Q8NEZ4

Clinical Significance

A de novo change in this gene was identified in a UDN participant.

Gene KMT2C
Inheritance Pattern Autosomal Dominant
Position (hg19) chr7:g.151993317_ 152093215del
Transcript NM_170606.2
DNA Change 99.9kb deletion including exons 2-6
Protein Change N/A
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