PRDM16

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 this gene was identified in a male, age 4, with heart defects and a history of failure to thrive (read full description).

Date of Report

Oct 10, 2025

Full Name

PR SET domain 16

Location

Chromosome 1 (1p36.32)

Function

The PRDM16 gene is involved in mitochondrial function, preventing oxidative stress, and inhibiting cardiac hypertrophy (Cibi et al. 2020).

Database Links

GeneCards: PRDM16

NCBI Gene: 63976

OMIM: 605557

UniProtKB/Swiss-Prot: Q9HAZ2

Clinical Significance

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

Gene PRDM16

Inheritance Pattern Autosomal dominant

Position (hg19) chr1:g.3342645:AC>A

Transcript NM_022114.4

DNA Change c.3142del

Protein Change p.L1048Wfs*18

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