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 DPH6 gene were identified in a female, age 10, with musculoskeletal anomalies, congenital heart disease, dysmorphic facial features, and global developmental delay (read full description).

Date of Report

Oct 29, 2021

Full Name

diphthamine biosynthesis 6

Chromosome 15 (15q14)


This gene encodes an enzyme that functions during the final steps of an amino acid synthesis pathway (Uthman et al., 2013).

Database Links

GeneCards: DPH6

NCBI Gene: 89978

OMIM: 618391

UniProtKB/Swiss-Prot: Q7L8W6

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 DPH6
Inheritance Pattern Unknown
Position (hg19) chr15:g.35747015_ 35747017del & g.35674089C>T
Transcript NM_080650.3
DNA Change c.323_325del & c.596G>A
Protein Change p.Glu108del & p.Cys199Tyr
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