DPH7

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 female, age 5 with seizures (tonic seizures and spasms) that are resistant to treatment (refractory), global developmental delay, autism, and intermittent problems with coordination (gait ataxia) (read full description).

Date of Report

Nov 10, 2020

Full Name

diphthamide biosynthesis 7

Location
Chromosome 9 (9q34.3)
DPH7-gene.png

Function

The DPH7 gene codes for a protein that contains a WD-40 domain and is thought to play a role in diphthamide biosynthesis (Carette et al., 2009).

Database Links

GeneCards: GC09M137554

NCBI Gene: 92715

OMIM: 613210

UniProtKB/Swiss-Prot: Q9BTV6

Clinical Significance

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

Gene DPH7
Inheritance Pattern De novo germline
Position Chr9: 137565151
Transcript NM_138778.4
DNA Change c.644G>A
Protein Change p.G215D
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