ATAD3C

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 ATAD3C gene was identified in a male, who passed away at 19 months, with poor growth, a small head (severe progressive microcephaly), global developmental delay, vision and hearing impairment, autoimmune disease, and brain abnormalities (read full description).

Date of Report

Mar 16, 2022

Full Name

ATPase Family AAA Domain Containing 3C

Location

Chromosome 1 (1p36.33)

Function

The ATAD3C gene encodes for a protein whose function is currently not well understood (GeneCards).

Database Links

GeneCards: ATAD3C

NCBI Gene: 219293

OMIM: 617227

UniProtKB/Swiss-Prot: Q5T2N8

Clinical Significance

A partial de novo duplication in this gene was identified in a UDN participant. The duplication involves the ATAD3A, ATAD3B, and ATAD3C genes.

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
ATAD3C	Unknown	chr1:g.1404883_ 1451417dup	N/A	~47kb complex duplication involving ATAD3A/B/C	TBD

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!