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ADNP

On this page, you will find information about a genetic change that was identified in a UDN participant.

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

Date of Report

Feb 01, 2018

Full Name

activity dependent neuroprotector homeobox

Location
Chromosome 20 (20q13.13)
Chr20_49510708.png

Function

The gene ADNP codes for a protein responsible for regulating genes involved in brain development (Gozes, 2007; Mandel et al., 2007).

Database Links

GeneCards: GC20M050888

Genetics Home Reference: ADNP

NCBI Gene: 23394

OMIM: 611386

UniProtKB/Swiss-Prot: Q9H2P0

Clinical Significance

A change in the ADNP gene was identified in a UDN participant. The participant, a 4-year-old male with Helsmoortel-van der Aa syndrome was found to carry the following genetic change in the ADNP gene: c.539_542delTTAG / p.V180fs.

Gene ADNP
Inheritance Pattern Autosomal dominant
Position Chr20:49510708
Transcript NM_015339
DNA Change c.539_542delTTAG
Protein Change p.V180fs
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