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

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Date of Report

Feb 01, 2018

Full Name

activity dependent neuroprotector homeobox

Chromosome 20 (20q13.13)


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

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