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ADNP

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 male, age 4 with Helsmoortel-van der Aa syndrome (read full description). 

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

MedlinePlus Genetics: ADNP

NCBI Gene: 23394

OMIM: 611386

UniProtKB/Swiss-Prot: Q9H2P0

Clinical Significance

A change in the ADNP gene was identified in a UDN participant. 

Gene ADNP
Inheritance Pattern Autosomal dominant
Position (hg19) chr20:g.49510712_ 49510715del
Transcript NM_015339.2
DNA Change c.539_542delTTAG
Protein Change p.Val180GlyfsTer17
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