On this page, you will find information about genetic changes that were identified in UDN participants. 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.

Date of Report

Jan 04, 2018

Full Name

Interferon regulatory factor 2 binding protein like

Chromosome 14 (14q24.3)


The IRF2BPL gene codes for a protein that is thought to play a role in female reproductive development (Heger et al., 2007).

Database Links

GeneCards: GC14M077024

NCBI Gene: 64207

OMIM: 611720

UniProtKB/Swiss-Prot: Q8K3X4

Clinical Significance

Changes in the IRF2BPL gene were identified in two UDN participants (Marcogliese et al, 2018): 

Participant 031, a 6 year old male with developmental regression, hypotonia, difficulty controlling voluntary movements (limb and truncal ataxia), and lack of coordination was found to carry the following genetic change in the IRF2BPL gene:  c.514G>T/p.Glu172Ter (position: chr14:77493622, transcript: NM_024496.3)

Participant 044, a 20 year old male with regression, paralysis (spastic tetraplegia), and brain damage (cerebellar atrophy) was found to carry the following genetic change in the IRF2BPL gene:  c.562C>T/p.R188X (position: chr14:77493574, transcript: NM_024496)

Inheritance Pattern Autosomal dominant
Position see gene page
Transcript see gene page
DNA Change see gene page
Protein Change see gene page
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