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IL1RL2

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.

Compound heterozygous changes in the IL1RL2 gene were identified in a UDN participant with behavioral disorders, congenital heart defects, and a brain malformation.

Date of Report

Jun 05, 2023

Full Name

Interleukin 1 Receptor-Like 2

Location
Chromosome 2 (2q12.1)
Location Image

Function

The IL1RL2 gene encodes a receptor for interleukin-36 (Medina-Contreras et al., 2016).

Database Links

GeneCards: IL1RL2

NCBI Gene: 8808

OMIM: 604512

UniProtKB/Swiss-Prot: Q9HB29

Clinical Significance

Compound heterozygous changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene Inheritance Position (hg19) Transcript DNA Change Protein Change
IL1RL2 Unknown chr2:g.102805698A>G & g.102808560G>A NM_003854.4 c.221A>G & c.469G>A p.His74Arg & p.Gly157Ser
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