CDH2

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 25 with absent shoulder muscles, developmental delay, joint hypermobility, and skeletal abnormalities (read full description).

Date of Report

Aug 13, 2020

Full Name

cadherin 2

Location
Chromosome 18 (18q12.1)
CDH2-gene.png

Function

Cadherins play a role in binding between cells. CDH2 regulates signaling pathways and is important for nervous system development and left-right symmetry (Alimperti & Andreadis, 2014).

Database Links

GeneCards: GC18M027950

NCBI Gene: 1000

OMIM: 114020

UniProtKB/Swiss-Prot: P19022

Clinical Significance

A change in this gene was identified in a UDN participant and other patients with similar symptoms (Accogli et al, 2019). Contact us if you or someone you know has a variant in this gene!

Gene CDH2
Inheritance Pattern Unknown
Position chr18:25565146
Transcript NM_001792.3
DNA Change c.2027A>G
Protein Change p.Tyr676Cys
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!

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