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 the CDH2 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)

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: CDH2

NCBI Gene: 1000

OMIM: 114020

UniProtKB/Swiss-Prot: P19022

Clinical Significance

A de novo change in this gene was identified in a UDN participant and other patients with similar symptoms (Accogli et al, 2019).

Gene CDH2

Inheritance Pattern Unknown

Position (hg19) chr18:g.25565146T>C

Transcript NM_001792.3

DNA Change c.2027A>G

Protein Change p.Tyr676Cys

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