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DSCAM DS cell adhesion molecule

Gene ID: 1826, updated on 12-Aug-2018
Also known as: CHD2; CHD2-42; CHD2-52

Summary

This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-01-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2018-01-24)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
21q22.2
Sequence:
Chromosome: 21; NC_000021.9 (40010999..40847139, complement)
Total number of exons:
33

Links

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