DSCAM Chromosome 21
DS cell adhesion molecule
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What This Gene Does
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]
Gene Info
Gene Group
"Fibronectin type III domain containing|V-set domain containing|I-set domain containing|Ig-like cell adhesion molecule family|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
21q22.2
Ensembl
ENSG00000171587
Associated Conditions (5)
DSCAM-related disorder
Autism
Aganglionic megacolon
See cases
Inborn genetic diseases
Key Variants
RS745374335
Conflicting classifications of pathogenicity
DSCAM-related disorder, Autism, DSCAM-related disorder
Health Risk
RS1419539530
Likely pathogenic
Aganglionic megacolon, Aganglionic megacolon
Health Risk
RS2146568828
Likely pathogenic
See cases, See cases
Health Risk
RS2516873033
Likely pathogenic
DSCAM-related disorder, DSCAM-related disorder
Health Risk
RS1369501286
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1375541923
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS745374335 | Health Risk | Conflicting classifications of pathogenicity | DSCAM-related disorder, Autism, DSCAM-related disorder |
| RS1419539530 | Health Risk | Likely pathogenic | Aganglionic megacolon, Aganglionic megacolon |
| RS2146568828 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2516873033 | Health Risk | Likely pathogenic | DSCAM-related disorder, DSCAM-related disorder |
| RS1369501286 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1375541923 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |