MEGF10 Chromosome 5
Multiple EGF like domains 10
Upload your DNA to see your personal genotypes for variants in MEGF10.
What This Gene Does
This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
Scavenger receptors
Locus Type
gene with protein product
Location
5q23.2
Ensembl
ENSG00000145794
Associated Conditions (6)
MEGF10-related myopathy
MEGF10-related disorder
Inborn genetic diseases
Congenital myopathy 10b
mild variant
Uveal melanoma
Key Variants
RS113794264
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS114704569
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS115184652
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy
Health Risk
RS116500162
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related disorder, Inborn genetic diseases
Health Risk
RS1188804374
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS138034219
Conflicting classifications of pathogenicity
MEGF10-related myopathy, Inborn genetic diseases, MEGF10-related myopathy
Health Risk
RS138523651
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS139884665
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS139929890
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related disorder, MEGF10-related myopathy
Health Risk
RS140563851
Conflicting classifications of pathogenicity
MEGF10-related myopathy, Inborn genetic diseases, MEGF10-related myopathy
Health Risk
RS142947482
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
RS144450528
Conflicting classifications of pathogenicity
MEGF10-related myopathy, MEGF10-related myopathy
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2479702385 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2479708318 | Health Risk | Pathogenic | Congenital myopathy 10b, mild variant, Congenital myopathy 10b |
| RS2479772621 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS2479778910 | Health Risk | Pathogenic | Congenital myopathy 10b, mild variant, Congenital myopathy 10b |
| RS2479813429 | Health Risk | Pathogenic | Congenital myopathy 10b, mild variant, Congenital myopathy 10b |
| RS387907071 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS387907073 | Health Risk | Pathogenic | Congenital myopathy 10b, mild variant, MEGF10-related myopathy |
| RS794726677 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS794726678 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS794726679 | Health Risk | Pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS200174116 | Health Risk | Pathogenic/Likely pathogenic | MEGF10-related myopathy, MEGF10-related myopathy |
| RS387907072 | Health Risk | Pathogenic/Likely pathogenic | MEGF10-related myopathy, Congenital myopathy 10b, mild variant |