CELSR1 Chromosome 22

Cadherin EGF LAG seven-pass G-type receptor 1
23 variants 23 Health Risk

Upload your DNA to see your personal genotypes for variants in CELSR1.

What This Gene Does
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Adhesion G protein-coupled receptors, subfamily C|CELSR cadherins"
Locus Type
gene with protein product
Location
22q13.31
Ensembl
ENSG00000075275
Associated Conditions (9)
CELSR1-associated congenital heartdefects
CELSR1-related disorder
Mild to moderate NDD
Walker-Warburg congenital muscular dystrophy
Severe NDD
Lymphatic malformation
Lymphatic malformation 9
Neural tube defects
susceptibility to
Key Variants
All Variants (23)
RSID Category Clinical Significance Conditions
RS1017161806 Health Risk Conflicting classifications of pathogenicity CELSR1-associated congenital heartdefects, CELSR1-associated congenital heartdefects
RS142438731 Health Risk Conflicting classifications of pathogenicity CELSR1-related disorder, CELSR1-related disorder
RS148451995 Health Risk Conflicting classifications of pathogenicity
RS199661483 Health Risk Conflicting classifications of pathogenicity
RS200072284 Health Risk Conflicting classifications of pathogenicity
RS200795497 Health Risk Conflicting classifications of pathogenicity
RS2147447737 Health Risk Conflicting classifications of pathogenicity Mild to moderate NDD, Mild to moderate NDD
RS374242625 Health Risk Conflicting classifications of pathogenicity
RS746784282 Health Risk Conflicting classifications of pathogenicity Mild to moderate NDD, Mild to moderate NDD
RS748635750 Health Risk Conflicting classifications of pathogenicity
RS779099521 Health Risk Conflicting classifications of pathogenicity
RS931374138 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Severe NDD, Walker-Warburg congenital muscular dystrophy
RS969947703 Health Risk Conflicting classifications of pathogenicity
RS1569133268 Health Risk Likely pathogenic Lymphatic malformation, Lymphatic malformation
RS1569226110 Health Risk Likely pathogenic Lymphatic malformation, Lymphatic malformation
RS1569227576 Health Risk Likely pathogenic Lymphatic malformation 9, Lymphatic malformation, Lymphatic malformation 9
RS754833774 Health Risk Likely pathogenic Lymphatic malformation 9, Lymphatic malformation 9
RS1569124017 Health Risk Pathogenic Lymphatic malformation 9, Lymphatic malformation, Lymphatic malformation 9
RS1569141899 Health Risk Pathogenic Lymphatic malformation 9, Lymphatic malformation, Lymphatic malformation 9
RS2147265140 Health Risk Pathogenic Lymphatic malformation 9, Lymphatic malformation 9
RS2147324428 Health Risk Pathogenic Lymphatic malformation 9, Lymphatic malformation 9
RS786201015 Health Risk risk factor Neural tube defects, susceptibility to, Neural tube defects
RS786201016 Health Risk risk factor Neural tube defects, susceptibility to, Neural tube defects
Sign Up to Analyze Your DNA Log In