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CELSR1

Synonyms
ADGRC1, CDHF9, FMI2, HFMI2, ME2
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
8
Likely pathogenic
0
VUS
4,357
Likely benign
5,198
Benign
4,930

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on CELSR1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
37.5%
Abnormality of the nervous system
37.5%
Abnormality of blood and blood-forming tissues
25%
Abnormality of the ear
25%
Abnormality of the integument
25%
Growth abnormality
25%
Abnormality of limbs
12.5%
Abnormality of the immune system
12.5%
Abnormality of the respiratory system
12.5%
Constitutional symptom
12.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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