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CELSR1

Synonyms
ADGRC1, CDHF9, FMI2, HFMI2, LMPHM9, 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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
18
Likely pathogenic
1
VUS
6,391
Likely benign
5,762
Benign
18,969

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on CELSR1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
40%
Abnormality of the musculoskeletal system
40%
Abnormality of the nervous system
40%
Abnormality of head or neck
26.7%
Abnormality of the ear
20%
Growth abnormality
20%
Abnormality of blood and blood-forming tissues
13.3%
Abnormality of the cardiovascular system
13.3%
Abnormality of the immune system
13.3%
Abnormality of the integument
13.3%
Abnormality of limbs
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the respiratory system
6.7%
Constitutional symptom
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive 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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