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CLEC10A

Synonyms
CD301, CLECSF13, CLECSF14, HML, HML2, MGL
External resources
Summary
This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell surface antigen. Two transcript variants encoding distinct isoforms have been identified for this gene.

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
19
Likely pathogenic
3
VUS
2,287
Likely benign
288
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on CLEC10A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
72.7%
Abnormality of the musculoskeletal system
59.1%
Abnormality of head or neck
54.5%
Abnormality of the eye
31.8%
Growth abnormality
31.8%
Abnormality of the cardiovascular system
22.7%
Abnormality of limbs
18.2%
Abnormality of the ear
18.2%
Abnormality of the digestive system
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the integument
9.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the immune system
4.5%
Abnormality of the respiratory system
4.5%
Constitutional symptom
4.5%
Neoplasm
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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