Home > Gene Browser > CEACAM16

CEACAM16

Synonyms
CEAL2, DFNA4B, DFNB113
External resources
Summary
The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss.

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
26
Likely pathogenic
0
VUS
5,747
Likely benign
70
Benign
739

Patient phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on CEACAM16 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
53.8%
Abnormality of the nervous system
26.9%
Abnormality of the ear
19.2%
Abnormality of the musculoskeletal system
11.5%
Abnormality of limbs
7.7%
Abnormality of the integument
7.7%
Growth abnormality
7.7%
Neoplasm
7.7%
Abnormality of head or neck
3.8%
Abnormality of the endocrine system
3.8%
Constitutional symptom
3.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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