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CEACAM7

Synonyms
CGM2
External resources
Summary
This gene encodes a cell surface glycoprotein and member of the carcinoembryonic antigen (CEA) family of proteins. Expression of this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants.

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
24
Likely pathogenic
0
VUS
1,211
Likely benign
16
Benign
0

Patient Phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on CEACAM7 gene are displayed below. The following symptoms were found in patients with a variant in CEACAM7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the integument
29.2%
Abnormality of head or neck
20.8%
Abnormality of the cardiovascular system
16.7%
Abnormality of the eye
16.7%
Growth abnormality
16.7%
Abnormality of limbs
12.5%
Abnormality of the digestive system
12.5%
Constitutional symptom
12.5%
Abnormality of blood and blood forming tissues
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
8.3%
Abnormality of metabolism homeostasis
4.2%
Abnormality of the respiratory system
4.2%
Neoplasm
4.2%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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