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FAM20C

Synonyms
DMP-4, DMP4, G-CK, GEF-CK, RNS
External resources
Summary
This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome.

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
14
Likely pathogenic
2,343
VUS
15,091
Likely benign
3,633
Benign
98

Patient phenotypes

Proportions of phenotypes among 2354 patients carrying pathogenic or likely pathogenic variants on FAM20C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.8%
Abnormality of the musculoskeletal system
26.1%
Abnormality of head or neck
22.2%
Abnormality of the cardiovascular system
21%
Abnormality of the eye
20.1%
Abnormality of the ear
12.9%
Growth abnormality
12.1%
Abnormality of limbs
10.8%
Abnormality of the integument
10.8%
Abnormality of the genitourinary system
10.8%
Abnormality of the digestive system
8%
Abnormality of the immune system
5.7%
Abnormality of the endocrine system
4.8%
Abnormality of blood and blood-forming tissues
4.4%
Abnormality of the respiratory system
4%
Neoplasm
2.9%
Abnormality of prenatal development or birth
2.5%
Constitutional symptom
0.9%
Abnormality of the breast
0.6%
Abnormal cellular phenotype
0.5%
Abnormality of the voice
0.5%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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