Home > Gene Browser > FAM20C
FAM20C
- Synonyms
- DMP-4, DMP4, G-CK, GEF-CK, RNS
- External resources
- NCBI56975
- OMIM611061
- EnsemblENSG00000177706
- HGNCHGNC:22140
- 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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