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FAM20A

Synonyms
AI1G, AIGFS, FP2747
External resources
Summary
This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified.

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
103
Likely pathogenic
1
VUS
4,206
Likely benign
1,885
Benign
35

Patient phenotypes

Proportions of phenotypes among 104 patients carrying pathogenic or likely pathogenic variants on FAM20A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.2%
Abnormality of the musculoskeletal system
37.5%
Abnormality of head or neck
28.8%
Growth abnormality
18.3%
Abnormality of the cardiovascular system
16.3%
Abnormality of the eye
13.5%
Abnormality of the ear
11.5%
Abnormality of the genitourinary system
8.7%
Abnormality of the integument
8.7%
Abnormality of limbs
7.7%
Abnormality of the digestive system
6.7%
Abnormality of the respiratory system
6.7%
Abnormality of blood and blood-forming tissues
3.8%
Abnormality of the endocrine system
3.8%
Abnormality of the immune system
3.8%
Neoplasm
3.8%
Abnormality of prenatal development or birth
1.9%
Abnormality of the voice
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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