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ERFE

Synonyms
C1QTNF15, CTRP15, FAM132B
External resources

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
29
Likely pathogenic
0
VUS
2,941
Likely benign
1,078
Benign
0

Patient phenotypes

Proportions of phenotypes among 25 patients carring pathogenic or likely pathogenic variants on ERFE gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48%
Growth abnormality
28%
Abnormality of the musculoskeletal system
24%
Abnormality of head or neck
20%
Abnormality of the eye
20%
Abnormality of limbs
12%
Abnormality of the cardiovascular system
8%
Abnormality of the ear
8%
Abnormality of the genitourinary system
8%
Abnormality of the immune system
8%
Abnormality of blood and blood-forming tissues
4%
Abnormality of prenatal development or birth
4%
Abnormality of the integument
4%
Abnormality of the respiratory system
4%
Constitutional symptom
4%
Neoplasm
4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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