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FKBP7

Synonyms
FKBP23, PPIase
External resources
Summary
The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium.

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
19
Likely pathogenic
0
VUS
1,376
Likely benign
70
Benign
0

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on FKBP7 gene are displayed below. The following symptoms were found in patients with a variant in FKBP7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.1%
Abnormality of head or neck
36.8%
Abnormality of the ear
36.8%
Abnormality of the eye
36.8%
Abnormality of the integument
21.1%
Abnormality of the musculoskeletal system
15.8%
Abnormality of blood and blood forming tissues
10.5%
Growth abnormality
10.5%
Abnormality of the cardiovascular system
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the respiratory system
5.3%
Abnormality of the voice
5.3%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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