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GBP5

Synonyms
GBP-5
External resources
Summary
This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing results in multiple transcript variants.

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
36
Likely pathogenic
42
VUS
2,897
Likely benign
83
Benign
0

Patient Phenotypes

Proportions of phenotypes among 78 patients carrying pathogenic or likely pathogenic variants on GBP5 gene are displayed below. The following symptoms were found in patients with a variant in GBP5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.2%
Abnormality of the musculoskeletal system
38.5%
Abnormality of the eye
29.5%
Abnormality of head or neck
25.6%
Abnormality of metabolism homeostasis
16.7%
Abnormality of the integument
16.7%
Growth abnormality
14.1%
Abnormality of blood and blood forming tissues
12.8%
Abnormality of limbs
12.8%
Abnormality of the cardiovascular system
12.8%
Abnormality of the digestive system
11.5%
Abnormality of the ear
11.5%
Abnormality of the genitourinary system
9%
Abnormality of the immune system
9%
Constitutional symptom
7.7%
Abnormal cellular phenotype
6.4%
Abnormality of the respiratory system
6.4%
Neoplasm
3.8%
Abnormality of prenatal development or birth
2.6%
Abnormality of the breast
1.3%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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