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FZD8

Synonyms
FZ-8, hFZ8
External resources
Summary
This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined.

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
31
Likely pathogenic
1,261
VUS
3,293
Likely benign
43
Benign
0

Patient Phenotypes

Proportions of phenotypes among 652 patients carrying pathogenic or likely pathogenic variants on FZD8 gene are displayed below. The following symptoms were found in patients with a variant in FZD8. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.5%
Abnormality of the musculoskeletal system
26.4%
Abnormality of the cardiovascular system
22.9%
Abnormality of head or neck
21.5%
Abnormality of the eye
18.6%
Abnormality of the ear
17.5%
Growth abnormality
12.6%
Abnormality of the genitourinary system
10.4%
Abnormality of metabolism homeostasis
10%
Abnormality of the integument
8.4%
Abnormality of limbs
6.7%
Abnormality of the digestive system
6.1%
Abnormality of blood and blood forming tissues
4.1%
Abnormality of the immune system
4.1%
Abnormality of the respiratory system
3.1%
Abnormality of the endocrine system
2.9%
Neoplasm
2.3%
Abnormality of prenatal development or birth
2.1%
Constitutional symptom
0.9%
Abnormality of the breast
0.8%
Abnormality of the voice
0.3%
Abnormal cellular phenotype
0.2%
Abnormality of the thoracic cavity
0%

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