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FUZ

Synonyms
CPLANE3, FY, NTD
External resources
Summary
This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene.

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
11
Likely pathogenic
0
VUS
1,782
Likely benign
6,094
Benign
121

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on FUZ gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
54.5%
Abnormality of the musculoskeletal system
45.5%
Abnormality of the cardiovascular system
36.4%
Abnormality of the eye
36.4%
Abnormality of the integument
36.4%
Neoplasm
36.4%
Abnormality of head or neck
27.3%
Abnormality of the digestive system
27.3%
Abnormality of the ear
27.3%
Abnormality of limbs
18.2%
Abnormality of the genitourinary system
18.2%
Growth abnormality
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the immune system
9.1%
Abnormality of the respiratory system
9.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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