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CPLANE1

Synonyms
C5orf42, Hug, JBTS17, OFD6
External resources
Summary
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS).

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
55
Likely pathogenic
2
VUS
12,825
Likely benign
3,548
Benign
2,913

Patient phenotypes

Proportions of phenotypes among 55 patients carrying pathogenic or likely pathogenic variants on CPLANE1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the cardiovascular system
34.5%
Abnormality of the musculoskeletal system
23.6%
Abnormality of head or neck
14.5%
Abnormality of the eye
14.5%
Abnormality of limbs
12.7%
Abnormality of the genitourinary system
12.7%
Abnormality of the ear
10.9%
Abnormality of the integument
10.9%
Abnormality of the endocrine system
9.1%
Abnormality of the digestive system
7.3%
Growth abnormality
7.3%
Abnormality of blood and blood-forming tissues
5.5%
Abnormality of the immune system
5.5%
Abnormality of prenatal development or birth
3.6%
Abnormality of the respiratory system
3.6%
Constitutional symptom
1.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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