Home > Gene Browser > PKD1L1

PKD1L1

Synonyms
HTX8, PRO19563
External resources
Summary
This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined.

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
77
Likely pathogenic
46
VUS
17,381
Likely benign
10,446
Benign
949

Patient phenotypes

Proportions of phenotypes among 104 patients carrying pathogenic or likely pathogenic variants on PKD1L1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.6%
Abnormality of the musculoskeletal system
26%
Abnormality of the eye
18.3%
Abnormality of the cardiovascular system
17.3%
Abnormality of head or neck
16.3%
Abnormality of the ear
15.4%
Growth abnormality
15.4%
Abnormality of limbs
11.5%
Abnormality of the integument
11.5%
Abnormality of the genitourinary system
7.7%
Abnormality of the digestive system
5.8%
Abnormality of the immune system
5.8%
Abnormality of the respiratory system
5.8%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of prenatal development or birth
2.9%
Abnormality of the endocrine system
2.9%
Constitutional symptom
1.9%
Neoplasm
1.9%
Abnormal cellular phenotype
1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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