Home > Gene Browser > PKD1L1
PKD1L1
- Synonyms
- HTX8, PRO19563
- External resources
- NCBI168507
- OMIM609721
- EnsemblENSG00000158683
- HGNCHGNC:18053
- 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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