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PKD2L1

Synonyms
PCL, PKD2L, PKDL, TRPP3
External resources
Summary
This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene.

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
74
Likely pathogenic
0
VUS
10,602
Likely benign
816
Benign
0

Patient Phenotypes

Proportions of phenotypes among 71 patients carrying pathogenic or likely pathogenic variants on PKD2L1 gene are displayed below. The following symptoms were found in patients with a variant in PKD2L1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31%
Abnormality of head or neck
21.1%
Abnormality of the musculoskeletal system
21.1%
Abnormality of the cardiovascular system
16.9%
Abnormality of the eye
15.5%
Growth abnormality
14.1%
Abnormality of the genitourinary system
12.7%
Abnormality of metabolism homeostasis
11.3%
Abnormality of the digestive system
9.9%
Abnormality of the integument
9.9%
Abnormality of the endocrine system
8.5%
Abnormality of the immune system
8.5%
Abnormality of blood and blood forming tissues
7%
Abnormality of the ear
7%
Abnormality of limbs
5.6%
Abnormality of the respiratory system
4.2%
Abnormality of prenatal development or birth
2.8%
Abnormal cellular phenotype
1.4%
Constitutional symptom
1.4%
Neoplasm
1.4%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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