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PKD1

Synonyms
PBP, PC1, Pc-1, TRPP1
External resources
Summary
This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described.

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
45
Likely pathogenic
0
VUS
34,915
Likely benign
29,280
Benign
22,985

Patient phenotypes

Proportions of phenotypes among 40 patients carrying pathogenic or likely pathogenic variants on PKD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the genitourinary system
40%
Abnormality of the nervous system
20%
Abnormality of head or neck
17.5%
Abnormality of the musculoskeletal system
17.5%
Abnormality of the cardiovascular system
15%
Abnormality of the digestive system
15%
Abnormality of the eye
15%
Growth abnormality
15%
Abnormality of limbs
10%
Abnormality of the immune system
10%
Abnormality of the integument
7.5%
Abnormality of the ear
5%
Abnormality of the endocrine system
5%
Abnormality of the respiratory system
2.5%
Neoplasm
2.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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