Home > Gene Browser > PINK1

PINK1

Synonyms
BRPK, PARK6
External resources
Summary
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease.

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
9
Likely pathogenic
4
VUS
3,980
Likely benign
2,227
Benign
2,531

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on PINK1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.8%
Abnormality of the eye
38.5%
Abnormality of the musculoskeletal system
38.5%
Abnormality of the ear
30.8%
Abnormality of head or neck
23.1%
Abnormality of limbs
23.1%
Abnormality of the cardiovascular system
15.4%
Abnormality of the digestive system
15.4%
Growth abnormality
15.4%
Abnormality of the endocrine system
7.7%
Abnormality of the genitourinary system
7.7%
Neoplasm
7.7%
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 immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes