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PNKD

Synonyms
BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR-1S, MR1, PDC, PKND1, PNKD1, R1, TAHCCP2
External resources
Summary
This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants.

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
23
Likely pathogenic
0
VUS
3,923
Likely benign
4,592
Benign
7,163

Patient phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on PNKD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.5%
Abnormality of the musculoskeletal system
31.8%
Abnormality of head or neck
22.7%
Abnormality of the cardiovascular system
18.2%
Abnormality of the ear
18.2%
Abnormality of limbs
13.6%
Abnormality of the eye
13.6%
Abnormality of the integument
13.6%
Abnormality of the digestive system
9.1%
Growth abnormality
9.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of prenatal development or birth
4.5%
Abnormality of the endocrine system
4.5%
Abnormality of the immune system
4.5%
Abnormality of the respiratory system
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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