PNKD Chromosome 2
PNKD metallo-beta-lactamase domain containing
Upload your DNA to see your personal genotypes for variants in PNKD.
What This Gene Does
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. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|MBL domain containing glyoxalase 2 subfamily|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000127838
Associated Conditions (9)
Paroxysmal nonkinesigenic dyskinesia 1
Paroxysmal nonkinesigenic dyskinesia
PNKD-related disorder
Inborn genetic diseases
Young-onset Parkinson disease
Cervical cancer
Paroxysmal dyskinesia
Episodic hemiplegia
Paroxysmal dystonia
Key Variants
RS121434513
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1
Health Risk
RS139122042
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1
Health Risk
RS142536637
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1, PNKD-related disorder
Health Risk
RS185906233
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia
Health Risk
RS199572198
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases, Paroxysmal nonkinesigenic dyskinesia
Health Risk
RS200042352
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia
Health Risk
RS200815994
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases, Paroxysmal nonkinesigenic dyskinesia
Health Risk
RS201495280
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia
Health Risk
RS202190131
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1
Health Risk
RS202211738
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases, Paroxysmal nonkinesigenic dyskinesia
Health Risk
RS370929830
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Young-onset Parkinson disease
Health Risk
RS374529489
Conflicting classifications of pathogenicity
Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases, Paroxysmal nonkinesigenic dyskinesia
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434513 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1 |
| RS139122042 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1 |
| RS142536637 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1, PNKD-related disorder |
| RS185906233 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia |
| RS199572198 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases, Paroxysmal nonkinesigenic dyskinesia |
| RS200042352 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia |
| RS200815994 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases, Paroxysmal nonkinesigenic dyskinesia |
| RS201495280 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia |
| RS202190131 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1 |
| RS202211738 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases, Paroxysmal nonkinesigenic dyskinesia |
| RS370929830 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Young-onset Parkinson disease |
| RS374529489 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases, Paroxysmal nonkinesigenic dyskinesia |
| RS374645683 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases |
| RS375550686 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia |
| RS533033409 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia |
| RS753020574 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia 1 |
| RS753100961 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases, Paroxysmal nonkinesigenic dyskinesia |
| RS759669801 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1 |
| RS775603840 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases, Paroxysmal nonkinesigenic dyskinesia |
| RS780123062 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia |
| RS121434511 | Health Risk | Pathogenic/Likely pathogenic | Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal dyskinesia, Episodic hemiplegia |
| RS121434512 | Health Risk | Pathogenic/Likely pathogenic | Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1 |