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  2. Paroxysmal Dyskinesia
  3. PRKN
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Paroxysmal Dyskinesia

Gene: PRKN

Amber List (moderate evidence)
PRKN (parkin RBR E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000185345
EnsemblGeneIds (GRCh37): ENSG00000185345
OMIM: 602544, Gene2Phenotype
PRKN is in 8 panels

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

I don't know

Only a single report but the phenotypic description and accompanying parkinsonism make this a likely robust finding.
Sources: Literature
Created: 15 Sep 2023, 4:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism

Publications

Created: 15 Sep 2023, 4:53 a.m.

Panel version: 0.112

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Parkinson disease, juvenile, type 2 MIM#600116
  • paroxysmal exercise induced dyskinesia
  • fasting induced dyskinesia
  • early onset parkinsonism
OMIM
602544
Clinvar variants
Variants in PRKN
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

18 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkn has been classified as Amber List (Moderate Evidence).

18 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKN were changed from paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism to Parkinson disease, juvenile, type 2 MIM#600116; paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism

18 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkn has been classified as Amber List (Moderate Evidence).

15 Sep 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: PRKN was added gene: PRKN was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKN were set to 37205242 Phenotypes for gene: PRKN were set to paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism Penetrance for gene: PRKN were set to Incomplete Review for gene: PRKN was set to AMBER