Adult onset neurodegenerative disorder
Gene: PRKN
An autosomal recessive form of familial juvenile parkinsonism, defined as onset before age 40 years, >3 casesCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease, juvenile, type 2; Dystonia; Parkinson Disease 2, Autosomal Recessive Juvenile; juvenile parkinsonism/dystonia; Parkinson Disease, Juvenile
Onset before age 40 years.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease, juvenile, type 2; Dystonia; Parkinson Disease 2, Autosomal Recessive Juvenile; juvenile parkinsonism/dystonia; Parkinson Disease, Juvenile
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PRKN were changed from Parkinson disease, juvenile, type 2; Dystonia; Parkinson Disease 2, Autosomal Recessive Juvenile; juvenile parkinsonism/dystonia; Parkinson Disease, Juvenile to Parkinson disease, juvenile, type 2, OMIM:600116; Dystonia
Source Wessex and West Midlands GLH was added to PRKN.
Publications for gene PRKN were changed from PMID: 22956510 to 22956510; 12056932; 9560156
Source Yorkshire and North East GLH was added to PRKN.
Source NHS GMS was added to PRKN.
Source London North GLH was added to PRKN.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia for gene: PRKN
gene: PRKN was added gene: PRKN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKN were set to PMID: 22956510 Phenotypes for gene: PRKN were set to Parkinson Disease 2, Autosomal Recessive Juvenile; Parkinson Disease, Juvenile