Adult onset neurodegenerative disorder
Gene: PINK1
Age at onset ranged from 18 to 56 years, although most had onset in the third or fourth decades. >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 6, early onset, 605909; Dystonia; Parkinson Disease 6, Autosomal Recessive Early-Onset
Wide range for age of onsetCreated: 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 6, early onset, 605909; Dystonia; Parkinson Disease 6, Autosomal Recessive Early-Onset
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: PINK1 were changed from Parkinson disease 6, early onset, 605909; Dystonia; Parkinson Disease 6, Autosomal Recessive Early-Onset to Parkinson disease 6, early onset, OMIM:605909; Dystonia
Source Wessex and West Midlands GLH was added to PINK1.
Publications for gene PINK1 were changed from 15087508 to 15087508; 15349870
Publications for gene: PINK1 were set to Parkinson disease 6, early onset
Source Yorkshire and North East GLH was added to PINK1.
Source NHS GMS was added to PINK1.
Source London North GLH was added to PINK1.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Parkinson disease 6, early onset, 605909; Parkinson Disease 6, Autosomal Recessive Early-Onset for gene: PINK1
gene: PINK1 was added gene: PINK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PINK1 were set to Parkinson disease 6, early onset Phenotypes for gene: PINK1 were set to Dystonia