Paroxysmal central nervous system disorders
Gene: PNKD
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
DyskinesiaCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Paroxysmal nonkinesigenic dyskinesia 1, 118800
Gene: pnkd has been classified as Green List (High Evidence).
Phenotypes for gene: PNKD were changed from PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 to Paroxysmal nonkinesigenic dyskinesia 1, 118800
Mode of inheritance for gene: PNKD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to PNKD.
Source London North GLH was added to PNKD.
Source Wessex and West Midlands GLH was added to PNKD.
Added phenotypes PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 for gene: PNKD
gene: PNKD was added gene: PNKD was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PNKD were set to 15262732; 15496428; 15824259 Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1