Hereditary ataxia with onset in adulthood
Gene: PNKD
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 19 Sep 2019, 1:16 p.m. | Last Modified: 19 Sep 2019, 1:16 p.m.
Panel Version: 1.202
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.Created: 15 Apr 2019, 10:21 a.m.
Three missense variants reported in the lit in association with OMIM linked phenotype. However, ataxia and/or cerebellar abnormalities do not seem to have been described. ?possibility of described movement abnormalities being confused with ataxia and therefore worthy of inclusionCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paroxysmal nonkinesigenic dyskinesia 1, 118800
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Gene: pnkd has been classified as Green List (High Evidence).
Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD
Source NHS GMS was added to PNKD.
Source Wessex and West Midlands GLH was added to PNKD.
Checked panel against panel constituents. Ready to promote to version 1.
gene: PNKD was added gene: PNKD was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,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