Hereditary ataxia with onset in adulthood
Gene: PNKD

PNKD (paroxysmal nonkinesigenic dyskinesia)
EnsemblGeneIds (GRCh38): ENSG00000127838
EnsemblGeneIds (GRCh37): ENSG00000127838
OMIM: 609023, Gene2Phenotype
PNKD is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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 inclusion
Created: 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

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS
Wessex and West Midlands GLH
Brain channelopathy v1.46

Phenotypes

Paroxysmal nonkinesigenic dyskinesia 1, 118800
PAROXYSMAL NONKINESIGENIC DYSKINESIA 1

OMIM

609023

Clinvar variants

Variants in PNKD

Penetrance

None

Publications

Panels with this gene