Brain channelopathy
Gene: PNKD

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

3 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Associated with the phenotype in OMIM
Created: 21 Feb 2017, 2:44 p.m.

Created: 21 Feb 2017, 2:44 p.m.

Panel version: 1.1

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

One more common mutation: A9V. Reduced penetrance
Created: 6 Jan 2017, 3:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 6 Jan 2017, 3:39 p.m.

Panel version: 0.26

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 3:19 p.m.

Created: 10 Jun 2016, 3:19 p.m.

Panel version: 0.8

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
UKGTN

Phenotypes

PAROXYSMAL NONKINESIGENIC DYSKINESIA 1

OMIM

609023

Clinvar variants

Variants in PNKD

Penetrance

Incomplete

Publications

Panels with this gene