Brain channelopathy

Gene: PNKD

Green List (high evidence)

PNKD (paroxysmal nonkinesigenic dyskinesia)
EnsemblGeneIds (GRCh38): ENSG00000127838
EnsemblGeneIds (GRCh37): ENSG00000127838
OMIM: 609023, Gene2Phenotype
PNKD is in 9 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.

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

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.

Details

History Filter Activity

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Jan 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1. January 23 2017

18 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for PNKD were set to 15262732; 15496428; 15824259

18 Jan 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PNKD was added to Brain channelopathypanel. Sources: UKGTN