Early onset dystonia
Gene: ATP1A2

ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels

1 review

Ellen McDonagh (Genomics England Curator)

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, 9:07 a.m.

Created: 10 Jun 2016, 9:07 a.m.

Panel version: 0.133

Details

Sources

Emory Genetics Laboratory

Phenotypes

Dystonia
migraine

OMIM

182340

Clinvar variants

Variants in ATP1A2

Penetrance

Complete

Panels with this gene

History Filter Activity

17 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

9 Jun 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ATP1A2 were set to Dystonia; migraine

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ATP1A2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory

Early onset dystonia Gene: ATP1A2