Brain channelopathy

Gene: ATP1A2

Green List (high evidence)

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

3 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM
Created: 21 Feb 2017, 2:28 p.m.
Comment when marking as ready: Changed penetrance to incomplete. Added 'treatable' tag.
Created: 17 Jan 2017, 2:18 p.m.

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
familial hemiplegic migraine type 2; familial basilar migraine; alternating hemiplegia of childhood

Publications

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: OMIM.
Created: 10 Jun 2016, 3:29 p.m.
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, 3:17 p.m.

History Filter Activity

22 Feb 2017, Gel status: 4

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for ATP1A2 were set to familial hemiplegic migraine type 2, 602481; familial basilar migraine 602481; alternating hemiplegia of childhood 104290

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

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for ATP1A2 were set to familial hemiplegic migraine type 2; familial basilar migraine; alternating hemiplegia of childhood

18 Jan 2017, Gel status: 4

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for ATP1A2 were set to MIGRAINE, FAMILIAL HEMIPLEGIC, 2; ALTERNATIN G HEMIPLEGIA OF CHILDHOOD 1; familial hemiplegic migraine type 2; familial basilar migraine; alternating hemiplegia of childhood

18 Jan 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for ATP1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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).

17 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

17 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

17 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

17 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

17 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

17 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

13 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for ATP1A2 were set to 12539047; 12953268; 18056581

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ATP1A2 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)

ATP1A2 was added to Brain channelopathypanel. Sources: UKGTN