Brain channelopathy
Gene: ATP1A2Comment when marking as ready: Associated with phenotype in OMIMCreated: 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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
familial hemiplegic migraine type 2; familial basilar migraine; alternating hemiplegia of childhood
Publications
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.
Phenotypes for ATP1A2 were set to familial hemiplegic migraine type 2, 602481; familial basilar migraine 602481; alternating hemiplegia of childhood 104290
This gene has been classified as Green List (High Evidence).
Promoted to V1. January 23 2017
Phenotypes for ATP1A2 were set to familial hemiplegic migraine type 2; familial basilar migraine; alternating hemiplegia of childhood
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
Mode of inheritance for ATP1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for ATP1A2 were set to 12539047; 12953268; 18056581
Mode of inheritance for ATP1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
ATP1A2 was added to Brain channelopathypanel. Sources: UKGTN