Paroxysmal central nervous system disorders
Gene: ATP1A2
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
MigraineCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Migraine, familial basilar, 602481; Migraine, familial hemiplegic, 2, 602481; alternating hemiplegia of childhood 1, 104290
Phenotypes for gene: ATP1A2 were changed from Migraine, familial hemiplegic, 2, 602481; Migraine, familial basilar, 602481alternating hemiplegia of childhood 104290 to Migraine, familial hemiplegic, 2, 602481; Migraine, familial basilar, 602481; alternating hemiplegia of childhood 104290
Phenotypes for gene: ATP1A2 were changed from familial basilar migraine 602481; alternating hemiplegia of childhood 104290; familial hemiplegic migraine type 2, 602481 to Migraine, familial hemiplegic, 2, 602481; Migraine, familial basilar, 602481alternating hemiplegia of childhood 104290
Gene: atp1a2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ATP1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to ATP1A2.
Source London North GLH was added to ATP1A2.
Source Wessex and West Midlands GLH was added to ATP1A2.
Added phenotypes familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290 for gene: ATP1A2
gene: ATP1A2 was added gene: ATP1A2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581 Phenotypes for gene: ATP1A2 were set to familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290