Paroxysmal central nervous system disorders
Gene: ATP1A3
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
Episodic ataxiaCreated: 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
Dystonia-12, 128235; Alternating hemiplegia of childhood 2, 614820; CAPOS syndrome, 601338
Variants in this GENE are reported as part of current diagnostic practice
Gene: atp1a3 has been classified as Green List (High Evidence).
Phenotypes for gene: ATP1A3 were changed from DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 to Dystonia-12, 128235; Alternating hemiplegia of childhood 2, 614820; CAPOS syndrome, 601338
Mode of inheritance for gene: ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to ATP1A3.
Source London North GLH was added to ATP1A3.
Source Wessex and West Midlands GLH was added to ATP1A3.
Added phenotypes DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 for gene: ATP1A3
gene: ATP1A3 was added gene: ATP1A3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to 22842232; 22850527 Phenotypes for gene: ATP1A3 were set to DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820