Brain channelopathy
Gene: ATP1A3Comment when marking as ready: Associated with phenotype in OMIM. Also causes dystonia-12 and CAPOS syndromeCreated: 21 Feb 2017, 2:30 p.m.
Comment on mode of inheritance: Source: OMIM.Created: 10 Jun 2016, 3:30 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, 3:18 p.m.
Phenotypes for ATP1A3 were set to DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820;
This gene has been classified as Green List (High Evidence).
Promoted to V1. January 23 2017
This gene has been classified as Green List (High Evidence).
Publications for ATP1A3 were set to 22842232; 22850527
Mode of inheritance for ATP1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ATP1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
ATP1A3 was added to Brain channelopathypanel. Sources: UKGTN