Brain channelopathy
Gene: ATP1A3EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels
3 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM. Also causes dystonia-12 and CAPOS syndromeCreated: 21 Feb 2017, 2:30 p.m.
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- DYSTONIA 12, 128235
- ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
- Tags
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Auditory Neuropathy Spectrum Disorde
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Brain channelopathy
- Paroxysmal central nervous system disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for ATP1A3 were set to DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820;
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for ATP1A3 were set to 22842232; 22850527
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for ATP1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ATP1A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ATP1A3 was added to Brain channelopathypanel. Sources: UKGTN