Hereditary ataxia
Gene: ATP1A3
ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 17 panels
1 review
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of evidence in literature. Positives in our cohortCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
- Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- Complete
- Panels with this gene
-
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia, childhood onset
- Malformations of cortical development
- Hereditary ataxia
- Hereditary ataxia, adult onset
- DDG2P
- Fetal anomalies
- Auditory Neuropathy Spectrum Disorde
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Brain channelopathy
- Paroxysmal central nervous system disorders
History Filter Activity
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Nov 2015, Gel status: 0
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)ATP1A3 was added to Hereditary ataxiapanel. Sources: Expert List
24 Nov 2015, Gel status: 0
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)ATP1A3 was created by jonathan.williams