Auditory Neuropathy Spectrum Disorde
Gene: ATP1A3
ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels
1 review
Maria Bitner-Glindzicz (UCL)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- 601338
- 614820
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- Complete
- Publications
-
- PMID: 25447930
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- 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
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for ATP1A3 were set to 601338;614820
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
30 Sep 2015, Gel status: 0
Added New Source
Maria Bitner-Glindzicz (UCL)ATP1A3 was added to Auditory Neuropathy Spectrum Disorder panel. Sources: Expert Review