Hereditary ataxia with onset in adulthood
Gene: ATP1A2EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Phenotype does not include ataxia. Is it better on a migraine panel (if there is one) or movement panel? 87 DM in HGMDCreated: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
AHC1 does is not necessarily associated with ataxia but features could be confused, ataxia and 'cerebellar signs' reported in FHM2Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alternating hemiplegia of childhood 1, 104290, Familial hemiplegic migraine 2, 602481
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Brain channelopathy v1.46
- Phenotypes
-
- Alternating hemiplegia of childhood 1, 104290
- Familial hemiplegic migraine 2, 602481
- Tags
- OMIM
- 182340
- Clinvar variants
- Variants in ATP1A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal muscle channelopathy
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Arthrogryposis
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Familial cerebral small vessel disease
- Severe microcephaly
- Paroxysmal central nervous system disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to ATP1A2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Alternating hemiplegia of childhood 1, 104290; Familial hemiplegic migraine 2, 602481 for gene: ATP1A2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATP1A2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to ATP1A2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: ATP1A2.
Created, Added New Source, Set mode of inheritance, Set publications
Eleanor Williams (Genomics England Curator)gene: ATP1A2 was added gene: ATP1A2 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581