Hereditary ataxia - adult onsetGene: ATP1A2
Phenotype does not include ataxia. Is it better on a migraine panel (if there is one) or movement panel? 87 DM in HGMD
Created: 27 Apr 2019, 7:39 p.m.
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 Green
Created: 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.
AHC1 does is not necessarily associated with ataxia but features could be confused, ataxia and 'cerebellar signs' reported in FHM2
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Source London North GMS was added to ATP1A2.
Added phenotypes Alternating hemiplegia of childhood 1, 104290; Familial hemiplegic migraine 2, 602481 for gene: ATP1A2
Source NHS GMS was added to ATP1A2.
Source Wessex and West Midlands GLH was added to ATP1A2.
Checked panel against panel constituents. Ready to promote to version 1.
Tag treatable tag was added to gene: ATP1A2.
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