Hereditary ataxia with onset in adulthood
Gene: ADCY5
22 DM in HGMD. Phenotype is relevant.Created: 27 Apr 2019, 7:39 p.m.
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.
Multiple families reported in literature - seems to be a 'movement disorder' rather than true ataxia, probably worth inclusionCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskinesia with facial myokymia
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 ADCY5.
Added phenotypes Dyskinesia with facial myokymia for gene: ADCY5
Source NHS GMS was added to ADCY5.
Source Wessex and West Midlands GLH was added to ADCY5.
Checked panel against panel constituents. Ready to promote to version 1.
gene: ADCY5 was added gene: ADCY5 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADCY5 were set to 11310626; 24700542 Phenotypes for gene: ADCY5 were set to Familial dyskinesia 606703