Hereditary ataxia with onset in adulthood
Gene: CACNA1G
On Sheffield panel. Phenotype is relevant and lots of families published. 6 disease causing mutations on HGMD.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.
Ataxic phenotypes linked to GoF missense variants. Functional evidence provided for a number of missense variants. Two recurrent missense variants reported: p.Arg1715His and p.Ala961ThrCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 42, 616795 and early-onset SCA42 with neurodevelopmental deficits, 618087
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 CACNA1G.
Added phenotypes Spinocerebellar ataxia 42, 616795; early-onset SCA42 with neurodevelopmental deficits, 618087 for gene: CACNA1G
Source NHS GMS was added to CACNA1G.
Source Wessex and West Midlands GLH was added to CACNA1G.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 616795
gene: CACNA1G was added gene: CACNA1G was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene: CACNA1G was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments