Hereditary ataxia with onset in adulthood
Gene: SNX14
On Ox and Sheffield panels. SCAR20.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 reports in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia 20, 616354
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to SNX14.
Added phenotypes Autosomal recessive spinocerebellar ataxia 20, 616354 for gene: SNX14
Source NHS GMS was added to SNX14.
Source Wessex and West Midlands GLH was added to SNX14.
Checked panel against panel constituents. Ready to promote to version 1.
gene: SNX14 was added gene: SNX14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia (#616354)