Hereditary ataxia with onset in adulthood
Gene: SPR
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 literature, ataxia listed as part of OMIM phenotype. Single case report of AD disease (milder) associated with a missense variant - not enough to warrant reporting heterozygous variantsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716
Added phenotypes Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716 for gene: SPR
Source NHS GMS was added to SPR.
Source Wessex and West Midlands GLH was added to SPR.
Checked panel against panel constituents. Ready to promote to version 1.
gene: SPR was added gene: SPR was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716