Hereditary ataxia - adult onsetGene: SPG7
On Ox and Sheffield panels. Probably on HSP panel as well but important on both as overlap in ataxic and spastic features. Often requested by PG.
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.
Pretty much the single most common cause of recessive ataxia in adult cases - almost all cases at least compound heterozygous for p.Ala510Val (common variant in British Isles). Although AD variants have been suggested I do not feel there is compelling enough evidence to report heterozygous variants at this stage
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Autosomal recessive spastic paraplegia 7, 607259
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to SPG7.
Added phenotypes Autosomal recessive spastic paraplegia 7, 607259 for gene: SPG7
Source NHS GMS was added to SPG7.
Source Wessex and West Midlands GLH was added to SPG7.
Checked panel against panel constituents. Ready to promote to version 1.
gene: SPG7 was added gene: SPG7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to 25681447 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia