Hereditary ataxia with onset in adulthood
Gene: SPG7The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 4:24 p.m. | Last Modified: 10 Oct 2023, 4:24 p.m.
Panel Version: 4.24
Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomal.Created: 11 Apr 2023, 1:03 p.m. | Last Modified: 11 Apr 2023, 1:03 p.m.
Panel Version: 4.8
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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 stageCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spastic paraplegia 7, 607259
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_23_MOI was removed from gene: SPG7.
Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 25681447
Tag Q2_23_MOI tag was added to gene: SPG7.
Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia; Autosomal recessive spastic paraplegia 7, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
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