Adult onset hereditary spastic paraplegia
Gene: SPG7The mode of inheritance of this gene has been updated to XX following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 5:08 p.m. | Last Modified: 10 Oct 2023, 5:08 p.m.
Panel Version: 3.19
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, 12:16 p.m. | Last Modified: 11 Apr 2023, 12:16 p.m.
Panel Version: 3.2
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications
Adult onset from age 15.Created: 10 May 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
In current HSP panel + In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 7, autosomal recessive, 607259
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
Tag Q2_23_MOI tag was added to gene: SPG7.
Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Source Yorkshire and North East GLH was added to SPG7.
Source Expert Review Green was added to SPG7. Mode of inheritance for gene SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to SPG7.
gene: SPG7 was added gene: SPG7 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPG7 was set to