Childhood onset hereditary spastic paraplegia
Gene: SPG7Removed the Q2_23_MOI tag as the mode of inheritance for this gene has been updated to Both mono and biallelic.Created: 17 Oct 2023, 2:11 p.m. | Last Modified: 17 Oct 2023, 2:11 p.m.
Panel Version: 4.26
The 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, 5:14 p.m. | Last Modified: 10 Oct 2023, 5:14 p.m.
Panel Version: 4.20
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, 12:10 p.m. | Last Modified: 11 Apr 2023, 12:10 p.m.
Panel Version: 4.4
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Adult onset from age 15.Created: 10 May 2019, 10:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
In current HSP panel and In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 7, autosomal recessive
Onset typically occurs in adulthood, but can occurr early adolescence (14985266)Created: 25 Feb 2019, 11:10 a.m.
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
Tag Q2_23_MOI tag was added to gene: SPG7.
Publications for gene: SPG7 were set to 9635427
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 NHS GMS was added to SPG7.
Source London North GLH was added to SPG7.
Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Arianna Tucci: Onset at birth
Publications for gene: SPG7 were set to Casari et al (1998)
Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive to Spastic paraplegia 7, autosomal recessive, 607259
gene: SPG7 was added gene: SPG7 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to Casari et al (1998) Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive