Hereditary spastic paraplegia
Gene: SPG7Associated 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, 11:36 a.m. | Last Modified: 11 Apr 2023, noon
Panel Version: 1.308
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 14 Jun 2016, 9:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
complex (HSP plus optic atrophy, ataxia, white matter lesions at brain MRI) and pure HSP
Publications
Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mode of inheritance for gene: SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
SPG7 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
SPG7 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SPG7 was changed to BIALLELIC, autosomal or pseudoautosomal
SPG7 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
SPG7 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen