Hereditary spastic paraplegia
Gene: SPASTThis 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.
By far the most common cause of pure HSP. All types of mutations described.Created: 13 Jan 2016, 3:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
pure hereditary spastic paraplegia
Publications
Mode of pathogenicity
Other
Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438
Publications for gene: SPAST were set to Hazan et al (1999)
This gene has been classified as Green List (High Evidence).
SPAST was added to Hereditary spastic paraplegiapanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPAST was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPAST was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SPAST was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPAST was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
SPAST was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen