Hereditary spastic paraplegia
Gene: HSPD1Comment on mode of inheritance: Updated from 'monoallelic' only to 'both mono- and biallelic'. Biallelic variants cause a paediatric-onset leukodystrophy, with spasticity as a feature (MIM# 612233), while monoallelic variants have been associated with adult-onset HSP (MIM# 605280) - both phenotypes are relevant to this panel.Created: 13 Apr 2022, 2:59 p.m. | Last Modified: 13 Apr 2022, 2:59 p.m.
Panel Version: 1.294
Phenotypes
Hereditary spastic paraplegia; HYPOMYELINATING LEUKODYSTROPHY for biallelic mutations
Publications
Publications for gene: HSPD1 were set to Hansen et al. (2002)
Mode of inheritance for gene: HSPD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant to Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR); Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPD1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPD1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen
Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPD1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen
HSPD1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen