Hereditary spastic paraplegia
Gene: HSPD1EnsemblGeneIds (GRCh38): ENSG00000144381
EnsemblGeneIds (GRCh37): ENSG00000144381
OMIM: 118190, Gene2Phenotype
HSPD1 is in 15 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
helen kingston (CMFT NHS Foundation Trust, Manchester)
emma baple (Genomics England Curator)
Phenotypes
Hereditary spastic paraplegia; HYPOMYELINATING LEUKODYSTROPHY for biallelic mutations
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR)
- Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
- OMIM
- 118190
- Clinvar variants
- Variants in HSPD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- DDG2P
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: HSPD1 were set to Hansen et al. (2002)
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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)
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HSPD1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HSPD1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HSPD1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)HSPD1 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen