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  2. Hereditary Spastic Paraplegia - adult onset
  3. HSPD1
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Hereditary Spastic Paraplegia - adult onset

Gene: HSPD1

Amber List (moderate evidence)
HSPD1 (heat shock protein family D (Hsp60) member 1)
EnsemblGeneIds (GRCh38): ENSG00000144381
EnsemblGeneIds (GRCh37): ENSG00000144381
OMIM: 118190, Gene2Phenotype
HSPD1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families and some functional data. Note bi-allelic and mono-allelic variants are also associated with a hypomyelinating leukodystrophy phenotype of childhood onset.
Created: 22 Sep 2020, 4:59 a.m. | Last Modified: 22 Sep 2020, 4:59 a.m.
Panel Version: 0.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 13, autosomal dominant, MIM# 605280

Publications

Created: 22 Sep 2020, 4:59 a.m.
Last Modified: 22 Sep 2020, 4:59 a.m.
Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, MIM# 605280
OMIM
118190
Clinvar variants
Variants in HSPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hspd1 has been classified as Amber List (Moderate Evidence).

22 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 to Spastic paraplegia 13, autosomal dominant, MIM# 605280

22 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HSPD1 were set to

22 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hspd1 has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HSPD1 was added gene: HSPD1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280