1. Panels
  2. Leukodystrophy - paediatric
  3. HSPD1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Leukodystrophy - paediatric

Gene: HSPD1

Green List (high 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)

Green List (high evidence)

Multiple families reported with bi-allelic variants in HSPD1 and hypomyelinating leukodystrophy. Supportive mouse model. In addition, two unrelated individuals reported with same de novo missense p.Leu47Val and leukodystrophy.
Created: 15 Sep 2020, 12:08 p.m. | Last Modified: 15 Sep 2020, 12:08 p.m.
Panel Version: 0.183

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 4, MIM# 612233

Publications

Created: 15 Sep 2020, 12:08 p.m.
Last Modified: 15 Sep 2020, 12:08 p.m.
Panel version: 0.183

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, 605280
  • Leukodystrophy, hypomyelinating, 4, 612233
OMIM
118190
Clinvar variants
Variants in HSPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hspd1 has been classified as Green List (High Evidence).

15 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HSPD1 were set to

15 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HSPD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

30 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 Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HSPD1 was set to Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233