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Mitochondrial disease

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.

In addition, mono-allelic variants found in families with SPG.
Created: 5 May 2022, 12:42 a.m. | Last Modified: 5 May 2022, 12:42 a.m.
Panel Version: 0.13764

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 4, MIM# 612233; Spastic paraplegia 13, autosomal dominant, MIM# 605280

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
118190
Clinvar variants
Variants in HSPD1
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSPD1 was added gene: HSPD1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: HSPD1 was set to Unknown