Inherited white matter disorders

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 16 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. The missense p.Leu47Val variant has a dominant negative effect.

This gene is also Amber with a recommendation to promote to Green on the White matter disorders and cerebral calcification - narrow panel (Version 1.127). With the following review from Zornitza Stark (Australian Genomics):

"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.
Zornitza Stark (Australian Genomics), 15 Sep 2020"
Created: 27 May 2021, 9:36 a.m. | Last Modified: 27 May 2021, 9:36 a.m.
Panel Version: 1.107

Zornitza Stark (Australian Genomics)

I don't know

Single large consanguineous family reported in the literature with multiple affected individuals, functional data.
Created: 24 Jul 2018, 2:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 4 (MIM#612233)

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

27 May 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

27 May 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HSPD1 were set to 18571143; 28377887

27 May 2021, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

27 May 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 to Leukodystrophy, hypomyelinating, 4, OMIM:612233

27 May 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HSPD1 were set to

6 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

19 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HSPD1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

19 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HSPD1 was created by ellenmcdonagh