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Genetic epilepsy syndromes

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 16 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

A single large family with brain hypomyelination and leukodystrophy, PMID 18571143. Otherwise, very limited evidence of the effect on HSPD1 mutations.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy hypomyelinating 4, 612233; Spastic paraplegia 13, 605280

Ivone Leong (Genomics England Curator)

Comment when marking as ready: HSPD1 remains as an amber gene as there is not enough evidence to promote it to a green gene. I have added the watchlist tag.
Created: 3 Dec 2018, 10:37 a.m.
Comment when marking as ready: Leukodystrophy, hypomyelinating, 4 is associated with HSPD1 on OMIM and Gene2Phenotype, and seizures is listed as a phenotype on both databases. However, there are only 2 reported families with variants in this gene. In one large family (PMID:18571143) of Israeli descent with 6 of 10 affected members who have seizures. In another study (PMID:30083362) one patient (Japanese) with a different variant in HSPD1 also has seizures. I could not access the other publication mentioned by (Zornitza Stark (Australian Genomics)) (PMID: 27405012); however, as the paper reported a patient from the same geographical area as the PMID: 18571143 report who has the same mutation I have not counted this as a third case. Therefore, there is not enough evidence to promote this gene to green.
Created: 15 Nov 2018, 5:23 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this leukodystrophy.
Created: 15 Aug 2018, 2:03 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

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HSPD1.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HSPD1.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

3 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

15 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

15 Nov 2018, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: HSPD1.

15 Nov 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HSPD1 were set to

15 Nov 2018, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: HSPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal

15 Nov 2018, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HSPD1 were changed from to Leukodystrophy, hypomyelinating, 4, 612233

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to HSPD1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

HSPD1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

HSPD1 was created by Sarah Leigh