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  3. HSPD1
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Childhood onset dystonia, chorea or related movement disorder

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 15 panels

3 reviews

Eleanor Williams (Genomics England Curator)

The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 6:27 p.m. | Last Modified: 30 Jan 2023, 6:32 p.m.
Panel Version: 2.10
Created: 30 Jan 2023, 6:27 p.m.
Last Modified: 30 Jan 2023, 6:32 p.m.
Panel version: 2.10

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update. Biallelic variants cause a paediatric-onset leukodystrophy (MIM# 612233) which features motor disability associated progressive limb spasticity and contractures, and some patients have been found to have choreoatetotic movements (PMID: 18571143, 27405012). On the other hand, monoallelic variants are associated with a pure adult-onset HSP (SPG13, MIM# 605280) which is not pertinent to this panel.
Created: 13 Apr 2022, 4:12 p.m. | Last Modified: 13 Apr 2022, 4:12 p.m.
Panel Version: 1.228
Created: 13 Apr 2022, 4:12 p.m.
Last Modified: 13 Apr 2022, 4:12 p.m.
Panel version: 1.228

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_22_MOI was removed from gene: HSPD1.

30 Jan 2023, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

13 Apr 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: HSPD1 were set to

13 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (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

13 Apr 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_22_MOI tag was added to gene: HSPD1.

13 Apr 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

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

9 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

6 Dec 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: HSPD1 was added gene: HSPD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: HSPD1 was set to