Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

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

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Monallelic = Spastic paraplegia 13, autosomal dominant, biallelic = Leukodystrophy, hypomyelinating, 4.
Created: 2 Mar 2016, 12:36 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a G2P DD and IF gene for SPASTIC PARAPLEGIA AUTOSOMAL DOMINANT TYPE 13 and LEUKODYSTROPHY HYPOMYELINATING TYPE 4.
Created: 2 Mar 2016, 12:35 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Leukodystrophy, hypomyelinating, 4, 612233
  • Spastic paraplegia 13, autosomal dominant, 605280
OMIM
118190
Clinvar variants
Variants in HSPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HSPD1. Source London North GLH was added to HSPD1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Leukodystrophy, hypomyelinating, 4, 612233; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1 Publications for gene HSPD1 were changed from to 27604308

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HSPD1 was added gene: HSPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280