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Possible mitochondrial disorder - nuclear genes

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

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

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: HSPD1 was added gene: HSPD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant 605280; Leukodystrophy, hypomyelinating, 4, 612233