Inherited white matter disorders

Gene: HSPD1

Red List (low evidence)

HSPD1 (heat shock protein family D (Hsp60) member 1)
EnsemblGeneIds (GRCh38): ENSG00000144381
EnsemblGeneIds (GRCh37): ENSG00000144381
OMIM: 118190, Gene2Phenotype
HSPD1 is in 15 panels

1 review

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

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: 0

Created

Ellen McDonagh (Genomics England Curator)

HSPD1 was created by ellenmcdonagh

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