Inherited white matter disorders

Gene: HSPD1

Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. The missense p.Leu47Val variant has a dominant negative effect.

This gene is also Amber with a recommendation to promote to Green on the White matter disorders and cerebral calcification - narrow panel (Version 1.127). With the following review from Zornitza Stark (Australian Genomics):

"Multiple families reported with bi-allelic variants in HSPD1 and hypomyelinating leukodystrophy. Supportive mouse model. In addition, two unrelated individuals reported with same de novo missense p.Leu47Val and leukodystrophy.
Zornitza Stark (Australian Genomics), 15 Sep 2020"

Created: 27 May 2021, 9:36 a.m. | Last Modified: 27 May 2021, 9:36 a.m.

Panel Version: 1.107

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

• 18571143, 28377887

Variants in this GENE are reported as part of current diagnostic practice