Inherited white matter disordersGene: 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
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
Leukodystrophy, hypomyelinating, 4 (MIM#612233)
Variants in this GENE are reported as part of current diagnostic practice
Gene: hspd1 has been classified as Green List (High Evidence).
Publications for gene: HSPD1 were set to 18571143; 28377887
Mode of inheritance for gene: HSPD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 to Leukodystrophy, hypomyelinating, 4, OMIM:612233
Publications for gene: HSPD1 were set to
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
HSPD1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
HSPD1 was created by ellenmcdonagh