White matter disorders and cerebral calcification - narrow panel
Gene: HSPD1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
The missense p.Leu47Val variant has a dominant negative effect.Created: 27 May 2021, 9:34 a.m. | Last Modified: 27 May 2021, 9:34 a.m.
Panel Version: 1.127
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.Created: 15 Sep 2020, 12:10 p.m. | Last Modified: 15 Sep 2020, 12:10 p.m.
Panel Version: 1.14
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 4, MIM# 612233
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: HSPD1.
Source NHS GMS was added to HSPD1. Source Expert Review Green was added to HSPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: HSPD1.
Mode of inheritance for gene: HSPD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HSPD1 were set to 18571143; 27405012; 32532876; 28377887; 27405012
Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, OMIM:612233; Spastic paraplegia 13, autosomal dominant, OMIM:605280 to Leukodystrophy, hypomyelinating, 4, OMIM:612233
Publications for gene: HSPD1 were set to
Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280 to Leukodystrophy, hypomyelinating, 4, OMIM:612233; Spastic paraplegia 13, autosomal dominant, OMIM:605280
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: HSPD1 was added gene: HSPD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: HSPD1 was set to Unknown Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280