Hereditary neuropathy
Gene: HSPB8
Bristol - no pathogenic or likely pathogenic variants out of approx. 1900 patients tested. From HGMD appears there is a variant hotspot at p.Lys141 - backup with functional studies. PMID: 28780615 - A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8. PMID: 23389032 - mouse model showing cardiomyopathy phenotypeCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot Marie Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene is in the Charcot Marie Tooth Disease section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of dHMN.Created: 10 Jun 2016, 1:24 p.m.
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:06 p.m.
Added phenotypes Charcot Marie Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590 for gene: HSPB8 Publications for gene HSPB8 were changed from to 28780615; 23389032
Source South West GLH was added to HSPB8.
Source NHS GMS was added to HSPB8.
Source London North GLH was added to HSPB8. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene HSPB8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPB8 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene HSPB8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPB8 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene HSPB8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPB8 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene HSPB8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPB8 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
HSPB8 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory