Hereditary neuropathy
Gene: HSPB1
Multiple C5s in Bristol. Also well established from looking at HGMD. PMID: 28379183. 15122254 - first report, varaints segregating in multiple familiesCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot Marie Tooth disease, axonal, type 2F, 606595; Neuropathy, distal hereditary motor, type IIB, 608634
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
PMID: 28379183 - a homozygous variant reported in siblings with CMT - their unaffected parents are heterozygous. Unaffected siblings were homozygous for the wildtype allele. Should 'both' be added for the mode of inheritance for this gene?Created: 14 Aug 2017, 2:41 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.
Publications
Added phenotypes Neuropathy, distal hereditary motor, type IIB, 608634; Charcot Marie Tooth disease, axonal, type 2F, 606595 for gene: HSPB1 Publications for gene HSPB1 were changed from 28379183 to 15122254; 28379183
Source South West GLH was added to HSPB1.
Source NHS GMS was added to HSPB1.
Source London North GLH was added to HSPB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for HSPB1 were set to 28379183
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPB1 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 HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPB1 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 HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPB1 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 HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPB1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
HSPB1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory