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Hereditary neuropathy
Gene: HSPB1

HSPB1 (heat shock protein family B (small) member 1)
EnsemblGeneIds (GRCh38): ENSG00000106211
EnsemblGeneIds (GRCh37): ENSG00000106211
OMIM: 602195, Gene2Phenotype
HSPB1 is in 4 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Multiple C5s in Bristol. Also well established from looking at HGMD. PMID: 28379183. 15122254 - first report, varaints segregating in multiple families
Created: 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

Created: 29 Apr 2019, 12:30 p.m.

Panel version: 1.58

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 29 Apr 2019, 9:26 a.m.

Panel version: 1.80

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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

Created: 29 Apr 2019, 9:20 a.m.

Panel version: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

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

28379183

Created: 14 Aug 2017, 2:38 p.m.

Panel version: 1.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

South West GLH
NHS GMS
London North GLH
Expert Review Green
Emory Genetics Laboratory
UKGTN
Radboud University Medical Center, Nijmegen
Expert list
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Neuropathy, distal hereditary motor, type IIB, 608634
Neuropathy, distal hereditary motor, type IIB, 608634
Charcot Marie Tooth disease, axonal, type 2F, 606595

OMIM

602195

Clinvar variants

Variants in HSPB1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to HSPB1.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HSPB1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to HSPB1. Rating Changed from Green List (high evidence) to Green List (high evidence)

14 Aug 2017, Gel status: 4