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Hereditary neuropathy NOT PMP22 copy number

Gene: HSPB3

Red List (low evidence)

HSPB3 (heat shock protein family B (small) member 3)
EnsemblGeneIds (GRCh38): ENSG00000169271
EnsemblGeneIds (GRCh37): ENSG00000169271
OMIM: 604624, Gene2Phenotype
HSPB3 is in 4 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Bristol - no pathogenic or likely pathogenic variants out of approx. 1900 patients tested. Only 1 pathogenic variant on HGMD. PMID: 20142617 and PMID: 27549087. But gnomAD data now indicates this is likely benign (177/282568 alleles including 1 homozygote in dominant gene)
Created: 29 Apr 2019, 12:30 p.m.

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

Phenotypes
?Neuronopathy, distal hereditary motor, type IIC, 613376

Publications

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

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.

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

Red List (low evidence)

Just 2 families in the literature?
Created: 29 Apr 2019, 9:20 a.m.

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

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

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.
Comment on list classification: Due to only one family report, this gene should remain red.
Created: 4 May 2016, 11:49 a.m.

Alexander Rossor (UCL Institute of Neurology)

Red List (low evidence)

Only ever reported in 2 sibling, no functional data and never replicated. Unliekyl to be pathogenic. Suggest remove from panel.
Created: 9 Dec 2015, 8:49 a.m.

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

Mary Reilly (Institute of Neurology)

Red List (low evidence)

Only ever reported in 2 sibling, no functional data and never replicated. Unliekyl to be pathogenic. Suggest remove from panel.
Created: 8 Dec 2015, 3:05 p.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • Expert Review Red
  • UKGTN
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type IIC, 613376
OMIM
604624
Clinvar variants
Variants in HSPB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HSPB3 was added gene: HSPB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HSPB3 were set to 27549087; 20142617 Phenotypes for gene: HSPB3 were set to ?Neuronopathy, distal hereditary motor, type IIC, 613376