Hereditary neuropathy
Gene: HSPB3EnsemblGeneIds (GRCh38): ENSG00000169271
EnsemblGeneIds (GRCh37): ENSG00000169271
OMIM: 604624, Gene2Phenotype
HSPB3 is in 3 panels
7 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
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)
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)
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)
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)
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)
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
- NHS GMS
- London North GLH
- Expert Review Red
- UKGTN
- Expert list
- Phenotypes
-
- ?Neuronopathy, distal hereditary motor, type IIC, 613376
- OMIM
- 604624
- Clinvar variants
- Variants in HSPB3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes ?Neuronopathy, distal hereditary motor, type IIC, 613376 for gene: HSPB3 Publications for gene HSPB3 were changed from PMID: 20142617 missense variant reported in 2 siblings with an asymmetric axonal motor neuropathy. to 27549087; 20142617
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to HSPB3.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HSPB3.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to HSPB3.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HSPB3 were set to PMID: 20142617 missense variant reported in 2 siblings with an asymmetric axonal motor neuropathy.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HSPB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)HSPB3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)HSPB3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN