Hereditary neuropathy
Gene: HSPB3
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
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.
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
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.
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
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
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
Source South West GLH was added to HSPB3.
Source NHS GMS was added to HSPB3.
Source London North GLH was added to HSPB3.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for HSPB3 were set to PMID: 20142617 missense variant reported in 2 siblings with an asymmetric axonal motor neuropathy.
Model of inheritance for gene HSPB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene HSPB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HSPB3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN
HSPB3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN