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Hereditary Neuropathy_CMT - isolated

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variant originally reported in two sisters with adult-onset neuropathy (PMID: 20142617) , and identified in a subsequent publication reporting on a large cohort (27549087), Arg7Ser, is present in 177 individuals in gnomad and in a homozygote, which is out of keeping for a rare dominant disorder.
Created: 1 Apr 2020, 7:16 a.m. | Last Modified: 1 Apr 2020, 7:16 a.m.
Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuronopathy, distal hereditary motor, type IIC, MIM# 613376

Publications

Created: 1 Apr 2020, 7:16 a.m.
Last Modified: 1 Apr 2020, 7:16 a.m.
Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • ?Neuronopathy, distal hereditary motor, type IIC, 613376
OMIM
604624
Clinvar variants
Variants in HSPB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hspb3 has been classified as Red List (Low Evidence).

1 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HSPB3 were set to

1 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hspb3 has been classified as Red List (Low Evidence).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HSPB3 was added gene: HSPB3 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HSPB3 were set to HMSN, dHMN/dSMA; ?Neuronopathy, distal hereditary motor, type IIC, 613376