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Hereditary Neuropathy_CMT - isolated

Gene: HSPB1

Green List (high evidence)
HSPB1 (heat shock protein family B (small) member 1)
EnsemblGeneIds (GRCh38): ENSG00000106211
EnsemblGeneIds (GRCh37): ENSG00000106211
OMIM: 602195, Gene2Phenotype
HSPB1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, functional data. Different patterns of neuropathy described.
Created: 4 May 2021, 5:59 a.m. | Last Modified: 4 May 2021, 5:59 a.m.
Panel Version: 0.106

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2F, MIM# 606595; Neuronopathy, distal hereditary motor, type IIB, MIM# 608634

Publications

Created: 4 May 2021, 5:59 a.m.
Last Modified: 4 May 2021, 5:59 a.m.
Panel version: 0.106

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, axonal, type 2F, 606595
  • MONDO:0011687
  • HMSN, dHMN/dSMA
  • Neuropathy, distal hereditary motor, type IIB, 608634
  • MONDO:0012080
OMIM
602195
Clinvar variants
Variants in HSPB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HSPB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hspb1 has been classified as Green List (High Evidence).

4 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HSPB1 were changed from Charcot Marie Tooth disease, axonal, type 2F, 606595; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634 to Charcot Marie Tooth disease, axonal, type 2F, 606595; MONDO:0011687; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634; MONDO:0012080

4 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HSPB1 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HSPB1 was added gene: HSPB1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HSPB1 were set to Charcot Marie Tooth disease, axonal, type 2F, 606595; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634