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  3. HSPB8
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: HSPB8

Green List (high evidence)
HSPB8 (heat shock protein family B (small) member 8)
EnsemblGeneIds (GRCh38): ENSG00000152137
EnsemblGeneIds (GRCh37): ENSG00000152137
OMIM: 608014, Gene2Phenotype
HSPB8 is in 5 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 4 reported unrelated families with distal myopathy and a supporting mouse model. Toxic gain of function is the mechanism of disease.
Sources: Literature
Created: 7 Jun 2023, 5:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773

Publications

Mode of pathogenicity
Other

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

Created: 7 Jun 2023, 5:09 a.m.

Panel version: 1.7

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Families reported with both myopathy and neuropathy.
Created: 17 Jun 2020, 8:07 a.m. | Last Modified: 17 Jun 2020, 8:07 a.m.
Panel Version: 0.3094

Phenotypes
Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078; Distal myopathy; Vacuolar myopathy; Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673

Publications

Created: 17 Jun 2020, 8:07 a.m.
Last Modified: 17 Jun 2020, 8:07 a.m.
Panel version: 1.41

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078
  • autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773
OMIM
608014
Clinvar variants
Variants in HSPB8
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

10 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HSPB8 were changed from autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 to Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078; autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773

7 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hspb8 has been classified as Green List (High Evidence).

7 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hspb8 has been classified as Green List (High Evidence).

7 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HSPB8 was added gene: HSPB8 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPB8 were set to 32165108; 26718575; 31403083; 28780615 Phenotypes for gene: HSPB8 were set to autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 Mode of pathogenicity for gene: HSPB8 was set to Other Review for gene: HSPB8 was set to GREEN gene: HSPB8 was marked as current diagnostic