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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: DNAJB6

Green List (high evidence)
DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6)
EnsemblGeneIds (GRCh38): ENSG00000105993
EnsemblGeneIds (GRCh37): ENSG00000105993
OMIM: 611332, Gene2Phenotype
DNAJB6 is in 5 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>3 families/variants previously reported. Variable age of onset and severity.

PMID: 26847086: 15 patients from 6 unrelated Finnish families reported with the same missense variant. Adult onset.

PMID: 26338452: 2 severe early-onset limb-girdle muscular dystrophy families reported with 2 different variants.

PMID: 24170373: 1 family reported. Childhood onset and normal CK levels.
Created: 9 May 2022, 3:59 a.m. | Last Modified: 9 May 2022, 3:59 a.m.
Panel Version: 0.13962

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511

Publications

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

Created: 9 May 2022, 3:59 a.m.
Last Modified: 9 May 2022, 3:59 a.m.
Panel version: Imported from Mendeliome panel version 0.13962

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>3 families/variants previously reported. Variable age of onset and severity.

PMID: 26847086: 15 patients from 6 unrelated Finnish families reported with the same missense variant. Adult onset.

PMID: 26338452: 2 severe early-onset limb-girdle muscular dystrophy families reported with 2 different variants.

PMID: 24170373: 1 family reported. Childhood onset and normal CK levels.
Created: 17 Jun 2020, 3:26 a.m. | Last Modified: 17 Jun 2020, 3:26 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Muscular dystrophy, limb-girdle, autosomal dominant 1 (MIM#603511)

Publications

Created: 17 Jun 2020, 3:26 a.m.
Last Modified: 17 Jun 2020, 3:26 a.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type 1E, 603511
OMIM
611332
Clinvar variants
Variants in DNAJB6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb6 has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAJB6 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: DNAJB6 was added gene: DNAJB6 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb-girdle, type 1E, 603511