Muscular dystrophy and myopathy_Paediatric
Gene: DNAJB6

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

1 review

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

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Expert Review Green

OMIM

611332

Clinvar variants

Variants in DNAJB6

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAJB6 was added gene: DNAJB6 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DNAJB6 was set to Unknown

Muscular dystrophy and myopathy_Paediatric Gene: DNAJB6