Congenital myopathy

Gene: DNAJB6

Red List (low evidence)

DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6)
EnsemblGeneIds (GRCh38): ENSG00000105993
EnsemblGeneIds (GRCh37): ENSG00000105993
OMIM: 611332, Gene2Phenotype
DNAJB6 is in 6 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

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

Phenotypes
Myofibrillar Myopathy, Dominant

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Not a congenital presentation. Onset from mid-childhood to adulthood. More appropriate for a muscular dystrophy-type panel.
Created: 3 Feb 2017, 11:53 a.m.
Not a congenital presentation. Onset from mid-childhood to adulthood. More appropriate for a muscular dystrophy-type panel.
Created: 30 Jan 2017, 3:26 p.m.

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

Phenotypes
Muscular dystrophy, limb-girdle, type 1E 603511

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myofibrillar Myopathy, Dominant
  • Muscular dystrophy, limb-girdle, type 1E 603511
OMIM
611332
Clinvar variants
Variants in DNAJB6
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DNAJB6 were changed from Myofibrillar Myopathy, Dominant to Myofibrillar Myopathy, Dominant; Muscular dystrophy, limb-girdle, type 1E 603511

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DNAJB6 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services