1. Panels
  2. Congenital myopathy
  3. DNAJB6
STRs in panel
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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 4 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

Created: 6 Mar 2017, 12:14 p.m.

Panel version: 1.0

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

Created: 30 Jan 2017, 3:26 p.m.

Panel version: 0.3

Details

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

History Filter Activity

3 Feb 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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