Congenital muscular dystrophy and congenital myopathy
Gene: DNAJB6EnsemblGeneIds (GRCh38): ENSG00000105993
EnsemblGeneIds (GRCh37): ENSG00000105993
OMIM: 611332, Gene2Phenotype
DNAJB6 is in 4 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myofibrillar Myopathy, Dominant
Helen Brittain (Genomics England Curator)
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
-
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: DNAJB6 was added gene: DNAJB6 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red 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, autosomal dominant 1, OMIM:603511 Penetrance for gene: DNAJB6 were set to Complete