Distal myopathies
Gene: DNAJB6
DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6)
EnsemblGeneIds (GRCh38): ENSG00000105993
EnsemblGeneIds (GRCh37): ENSG00000105993
OMIM: 611332, Gene2Phenotype
DNAJB6 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000105993
EnsemblGeneIds (GRCh37): ENSG00000105993
OMIM: 611332, Gene2Phenotype
DNAJB6 is in 4 panels
1 review
Arianna Tucci (Genomics England Curator)
Mutations in this gene cause LGMD1E - it can present with a distal involvement (as per PMID 22334415)Created: 1 Feb 2017, 10:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
limb-girdle muscular dystrophy type 1E, 603511
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- limb-girdle muscular dystrophy type 1E, 603511
- OMIM
- 611332
- Clinvar variants
- Variants in DNAJB6
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
20 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Feb 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)DNAJB6 was added to Distal myopathiespanel. Sources: Expert Review
1 Feb 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)DNAJB6 was created by arianna