Congenital myopathy
Gene: DNAJB4EnsemblGeneIds (GRCh38): ENSG00000162616
EnsemblGeneIds (GRCh37): ENSG00000162616
OMIM: 611327, Gene2Phenotype
DNAJB4 is in 2 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 10:39 a.m. | Last Modified: 26 Sep 2024, 10:39 a.m.
Panel Version: 4.42
Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence (three unrelated cases and functional evidence from mouse models) for promoting this gene to GREEN at the next major review.
This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with 'limited' rating.Created: 28 Mar 2023, 5:55 p.m. | Last Modified: 28 Mar 2023, 5:55 p.m.
Panel Version: 4.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Anna Sarkozy (Great Ormond Street Hospital)
biallelic variants in DNAJB4 gene have now been described in three unrelated families, in particular stop gain and missense variants. the phenotype is characterised by axial rigidity and early respiratory failure between the 1st and 4th decade of life. muscle pathology is myopathic with protein inclusions and occasional rimmed vacuoles.
Sources: LiteratureCreated: 27 Mar 2023, 9:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy with early respiratory failure
Publications
- PMID: 36264506
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- congenital myopathy with early respiratory failure
- OMIM
- 611327
- Clinvar variants
- Variants in DNAJB4
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag currently-not-available-via-GLH-non-WGS-testing was removed from gene: DNAJB4.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: DNAJB4.
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: DNAJB4. Tag Q1_23_NHS_review was removed from gene: DNAJB4.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to DNAJB4. Source NHS GMS was added to DNAJB4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_NHS_review tag was added to gene: DNAJB4.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: DNAJB4.
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: DNAJB4 were set to PMID: 36264506
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: dnajb4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Anna Sarkozy (Great Ormond Street Hospital)gene: DNAJB4 was added gene: DNAJB4 was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB4 were set to PMID: 36264506 Phenotypes for gene: DNAJB4 were set to congenital myopathy with early respiratory failure Penetrance for gene: DNAJB4 were set to unknown Mode of pathogenicity for gene: DNAJB4 was set to Other Review for gene: DNAJB4 was set to GREEN