Muscular dystrophy and myopathy_Paediatric
Gene: DNAJB4EnsemblGeneIds (GRCh38): ENSG00000162616
EnsemblGeneIds (GRCh37): ENSG00000162616
OMIM: 611327, Gene2Phenotype
DNAJB4 is in 4 panels
3 reviews
Bryony Thompson (Royal Melbourne Hospital)
PMID: 36264506 - 4 individuals from 3 unrelated families with myopathy with early respiratory failure with homozygous variants (c.856A > T; p.Lys286Ter, c.74G > A; p.Arg25Gln, c.785 T > C; p.Leu262Ser). DNAJB4 knockout mice had muscle weakness and fibre atrophy with prominent diaphragm involvement and kyphosis, muscle and myotubes had myofibrillar disorganization and accumulated Z-disc proteins and protein chaperones.Created: 9 May 2023, 11:38 p.m. | Last Modified: 9 May 2023, 11:38 p.m.
Panel Version: 0.133
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, MONDO:0005336, DNAJB4-related
Publications
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 36264506
4 individuals from unrelated families with congenital myopathy with variable age of onset
Sources: OtherCreated: 5 May 2023, 12:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Myopathy 21 with early respiratory failure (MIM#620326; MONDO:005336)
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
4 individuals from 3 unrelated families with bi-allelic LoF/missense variants in this gene, and either childhood/adult onset of muscle weakness and respiratory failure. One had HCM.
Functional studies including mouse model.
Sources: LiteratureCreated: 3 Nov 2022, 3:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 21 with early respiratory failure, MIM# 620326
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Literature
- Phenotypes
-
- Congenital Myopathy 21 with early respiratory failure (MIM#620326
- MONDO:005336)
- OMIM
- 611327
- Clinvar variants
- Variants in DNAJB4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dnajb4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dnajb4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: DNAJB4 was added gene: DNAJB4 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB4 were set to 36264506 Phenotypes for gene: DNAJB4 were set to Congenital Myopathy 21 with early respiratory failure (MIM#620326; MONDO:005336) Review for gene: DNAJB4 was set to GREEN