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Mendeliome

Gene: DNAJB4

Green List (high evidence)

DNAJB4 (DnaJ heat shock protein family (Hsp40) member B4)
EnsemblGeneIds (GRCh38): ENSG00000162616
EnsemblGeneIds (GRCh37): ENSG00000162616
OMIM: 611327, Gene2Phenotype
DNAJB4 is in 4 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 21 with early respiratory failure, MIM# 620326

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single family with distal myopathy segregating a heterozygous missense variant (c.270T>A p.F90L) and a supporting knock-in mouse model. Also, in vitro functional assays suggest a toxic gain of function mechanism of disease for p.F90L. This mechanism of disease differs to the reported recessive myopathy associated with this gene.
Created: 14 Apr 2023, 5:18 a.m. | Last Modified: 14 Apr 2023, 5:18 a.m.
Panel Version: 1.807

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
distal myopathy MONDO:0018949

Publications

Mode of pathogenicity
Other

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

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: Literature
Created: 3 Nov 2022, 4:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, MONDO:0005336, DNAJB4-related

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital myopathy 21 with early respiratory failure, MIM# 620326
  • distal myopathy MONDO:0018949
OMIM
611327
Clinvar variants
Variants in DNAJB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAJB4 were changed from Congenital myopathy 21 with early respiratory failure, MIM# 620326 to Congenital myopathy 21 with early respiratory failure, MIM# 620326; distal myopathy MONDO:0018949

20 Apr 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAJB4 were set to PMID: 36264506

20 Apr 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNAJB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Apr 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAJB4 were changed from Myopathy, MONDO:0005336, DNAJB4-related to Congenital myopathy 21 with early respiratory failure, MIM# 620326

3 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb4 has been classified as Green List (High Evidence).

3 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb4 has been classified as Green List (High Evidence).

3 Nov 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Karina Sandoval (Victorian Clinical Genetics Services)

gene: DNAJB4 was added gene: DNAJB4 was added to Mendeliome. 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 Myopathy, MONDO:0005336, DNAJB4-related Review for gene: DNAJB4 was set to GREEN