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  2. Hypertrophic cardiomyopathy_HCM
  3. DNAJB4
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Hypertrophic cardiomyopathy_HCM

Gene: DNAJB4

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

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Red List (low 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.

Only one had HCM.

Functional studies including mouse model.
Sources: Literature
Created: 3 Nov 2022, 4:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, MONDO:0005336, DNAJB4-related

Publications

Created: 3 Nov 2022, 4:15 a.m.

Panel version: 0.167

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Myopathy, MONDO:0005336, DNAJB4-related
OMIM
611327
Clinvar variants
Variants in DNAJB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb4 has been classified as Red List (Low Evidence).

3 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb4 has been classified as Red List (Low 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 Hypertrophic cardiomyopathy_HCM. 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 RED