Congenital muscular dystrophy and congenital myopathy

Gene: DNAJB4

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 3:45 p.m. | Last Modified: 2 May 2024, 3:45 p.m.

Panel Version: 0.229

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Green List (high evidence)

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: Literature

Created: 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