Adult onset neurodegenerative disorder
Gene: DNAJB2

DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2)
EnsemblGeneIds (GRCh38): ENSG00000135924
EnsemblGeneIds (GRCh37): ENSG00000135924
OMIM: 604139, Gene2Phenotype
DNAJB2 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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: 10 Oct 2023, 4:47 p.m. | Last Modified: 10 Oct 2023, 4:47 p.m.

Panel Version: 4.37

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in three unrelated cases (PMID: 22522442, 25274842).
Created: 18 Apr 2023, 9:48 a.m. | Last Modified: 18 Apr 2023, 9:48 a.m.

Panel Version: 4.16

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 18 Apr 2023, 9:46 a.m. | Last Modified: 18 Apr 2023, 9:46 a.m.

Panel Version: 4.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 18 Apr 2023, 9:46 a.m.
Last Modified: 18 Apr 2023, 9:46 a.m.
Panel version: 4.37

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Young adult onset, progressive neurological disorder, phenotype resembles ALS.
Sources: Expert list
Created: 27 Sep 2020, 11:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy, distal, autosomal recessive, 5, 614881

Created: 27 Sep 2020, 11:13 p.m.

Panel version: 2.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Spinal muscular atrophy, distal, autosomal recessive, 5, OMIM:614881
young adult-onset distal hereditary motor neuropathy, MONDO:0013947

OMIM

604139

Clinvar variants

Variants in DNAJB2

Penetrance

None

Publications

Panels with this gene