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Motor Neurone Disease

Gene: DNAJB2

Green List (high evidence)
DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2)
EnsemblGeneIds (GRCh38): ENSG00000135924
EnsemblGeneIds (GRCh37): ENSG00000135924
OMIM: 604139, Gene2Phenotype
DNAJB2 is in 3 panels

3 reviews

Lauren Rogers (Victorian Clinical Genetics Services)

Phenotypes
Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)

Created: 19 Oct 2023, 11:46 p.m.
Last Modified: 19 Oct 2023, 11:46 p.m.
Panel version: 1.7

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Young adult onset.
Created: 27 Sep 2020, 11:08 p.m. | Last Modified: 27 Sep 2020, 11:08 p.m.
Panel Version: 0.58
Created: 27 Sep 2020, 11:08 p.m.
Last Modified: 27 Sep 2020, 11:08 p.m.
Panel version: 0.58

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Phenotype resembles ALS
Sources: Expert list
Created: 15 Jan 2020, 3:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 15 Jan 2020, 3:49 a.m.

Panel version: Imported from Amyotrophic Lateral Sclerosis and Motor Neuron Disease panel version 0.44

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)
OMIM
604139
Clinvar variants
Variants in DNAJB2
Penetrance
None
Panels with this gene

History Filter Activity

19 Oct 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: DNAJB2 were changed from Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)

28 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajb2 has been classified as Green List (High Evidence).

28 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAJB2 were changed from to Spinal muscular atrophy, distal, autosomal recessive, 5, 614881

28 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNAJB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAJB2 was added gene: DNAJB2 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: DNAJB2 was set to Unknown