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Hereditary neuropathy NOT PMP22 copy number

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 5 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

No more publications on PubMed since 2016. PMID: 26752306 - c.352+1G>A mutation found in two cases. Report that DNAJB2 c.352+1G>A may be a founder event; PMID: 25274842 - HSJ1 (previous symbol for DNAJB2) variants reported in a family with Charcot-Marie-Tooth disease, and another with distal hereditary motor neuropathy.
Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Hereditary Neuropathies

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases (PMID: 28018906) recessive CMT/ HMN.
Created: 6 Dec 2019, 2:27 p.m. | Last Modified: 7 Dec 2019, 1:31 p.m.
Panel Version: 0.91
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 1:18 p.m. | Last Modified: 6 Dec 2019, 1:18 p.m.
Panel Version: 0.10
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

I don't know

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Multiple families now reported with recessive CMT/ HMN. PMIDs added above
Created: 21 Jun 2019, 2:20 p.m. | Last Modified: 21 Jun 2019, 2:20 p.m.
Panel Version: 1.331
Now reported in multiple series form different countries
Created: 9 May 2019, 12:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (Genomics England Curator)

Comment on list classification: Single variant reported to date (c.352+1G>A); await further reports before diagnostic
Created: 8 Jul 2016, 3:54 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • Emory Genetics Laboratory
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Hereditary Neuropathies
OMIM
604139
Clinvar variants
Variants in DNAJB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dnajb2 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DNAJB2 was added gene: DNAJB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB2 were set to 26752306; 25274842 Phenotypes for gene: DNAJB2 were set to Hereditary Neuropathies