Genes in panel

Hereditary neuropathy

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 4 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)

Green List (high evidence)

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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 as Amber due to single reported variant in 2016, Natalie says no publications since 2016 but Alex says now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases
Created: 6 Dec 2019, 2:28 p.m. | Last Modified: 6 Dec 2019, 2:28 p.m.
Panel Version: 1.351
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, 2:27 p.m. | Last Modified: 6 Dec 2019, 2:27 p.m.
Panel Version: 1.351
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
  • NHS GMS
  • London North GLH
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Hereditary Neuropathies
OMIM
604139
Clinvar variants
Variants in DNAJB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 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).

5 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hereditary Neuropathies for gene: DNAJB2

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DNAJB2 were set to 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.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to DNAJB2.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DNAJB2.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to DNAJB2.

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DNAJB2 were set to 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.

4 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DNAJB2 were set to PMID: 26752306 - c.352+1G>A mutation found in two cases, and novel low frequency variants found in 12 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.

4 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DNAJB2 were set to PMID: 26752306 - c.352+1G>A mutation found in two cases, and novel low frequency variants found in 12 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.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DNAJB2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Emory Genetics Laboratory

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DNAJB2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Emory Genetics Laboratory