Hereditary neuropathy or pain disorder

Gene: DNAJB2

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

• 26752306
• 25274842

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

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.

Green List (high evidence)

I don't know

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

• 26752306
• 25274842
• 22522442

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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.