Louise Daugherty edited their review of gene: DNAJB2: Added comment: 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.; Changed rating: GREEN
Louise Daugherty commented on gene: DNAJB2: 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
Louise Daugherty Added comment: 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/.
Louise Daugherty commented on gene: DNAJB2: 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.
Louise Daugherty commented on gene: DNAJB2: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Louise Daugherty 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.