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Hereditary neuropathy NOT PMP22 copy number

Gene: DNAJC3

Amber List (moderate evidence)

DNAJC3 (DnaJ heat shock protein family (Hsp40) member C3)
EnsemblGeneIds (GRCh38): ENSG00000102580
EnsemblGeneIds (GRCh37): ENSG00000102580
OMIM: 601184, Gene2Phenotype
DNAJC3 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Broader phenotype - ataxia & hearing loss - only 1 family in OMIM - more evidence? Complex disorder not pure neuropathy
Created: 6 Dec 2019, 4:24 p.m. | Last Modified: 6 Dec 2019, 4:24 p.m.
Panel Version: 0.49
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, 4:23 p.m. | Last Modified: 6 Dec 2019, 4:23 p.m.
Panel Version: 0.49
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
OMIM
601184
Clinvar variants
Variants in DNAJC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dnajc3 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: DNAJC3 was added gene: DNAJC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC3 were set to 25466870 Phenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus; Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192