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Hereditary neuropathy NOT PMP22 copy number

Gene: PMP2

Green List (high evidence)

PMP2 (peripheral myelin protein 2)
EnsemblGeneIds (GRCh38): ENSG00000147588
EnsemblGeneIds (GRCh37): ENSG00000147588
OMIM: 170715, Gene2Phenotype
PMP2 is in 2 panels

3 reviews

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

multiple families
Created: 10 May 2019, 1:04 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 / New evidence - green
Created: 6 Dec 2019, 2:35 p.m. | Last Modified: 6 Dec 2019, 2:35 p.m.
Panel Version: 0.37
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, 1:21 p.m. | Last Modified: 6 Dec 2019, 1:21 p.m.
Panel Version: 0.16
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.
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.

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

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
OMIM
170715
Clinvar variants
Variants in PMP2
Penetrance
None
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: pmp2 has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PMP2 was added gene: PMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PMP2 were set to Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279