Hereditary neuropathy or pain disorder
Gene: PMP22EnsemblGeneIds (GRCh38): ENSG00000109099
EnsemblGeneIds (GRCh37): ENSG00000109099
OMIM: 601097, Gene2Phenotype
PMP22 is in 7 panels
8 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
Multiple C5s in Bristol. Also well established from looking at HGMDCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot Marie Tooth disease, type 1A, 118220; Dejerine Sottas disease, 145900; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
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)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
Ellen McDonagh (Genomics England Curator)
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:09 p.m.
Is on the Charcot-Marie- Tooth disease type 1 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- Dejerine Sottas disease, 145900
- Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800
- Neuropathy, recurrent, with pressure palsies, 162500
- Charcot Marie Tooth disease, type 1A, 118220
- Neuropathy, inflammatory demyelinating, 139393
- OMIM
- 601097
- Clinvar variants
- Variants in PMP22
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PMP22 was added gene: PMP22 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PMP22 were set to Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1A, 118220; Neuropathy, inflammatory demyelinating, 139393