Hereditary neuropathy
Gene: PMP22PMID: 32356557 - Pantera et al 2020 - investigate the effect of a distal super-enhancer domain on the expression of PMP22. Loss of the super-enhancer in mice reduces Pmp22 expression throughout development and into adulthood. The mice display tomacula formed by excessive myelin folding, which is a pathological hallmark of HNPP (hereditary neuropathy with liability to pressure palsies). The findings demonstrate a mechanism by which smaller copy number variations, not including the Pmp22 gene, are sufficient to reduce gene expression and phenocopy a peripheral neuropathy caused by the HNPP-associated deletion encompassing PMP22.Created: 30 Jul 2020, 2:16 p.m. | Last Modified: 30 Jul 2020, 2:16 p.m.
Panel Version: 1.374
Publications
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
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.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
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.
Added phenotypes Neuropathy, inflammatory demyelinating, 139393; Charcot Marie Tooth disease, type 1A, 118220; Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800; Dejerine Sottas disease, 145900; Neuropathy, recurrent, with pressure palsies, 162500 for gene: PMP22
Source South West GLH was added to PMP22.
Source NHS GMS was added to PMP22.
Source London North GLH was added to PMP22. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
PMP22 was added to Charcot-Marie-Tooth diseasepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene PMP22 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PMP22 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PMP22 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PMP22 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PMP22 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PMP22 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PMP22 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene PMP22 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PMP22 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene PMP22 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PMP22 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene PMP22 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PMP22 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
PMP22 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory