Hereditary neuropathy
Gene: MPZ
Multiple C5s in Bristol. Also well established from looking at HGMD - mixed phenotypesCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot Marie Tooth disease, type 1B, 118200; Dejerine Sottas disease, 145900; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, type 2I, 607677; Charcot Marie Tooth disease, dominant intermediate D, 607791
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
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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, 1:08 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, 12:58 p.m.
Added phenotypes Charcot Marie Tooth disease, type 2I, 607677; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2J, 607736; Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, dominant intermediate D, 607791; Dejerine Sottas disease, 145900; Neuropathy, congenital hypomyelinating, 605253 for gene: MPZ
Source South West GLH was added to MPZ.
Source NHS GMS was added to MPZ.
Source London North GLH was added to MPZ. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
MPZ was added to Charcot-Marie-Tooth diseasepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene MPZ was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene MPZ was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene MPZ was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene MPZ was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene MPZ was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene MPZ was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MPZ was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene MPZ was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MPZ was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene MPZ was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MPZ was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene MPZ was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MPZ was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
MPZ was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory