Hereditary neuropathy
Gene: MTMR2
One patient in Bristol reported as compound heterozygous for possibly pathogenic variants, but gene is rarer. PMID: 10802647 - identified 5 different mutations in several pedigrees (apparantly segregating but data not in report). PMID: 28509084 - recent paper where variants identified by WESCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4B1, 601382
Publications
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.
Artefacts in variant and CNV calling likely due to polymorphic processeed pseudogene (PMC3663115)Created: 29 Apr 2019, 9:20 a.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
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 4B1, 601382 for gene: MTMR2 Publications for gene MTMR2 were changed from to 28509084; 10802647
Source South West GLH was added to MTMR2.
Source NHS GMS was added to MTMR2.
Source London North GLH was added to MTMR2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MTMR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MTMR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MTMR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MTMR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MTMR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MTMR2 was changed to BIALLELIC, autosomal or pseudoautosomal
MTMR2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene MTMR2 was changed to BIALLELIC, autosomal or pseudoautosomal
MTMR2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene MTMR2 was changed to BIALLELIC, autosomal or pseudoautosomal
MTMR2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene MTMR2 was changed to BIALLELIC, autosomal or pseudoautosomal
MTMR2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory
MTMR2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory