Hereditary neuropathy
Gene: MED25
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.
only seen the single mutation that has a population frequency of 0.39%. Several cases are homozygous. PMID: 19290556 - variant in this report has a population frequency of 0.39%Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 2B2, 605589
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Gene was originally green, but demoted due to conflicting reviews and lack of evidence in OMIM and from a literature search.Created: 3 May 2016, 4:29 p.m.
Single family described, poor functional data and no additional families. Original geneitc finding has now been withdrawnCreated: 9 Dec 2015, 8:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Single family described, poor functional data and no additional familiesCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot Marie Tooth disease, type 2B2, 605589 for gene: MED25 Publications for gene MED25 were changed from to 19290556
Source NHS GMS was added to MED25.
Source South West GLH was added to MED25.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene MED25 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MED25 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MED25 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MED25 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MED25 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MED25 was changed to BIALLELIC, autosomal or pseudoautosomal
MED25 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene MED25 was changed to BIALLELIC, autosomal or pseudoautosomal
MED25 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene MED25 was changed to BIALLELIC, autosomal or pseudoautosomal
MED25 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene MED25 was changed to BIALLELIC, autosomal or pseudoautosomal
MED25 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
MED25 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory