Hereditary neuropathy or pain disorder
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
gene: MED25 was added gene: MED25 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 19290556 Phenotypes for gene: MED25 were set to Charcot Marie Tooth disease, type 2B2, 605589