Hereditary neuropathy
Gene: PLEKHG5
Bristol - no pathogenic or likely pathogenic variants out of approx.1900 patients tested. PMID: 23844677 - single proband with RI-CMT compound heterozygous variants. Some weak evidence that variant impact on NF-_B pathway. PMID:17564964 - five affected members of a Malian family with a homozygous mutationCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
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.
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Sourced from OMIM.Created: 3 May 2016, 4:33 p.m.
Added phenotypes Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 for gene: PLEKHG5 Publications for gene PLEKHG5 were changed from to 23844677; 17564964
Source South West GLH was added to PLEKHG5.
Source NHS GMS was added to PLEKHG5.
Source London North GLH was added to PLEKHG5. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PLEKHG5 was changed to BIALLELIC, autosomal or pseudoautosomal
PLEKHG5 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
PLEKHG5 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
PLEKHG5 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
PLEKHG5 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory