Hereditary neuropathy
Gene: PRX
One patient in Bristol apparently homozygous for frameshift - parents not tested. PMID: 11157804 and PMID: 10848494 - nonsense variant co-segregating with CMT in multiple affectedsCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 4F, 614895; Dejerine Sottas disease, autosomal recessive, 145900
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
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
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, 1 p.m.
Publications for gene: PRX were set to 11157804; 10848494
Phenotypes for gene: PRX were changed from Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895; Dejerine Sottas disease, autosomal recessive, 145900 to Charcot-Marie-Tooth disease, type 4F, OMIM:614895; Dejerine-Sottas disease, OMIM:145900
Added phenotypes Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895 for gene: PRX Publications for gene PRX were changed from to 11157804; 10848494
Source South West GLH was added to PRX.
Source NHS GMS was added to PRX.
Source London North GLH was added to PRX. 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 PRX was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PRX was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PRX was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PRX was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PRX was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PRX was changed to BIALLELIC, autosomal or pseudoautosomal
PRX 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 PRX was changed to BIALLELIC, autosomal or pseudoautosomal
PRX 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 PRX was changed to BIALLELIC, autosomal or pseudoautosomal
PRX 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 PRX was changed to BIALLELIC, autosomal or pseudoautosomal
PRX was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
PRX was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory