Hereditary neuropathy
Gene: NDRG1
One particularly common variant p.Arg148 reported multiple times in literature and in 3 probands in Bristol. PMID:28776325 - identified possible role of NDRG1 in intracellular protein trafficking. 12 entries in HGMD for the common variant p.Arg148, original ref is PMID: 10831399Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 4D, 601455
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, 12:59 p.m.
Added phenotypes Charcot Marie Tooth disease, type 4D, 601455 for gene: NDRG1 Publications for gene NDRG1 were changed from to 28776325; 10831399
Source South West GLH was added to NDRG1.
Source NHS GMS was added to NDRG1.
Source London North GLH was added to NDRG1. 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 NDRG1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NDRG1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NDRG1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NDRG1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NDRG1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NDRG1 was changed to BIALLELIC, autosomal or pseudoautosomal
NDRG1 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 NDRG1 was changed to BIALLELIC, autosomal or pseudoautosomal
NDRG1 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 NDRG1 was changed to BIALLELIC, autosomal or pseudoautosomal
NDRG1 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 NDRG1 was changed to BIALLELIC, autosomal or pseudoautosomal
NDRG1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
NDRG1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory