Hereditary neuropathy
Gene: EGR2
Multiple C5s in Bristol. PMID: 9537424 - identified heterozygous mutations in the EGR2 gene in a family with autosomal dominant Charcot-Marie-Tooth disease type 1D. Several overlapping phenotypes associated with geneCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth, Type 1 ; Charcot Marie Tooth disease, type 1D, 607678
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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, 12:55 p.m.
Phenotypes for gene: EGR2 were changed from Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1 to Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1
Phenotypes for gene: EGR2 were changed from Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1 ; Charcot-Marie-Tooth, Type 1; others to Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1
Added phenotypes Charcot Marie Tooth disease, type 1D, 607678; Charcot-Marie-Tooth, Type 1 for gene: EGR2 Publications for gene EGR2 were changed from to 9537424
Source South West GLH was added to EGR2.
Source NHS GMS was added to EGR2.
Source London North GLH was added to EGR2. 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 EGR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene EGR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene EGR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene EGR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene EGR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene EGR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EGR2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene EGR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EGR2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene EGR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EGR2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene EGR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EGR2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
EGR2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory