Hereditary neuropathy
Gene: FGD4
Multiple C5s in Bristol. Also well established from looking at HGMD. PMID: 15744041 - original paper mapping locus through linkage in 2 consanguineous families. PMID: 17564959 - identified the mutations from the original paperCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth, Type 4 ; Charcot Marie Tooth disease, type 4H, 609311
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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Added phenotypes Charcot Marie Tooth disease, type 4H, 609311; Charcot-Marie-Tooth, Type 4 for gene: FGD4 Publications for gene FGD4 were changed from to 17564959; 15744041
Source South West GLH was added to FGD4.
Source NHS GMS was added to FGD4.
Source London North GLH was added to FGD4. 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 FGD4 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FGD4 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FGD4 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FGD4 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FGD4 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FGD4 was changed to BIALLELIC, autosomal or pseudoautosomal
FGD4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene FGD4 was changed to BIALLELIC, autosomal or pseudoautosomal
FGD4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene FGD4 was changed to BIALLELIC, autosomal or pseudoautosomal
FGD4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene FGD4 was changed to BIALLELIC, autosomal or pseudoautosomal
FGD4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
FGD4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory