Hereditary neuropathy
Gene: FIG4
Multiple C5s in Bristol. Also well established from looking at HGMD. First paper PMID:17572665 - mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Multiple papers since and one particularly common variant p.I41TCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 4J, 611228; Amyotrophic lateral sclerosis 11, 612577; Yunis Varon syndrome, 216340
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, 12:56 p.m.
Added phenotypes Yunis Varon syndrome, 216340; Amyotrophic lateral sclerosis 11, 612577; Charcot Marie Tooth disease, type 4J, 611228 for gene: FIG4 Publications for gene FIG4 were changed from to 17572665
Source South West GLH was added to FIG4.
Source NHS GMS was added to FIG4.
Source London North GLH was added to FIG4. 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 FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
FIG4 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 FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
FIG4 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 FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
FIG4 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 FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal
FIG4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
FIG4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory