Hereditary neuropathy
Gene: NEFL
Multiple C5s in Bristol including variants segregating with disease. Also well established from looking at HGMD. PMID10841809 - original paper of large Russian family with CMT2E (3 generations), PMID: 23618875 - mouse model of above variant show to effect neurofilament assemblyCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 2E, 607684; Charcot Marie Tooth disease, type 1F, 607734; Charcot-Marie-Tooth disease, dominant intermediate G, 617882
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Is on the Charcot-Marie- Tooth disease type 2 / 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, 1:08 p.m.
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 2E, 607684; Charcot Marie Tooth disease, type 1F, 607734; Charcot-Marie-Tooth disease, dominant intermediate G, 617882 for gene: NEFL Publications for gene NEFL were changed from to 23618875; 10841809
Source South West GLH was added to NEFL.
Source NHS GMS was added to NEFL.
Source London North GLH was added to NEFL. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NEFL was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene NEFL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene NEFL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene NEFL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene NEFL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene NEFL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene NEFL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NEFL was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene NEFL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NEFL was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene NEFL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NEFL was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene NEFL was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NEFL was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
NEFL was added to Charcot-Marie-Tooth diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory