Hereditary neuropathy
Gene: NGF
Bristol - no pathogenic or likely pathogenic variants out of approx. 1900 patients tested. One predominant mutation on HGMD, but widely functionally characterised. PMID: 1317267 - Knock-out mice modelfor NGF showing that homozygous mice with disruptions in NGF exhibit deficit in the nociceptive function. PMID: 14976160 - large multi-generational family suffering from loss of pain perception but with most other neurological functions intact.Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Sensory and Autonomic Neuropathy, Type V ; Neuropathy, hereditary sensory and autonomic, type V, 608654
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
Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type V; Neuropathy, hereditary sensory and autonomic, type V, 608654 for gene: NGF Publications for gene NGF were changed from to 1317267; 14976160
Source South West GLH was added to NGF.
Source NHS GMS was added to NGF.
Source London North GLH was added to NGF. 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 NGF was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NGF was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NGF was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NGF was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NGF was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene NGF was changed to BIALLELIC, autosomal or pseudoautosomal
NGF was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene NGF was changed to BIALLELIC, autosomal or pseudoautosomal
NGF was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene NGF was changed to BIALLELIC, autosomal or pseudoautosomal
NGF was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene NGF was changed to BIALLELIC, autosomal or pseudoautosomal
NGF was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
NGF was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN