Hereditary neuropathy or pain disorder
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
gene: NGF was added gene: NGF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NGF were set to 14976160; 1317267 Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary Sensory and Autonomic Neuropathy, Type V