Pain syndromes
Gene: NGF
Marked as green after internal discussionCreated: 18 Jul 2017, 9:52 a.m.
loss of deep pain and temperature perception. Two families described to dateCreated: 29 Jun 2017, 9:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type V 608654
Comment on phenotypes: reformatted phenotype listingCreated: 19 Sep 2017, 11:34 a.m.
Comment on list classification: changed from Amber to Green after review with clinical teamCreated: 18 Jul 2017, 11:19 a.m.
more than five unrelated cases but only two families reported. Amber status but could be confirmed green once review our four main sources. Check with clinical teamCreated: 9 Jul 2017, 6:27 p.m.
Comment on list classification: To be reviewed by clinical team regarding the pertinence of this geneCreated: 9 Jul 2017, 5:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type V; 608654; Congenital sensory neuropathy with selective loss of small myelinated fibers
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for NGF were set to Hereditary sensory neuropathy type V;HSAN 5; Neuropathy, hereditary sensory and autonomic, type V, 608654; Congenital sensory neuropathy with selective loss of small myelinated fibers
Phenotypes for NGF were set to Hereditary sensory neuropathy type V (HSAN 5); Neuropathy, hereditary sensory and autonomic, type V, 608654; Congenital sensory neuropathy with selective loss of small myelinated fibers
This gene has been classified as Green List (High Evidence).
NGF was added to Pain syndromespanel. Sources: UKGTN,Emory Genetics Laboratory
Phenotypes for NGF were set to Hereditary sensory neuropathy type V (HSAN 5);Neuropathy, hereditary sensory and autonomic, type V; 608654; Congenital sensory neuropathy with selective loss of small myelinated fibers
This gene has been classified as Amber List (Moderate Evidence).
NGF was created by BRIDGE
NGF was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene