Pain syndromes
Gene: NGFEnsemblGeneIds (GRCh38): ENSG00000134259
EnsemblGeneIds (GRCh37): ENSG00000134259
OMIM: 162030, Gene2Phenotype
NGF is in 6 panels
3 reviews
Arianna Tucci (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- 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
- OMIM
- 162030
- Clinvar variants
- Variants in NGF
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Louise Daugherty (Genomics England Curator)NGF was added to Pain syndromespanel. Sources: UKGTN,Emory Genetics Laboratory
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
BRIDGE consortium (NIHRBR-RD)NGF was created by BRIDGE
Added New Source
BRIDGE consortium (NIHRBR-RD)NGF was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene