Familial dysautonomia
Gene: NGF
these patients do not have anhidrosis, should be corrected in phenotypeCreated: 8 Dec 2016, 1:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Associated with phenotype in OMIM, not in G2P / DD. Two homozygous variants reported in two different populations by different groups. Functional studies presented for both variantsCreated: 26 Aug 2016, 12:07 p.m.
Comment on publications: Functional studies PMID 19038341Created: 26 Aug 2016, 11:58 a.m.
Publications
Phenotypes for NGF were set to Neuropathy, hereditary sensory and autonomic, type V 608654
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
This gene has been classified as Green List (High Evidence).
Publications for NGF were set to 14976160; 20978020; 23176824; 19038341
Publications for NGF were set to 14976160; 23176824; 19038341
Publications for NGF were set to : 14976160; 23176824; 19038341
Publications for NGF were set to 23176824; 19038341
NGF was added to Familial dysautonomiapanel. Sources: Emory Genetics Laboratory
NGF was added to Familial dysautonomiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Publications for NGF were set to 23176824
Phenotypes for NGF were set to Insensitivity to pain with Anihidrosis; Neuropathy, hereditary sensory and autonomic, type V 608654
NGF was created by oniblock
NGF was added to Familial dysautonomiapanel. Sources: UKGTN