Familial dysautonomia

Gene: NGF

Green List (high evidence)

NGF (nerve growth factor)
EnsemblGeneIds (GRCh38): ENSG00000134259
EnsemblGeneIds (GRCh37): ENSG00000134259
OMIM: 162030, Gene2Phenotype
NGF is in 6 panels

2 reviews

Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)

Green List (high evidence)

these patients do not have anhidrosis, should be corrected in phenotype
Created: 8 Dec 2016, 1:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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 variants
Created: 26 Aug 2016, 12:07 p.m.
Comment on publications: Functional studies PMID 19038341
Created: 26 Aug 2016, 11:58 a.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type V 608654
OMIM
162030
Clinvar variants
Variants in NGF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Dec 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for NGF were set to Neuropathy, hereditary sensory and autonomic, type V 608654

1 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.

17 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

26 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NGF were set to 14976160; 20978020; 23176824; 19038341

26 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NGF were set to 14976160; 23176824; 19038341

26 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NGF were set to : 14976160; 23176824; 19038341

26 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NGF were set to 23176824; 19038341

26 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

NGF was added to Familial dysautonomiapanel. Sources: Emory Genetics Laboratory

26 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

NGF was added to Familial dysautonomiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

26 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NGF were set to 23176824

26 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NGF were set to Insensitivity to pain with Anihidrosis; Neuropathy, hereditary sensory and autonomic, type V 608654

25 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

NGF was created by oniblock

25 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

NGF was added to Familial dysautonomiapanel. Sources: UKGTN