Familial dysautonomia
Gene: NGF

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

Created: 8 Dec 2016, 1:18 p.m.

Panel version: 1.2

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

20978020

Created: 26 Aug 2016, 12:07 p.m.

Panel version: 0.13

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