Familial dysautonomia
Gene: NTRK1

NTRK1 (neurotrophic receptor tyrosine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000198400
EnsemblGeneIds (GRCh37): ENSG00000198400
OMIM: 191315, Gene2Phenotype
NTRK1 is in 9 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)

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 and G2P / DD. Numerous variants reported.
Created: 26 Aug 2016, 12:17 p.m.

Comment on phenotypes: Also associated with Medullary thyroid carcinoma, familial 155240 (monoallelic)
Created: 26 Aug 2016, 12:15 p.m.

Created: 26 Aug 2016, 12:17 p.m.

Panel version: 0.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory
UKGTN

Phenotypes

Insensitivity to pain, congenital, with anhidrosis 256800

OMIM

191315

Clinvar variants

Variants in NTRK1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

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