Multiple endocrine tumours
Gene: NTRK1

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

4 reviews

Sian Ellard (University of Exeter Medical School)

Red List (low evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Autosomal dominant mode of inheritance sourced from OMIM.
Created: 2 Feb 2016, 5:26 p.m.

Comment on list classification: Gene should remain red due to lack of evidence for implication in familial Medullary thyroid carcinoma.
Created: 2 Feb 2016, 5:25 p.m.

Created: 2 Feb 2016, 5:25 p.m.

Panel version: 1.1

Louise IZATT (GSTT Clinical Genetics Service)

Red List (low evidence)

No convincing data on inheritance as variants only described in sporadic MTC.
Created: 16 Oct 2015, 1:11 p.m.

Mode of inheritance
Unknown

Publications

10443680

Created: 16 Oct 2015, 1:11 p.m.

Panel version: 0

Katie Snape (South London GMC)

Red List (low evidence)

I do not think the evidence is good enough to implicate NTRK1 in Familial MTC
Created: 13 Oct 2015, 12:42 p.m.

Created: 13 Oct 2015, 12:42 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Insensitivity to pain, congenital, with anhidrosis, 256800
Medullary thyroid carcinoma, familial, 155240

OMIM

191315

Clinvar variants

Variants in NTRK1

Penetrance

Complete

Publications

PMID: 10443680

Panels with this gene