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Hereditary neuropathy or pain disorder

Gene: NTRK1

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

9 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

I agree with Zornitza Stark that it is a complex phenotype. However, neuropathy has been associated with the phenotype in sufficient number of cases and been reviewed by several expert reviewers. Hence, the rating should remain as Green.

This gene has been associated with relevant phenotypes in both OMIM (MIM #256800) and Gene2Phenotype (with 'definitive' rating in DD and skin panels).
Created: 19 May 2023, 5:24 a.m. | Last Modified: 22 May 2023, 9:36 a.m.
Panel Version: 3.31

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Insensitivity to pain, congenital, with anhidrosis, OMIM:256800

Created: 19 May 2023, 5:24 a.m.
Last Modified: 22 May 2023, 9:36 a.m.
Panel version: 3.30

Zornitza Stark (Australian Genomics)

I don't know

This is a complex phenotype with anhidrosis and other ectodermal features, ID, fever and eye abnormalities in addition to the neuropathy. It is on our 'Neuropathy_complex' rather than our 'Neuropathy_isolated' virtual panel.
Created: 1 Apr 2020, 9:22 a.m. | Last Modified: 1 Apr 2020, 9:22 a.m.
Panel Version: 1.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Insensitivity to pain, congenital, with anhidrosis, MIM# 256800

Created: 1 Apr 2020, 9:22 a.m.
Last Modified: 1 Apr 2020, 9:22 a.m.
Panel version: 1.4

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

In Bristol two probands confirmed compound heterozygous pathogenic variants. PMID: 28940190 - Bristol paper including known nonsense and novel 9 amino acid in-frame deletion (bi-parental inheritance)
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2019, 12:30 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.58

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
Created: 29 Apr 2019, 9:26 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.80

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2019, 9:20 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: G2P and OMIM
Created: 4 May 2016, 8:52 a.m.
Comment on list classification: Promoted from amber to green due to agreement from 3 reviewers.
Created: 4 May 2016, 8:50 a.m.
Created: 4 May 2016, 8:50 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0.33

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

HSN
Created: 9 Dec 2015, 8:49 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Dec 2015, 8:49 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

HSN
Created: 8 Dec 2015, 3:05 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Dec 2015, 3:05 p.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Hereditary Neuropathies
  • Insensitivity to pain, congenital, with anhidrosis, OMIM:256800
OMIM
191315
Clinvar variants
Variants in NTRK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NTRK1 were changed from Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis to Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis, OMIM:256800

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NTRK1 was added gene: NTRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTRK1 were set to 28940190 Phenotypes for gene: NTRK1 were set to Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis