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Hereditary neuropathy NOT PMP22 copy number

Gene: NTRK1

Green List (high evidence)

NTRK1 (neurotrophic receptor tyrosine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000198400
EnsemblGeneIds (GRCh37): ENSG00000198400
OMIM: 191315, Gene2Phenotype
NTRK1 is in 11 panels

8 reviews

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

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

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.

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

Green List (high evidence)

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

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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.

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

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

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
191315
Clinvar variants
Variants in NTRK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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