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Hereditary neuropathy
Gene: NTRK1

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

7 reviews

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

28940190

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

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

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: 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: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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

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: 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: 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: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

South West GLH
NHS GMS
London North GLH
Expert Review Green
Emory Genetics Laboratory
UKGTN
Expert list

Phenotypes

Hereditary Neuropathies
Insensitivity to pain, congenital, with anhidrosis

OMIM

191315

Clinvar variants

Variants in NTRK1

Penetrance

Complete

Publications

28940190

Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis for gene: NTRK1 Publications for gene NTRK1 were changed from to 28940190

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to NTRK1.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NTRK1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to NTRK1. Rating Changed from Green List (high evidence) to Green List (high evidence)

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2016, Gel status: 4