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Pain syndromes

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

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

also known as: Insensitivity to pain, congenital, with anhidrosis Hereditary sensory and autonomic neuropathy IV HSAN4
Created: 9 Jul 2017, 4:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Insensitivity to pain, congenital, with anhidrosis; 256800

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary sensory neuropathy type IV (HSAN 4)

Publications

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

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Insensitivity to pain, congenital, with anhidrosis 256800

Created: 29 Jun 2017, 9:19 a.m.

Panel version: Imported from "Pain" panel version 0.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hereditary sensory neuropathy type IV
  • HSAN 4
  • Insensitivity to pain, congenital, with anhidrosis, 256800
OMIM
191315
Clinvar variants
Variants in NTRK1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NTRK1 were set to Hereditary sensory neuropathy type IV; HSAN 4; Insensitivity to pain, congenital, with anhidrosis, 256800

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NTRK1 were set to Hereditary sensory neuropathy type IV (HSAN 4); Insensitivity to pain, congenital, with anhidrosis, 256800

9 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NTRK1 were set to Hereditary sensory neuropathy type IV (HSAN 4);Insensitivity to pain, congenital, with anhidrosis; 256800

9 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

9 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

NTRK1 was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene

9 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

NTRK1 was created by BRIDGE