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Prepair 1000+

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

NTRK1 congenital insensitivity to pain with anhidrosis (NTRK1-CIPA) is characterized by profound sensory loss affecting pain and temperature perception, absence of sweating (anhidrosis), and intellectual disability (GeneReviews PMID: 20301726). Onset in infancy (OMIM).

Clinical phenotype varies widely even among individuals with the same two NTRK1 pathogenic variants (GeneReviews PMID: 20301726).
Created: 14 Jan 2025, 11:44 p.m. | Last Modified: 14 Jan 2025, 11:44 p.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ntrk1 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NTRK1 were changed from Insensitivity to pain, congenital, with anhidrosis, 256800 (3) to Insensitivity to pain, congenital, with anhidrosis MIM#256800

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NTRK1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 (3) for gene: NTRK1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NTRK1 was added gene: NTRK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3)