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Hereditary Neuropathy - complex

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Definitive ClinGen gene-disease association
(HGNC:8031)

PMID: 20301726
LoF mechanism of disease due to the loss of TrkA function
Created: 25 Jul 2023, 5:39 a.m. | Last Modified: 25 Jul 2023, 5:39 a.m.
Panel Version: 0.201

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hereditary sensory and autonomic neuropathy type 4 MONDO:0009746

Publications

Created: 25 Jul 2023, 5:39 a.m.
Last Modified: 25 Jul 2023, 5:39 a.m.
Panel version: 0.201

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • hereditary sensory and autonomic neuropathy type 4 MONDO:0009746
OMIM
191315
Clinvar variants
Variants in NTRK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2023, 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).

28 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NTRK1 were changed from HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis to hereditary sensory and autonomic neuropathy type 4 MONDO:0009746

28 Jul 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NTRK1 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NTRK1 was added gene: NTRK1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTRK1 were set to HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis