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Intellectual_disability

Gene: NTRK1

Red List (low evidence)

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

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Insensitivity to pain, congenital, with anhidrosis, 256800Medullary thyroid carcinoma, familial, 155240
OMIM
191315
Clinvar variants
Variants in NTRK1
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NTRK1 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen