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Fetal anomalies

Gene: NTRK1

Red List (low evidence)

NTRK1 (neurotrophic receptor tyrosine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000198400
EnsemblGeneIds (GRCh37): ENSG00000198400
OMIM: 191315, Gene2Phenotype
NTRK1 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NTRK1 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS
Created: 11 Dec 2018, 9:05 a.m.

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to NTRK1. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NTRK1 was added gene: NTRK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS