Familial Hirschsprung Disease
Gene: NTRK3EnsemblGeneIds (GRCh38): ENSG00000140538
EnsemblGeneIds (GRCh37): ENSG00000140538
OMIM: 191316, Gene2Phenotype
NTRK3 is in 2 panels
2 reviews
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked as ready: August 14th 2017.Created: 14 Aug 2017, 2:44 p.m.
Comment on list classification: Kept rating as Red: Red external review and currently insufficient reports of NTRK3 monogenic variants causing Hirschsprung's disease.Created: 14 Aug 2017, 2:44 p.m.
'monogenic-polygenic' tag added based on PMID:19040714 showing the presence of both RET and NTRK3 mutations in 2 affected family members. Polygenic mode of action of RET and NTRK3 is supported by PMID:19556619.Created: 14 Aug 2017, 2:43 p.m.
PMID:19040714 screened the NTRK3 coding region in 143 Spanish HSCR patients. A total of 4 previously described polymorphisms and 12 novel sequence variants were detected. Of note, 2 affected members of one family carried a IVS6+2T>A RET mutation AND a p.R645C NTRK3 mutation. The individual mutations were inherited from unaffected parents so the affected individuals are the only family members to carry the mutations in co-occurrence.Created: 5 Jun 2017, 1:53 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Hirschsprung disease
- Tags
- OMIM
- 191316
- Clinvar variants
- Variants in NTRK3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for NTRK3 were set to 19040714; 19556619
Created
Rebecca Foulger (Genomics England curator)NTRK3 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)NTRK3 was added to Familial Hirschsprung Diseasepanel. Sources: Literature