Familial Hirschsprung Disease
Gene: NTRK3
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.
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for NTRK3 were set to 19040714; 19556619
NTRK3 was created by rfoulger
NTRK3 was added to Familial Hirschsprung Diseasepanel. Sources: Literature