Familial Hirschsprung DiseaseGene: NUP98
Added 'watchlist' tag alongside Amber rating.
Created: 3 Aug 2017, 2:38 p.m.
Comment on list classification: Updated rating from Red to Amber: NUP98 is on original expert list submitted by Alder Hey (Simon Kenny/Sumita Chhabra) and Erasmus groups (Prof. Hofstra's group). A 2017 zebrafish model (PMID:28274275) supports the association, but not yet 3 cases to be considered diagnostic grade.
Created: 3 Aug 2017, 2:37 p.m.
PMID:28274275 (Gui et al., 2017) performed de novo mutation (DNM) screening on 24 HSCR trios. They identified a NUP98 N1662S missense mutation, which is predicted as highly deleterious by Polyphen2. PMID:28274275 also shows animal model: NUP98 knockdown disrupted ENS development and caused a HSCR-like phenotype in zebrafish.
Created: 1 Jun 2017, 1:01 p.m.
Mode of inheritance
animal model confirmation
Created: 8 May 2017, 10:36 a.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 Amber List (Moderate Evidence).
Publications for NUP98 were set to 28274275
NUP98 was created by rfoulger
NUP98 was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC