Familial Hirschsprung Disease
Gene: NCLNAdded 'watchlist' tag alongside Amber rating.Created: 3 Aug 2017, 2:42 p.m.
Comment on list classification: Updated rating from Red to Amber: NCLN 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, 10:33 a.m.
PMID:28274275 (Gui et al., 2017) performed de novo mutation (DNM) screening on 24 HSCR trios. They identified a nonsense mutation in NCLN, c.496C > T:p.Q166X. PMID:28274275 also shows animal model: NCLN knockdown disrupted ENS development and caused a HSCR-like phenotype in zebrafish. Mosaic DNMs were found for NCLN and DAB2IP.Created: 1 Jun 2017, 12:59 p.m.
Added 'mosaicism' tag based on PMID:28274275.Created: 1 Jun 2017, 12:58 p.m.
Mode of inheritance
Unknown
animal model confirmationCreated: 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).
This gene has been classified as Red List (Low Evidence).
Publications for NCLN were set to 28274275
NCLN was created by rfoulger
NCLN was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC