Familial Hirschsprung Disease
Gene: TBATAAdded 'watchlist' tag alongside Amber rating.Created: 3 Aug 2017, 3:09 p.m.
Comment on list classification: Comment on list classification: Updated rating from Red to Amber: Amber expert review plus TBATA was on original expert list submitted by Alder-Hey/Erasmus groups. A 2017 zebrafish model (PMID:28274275) supports the association but not yet 3 reported cases to meet diagnostic grade criteria.Created: 3 Aug 2017, 3:09 p.m.
PMID:28274275 (Gui et al., 2017) performed de novo mutation (DNM) screening on 24 HSCR trios. They identified a R53C missense mutation in TBATA, which is predicted as highly deleterious by Polyphen2. PMID:28274275 also shows animal model: TBATA knockdown disrupted ENS development and caused a HSCR-like phenotype in zebrafish.Created: 1 Jun 2017, 1 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).
Publications for TBATA were set to 28274275
TBATA was created by rfoulger
TBATA was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC