Familial Hirschsprung DiseaseGene: MBTPS2
Comment when marking as ready: Marked MBTPS2 as ready: August 3rd 2017. Red review plus insufficient evidence for role of MBTPS2 in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 10:30 a.m.
The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder. Some patients have additional features, including Hirschsprung disease.
Created: 5 Jun 2017, 2:06 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
IFAP syndrome with or without BRESHECK syndrome, 308205
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).
MBTPS2 was added to Familial Hirschsprung Diseasepanel. Sources: Other
MBTPS2 was created by rfoulger