Familial Hirschsprung DiseaseGene: ARID1B
Comment when marking as ready: Marked ARID1B as ready: August 3rd 2017. Insufficient evidence for role of ARID1B in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 9:46 a.m.
PMID:27511161 describe a patient with some symptoms of Coffin-Siris syndrome, and Hirschsprung disease. Exome sequencing revealed a heterozygous frameshift mutation in ARID1B (c.5789delC p.Pro1930Leufs*44).
Created: 5 Jun 2017, 1:34 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).
ARID1B was created by rfoulger
ARID1B was added to Familial Hirschsprung Diseasepanel. Sources: Literature