Familial Hirschsprung DiseaseGene: TUBA1A
Comment when marking as ready: Marked TUBA1A as ready: August 3rd 2017. Red review plus insufficient evidence for role of TUBA1A in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 3:10 p.m.
PMID:23528852 describe an 8-yr old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel heterozygous mutation in the TUBA1A gene c.599G→A (p.Cys402Tyr). The patient developed Hirschsprung disease.
Created: 5 Jun 2017, 1:56 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).
TUBA1A was created by rfoulger
TUBA1A was added to Familial Hirschsprung Diseasepanel. Sources: Literature