Familial Hirschsprung Disease
Gene: SEMA3AComment when marking as ready: Marked as Ready: August 28th 2017.Created: 28 Aug 2017, 9:30 a.m.
Comment on list classification: Kept rating as Red for now: on original expert list as cluster of genes (SEMA 3A/C/D), and insufficient cases to currently support causation.Created: 28 Aug 2017, 9:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
animal model confirmation. functional test confirming deleterious variantsCreated: 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.
Mode of inheritance for SEMA3A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for SEMA3A were set to 23372769; 25839327
Publications for SEMA3A were set to 23372769
SEMA3A was created by rfoulger
SEMA3A was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC