Familial Hirschsprung Disease
Gene: SAMD9Comment when marking as ready: Kept rating as Red and marked as Ready (August 29th 2017) based on revised review from Helen Brittain.Created: 28 Aug 2017, 9:24 a.m.
I had considered this as a possible mimic / differential. However, after reviewing the inclusion criteria I do not think that this gene has a strong place on the HSCR panel. The condition is most likely to be detected on other associated panels via the syndromic features.Created: 21 Aug 2017, 11:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MIRAGE syndrome 617053
Publications
Mode of pathogenicity
Other
not sure if this is HSCR?Created: 3 Aug 2017, 7:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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).
SAMD9 was added to Familial Hirschprungs Diseasepanel. Sources: Literature
SAMD9 was created by helen.brittain