Familial Hirschsprung Disease

Gene: SAMD9

Red List (low evidence)

SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 21 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment 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.

Helen Brittain (Genomics England Curator)

I don't know

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

MIRAGE syndrome 617053


Mode of pathogenicity

Erwin Brosens (Erasmus MC)

I don't know

not sure if this is HSCR?
Created: 3 Aug 2017, 7:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

18 Oct 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

28 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

15 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

SAMD9 was added to Familial Hirschprungs Diseasepanel. Sources: Literature

15 May 2017, Gel status: 0


Helen Brittain (Genomics England Curator)

SAMD9 was created by helen.brittain