Familial Hirschsprung Disease
Gene: SAMD9EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 20 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 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
Erwin Brosens (Erasmus MC)
not sure if this is HSCR?Created: 3 Aug 2017, 7:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- MIRAGE syndrome 617053
- OMIM
- 610456
- Clinvar variants
- Variants in SAMD9
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Radial dysplasia
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Multiple monogenic benign skin tumours
- DDG2P
- Gastrointestinal neuromuscular disorders
- Differences in sex development
- Pigmentary skin disorders
- Monogenic short stature
- Familial Hirschsprung Disease
- COVID-19 research
- Congenital adrenal hypoplasia
- Familial tumoral calcinosis
- IUGR and IGF abnormalities
History Filter Activity
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Helen Brittain (Genomics England Curator)SAMD9 was added to Familial Hirschprungs Diseasepanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)SAMD9 was created by helen.brittain