Gastrointestinal epithelial barrier disorders
Gene: SAMD9EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 20 panels
2 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: From previous curation highlighting several individuals with variants in this gene presenting with gastrointestinal phenotypes, this gene will be promoted to green.Created: 26 Jul 2018, 11:14 a.m.
Helen Brittain (Genomics England Curator)
Comment when marking as ready: De novo missense to date. Sufficient cases and phenotype appropriate for inclusion.Created: 15 May 2017, 9:34 a.m.
Of the 13 reported cases, 9 had chronic diarrhea. Colonic dilatation reported. Pathophysiology / mechanism unclear, but in view of the consistency of the phenotype, included as a differential for this panel. De novo missense reported to date.Created: 15 May 2017, 9:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MIRAGE syndrome 617053
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- OMIM
- 610456
- Clinvar variants
- Variants in SAMD9
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: samd9 has been classified as Green List (High Evidence).
Set mode of inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for gene: SAMD9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Added New Source
Olivia Niblock (Genomics England Curator)SAMD9 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
Created
Olivia Niblock (Genomics England Curator)SAMD9 was created by Olivia Niblock