Gastrointestinal neuromuscular disorders
Gene: SAMD9
SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 20 panels
1 review
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases for causation. De novo missense mutations reported to date.Created: 15 May 2017, 9:38 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, 9:36 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
- Literature
- Phenotypes
-
- MIRAGE syndrome 617053
- Tags
- 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
15 May 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 May 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 May 2017, Gel status: 0
Added New Source
Helen Brittain (Genomics England Curator)SAMD9 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature
15 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)SAMD9 was created by helen.brittain