GI tract tumours
Gene: SMAD9EnsemblGeneIds (GRCh38): ENSG00000120693
EnsemblGeneIds (GRCh37): ENSG00000120693
OMIM: 603295, Gene2Phenotype
SMAD9 is in 5 panels
1 review
Sarah Leigh (Genomics England Curator)
Gain-of-function SMAD9 p.V90M results in increased miR21 expression and reduced PTEN expression. Single patient with hamartomatous polyposis and gastrointestinal ganglioneuromas and family history of early death from colorectal carcinomasCreated: 13 Apr 2017, 9:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hamartomatous Polyposis; Gastrointestinal Ganglioneuromas
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Literature
- Phenotypes
-
- Hamartomatous Polyposis
- Gastrointestinal Ganglioneuromas
- OMIM
- 603295
- Clinvar variants
- Variants in SMAD9
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for SMAD9 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added New Source
Ellen McDonagh (Genomics England Curator)SMAD9 was added to GI tractpanel. Sources: Literature
Created
Ellen McDonagh (Genomics England Curator)SMAD9 was created by ellenmcdonagh