Peutz-Jeghers syndrome

Gene: SMAD9

Red List (low evidence)

SMAD9 (SMAD family member 9)
EnsemblGeneIds (GRCh38): ENSG00000120693
EnsemblGeneIds (GRCh37): ENSG00000120693
OMIM: 603295, Gene2Phenotype
SMAD9 is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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 carcinomas
Created: 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

13 Apr 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SMAD9 was created by sleigh

13 Apr 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SMAD9 was added to Peutz-Jeghers syndromepanel. Sources: Literature