Peutz-Jeghers syndrome
Gene: SMAD9

SMAD9 (SMAD family member 9)
EnsemblGeneIds (GRCh38): ENSG00000120693
EnsemblGeneIds (GRCh37): ENSG00000120693
OMIM: 603295, Gene2Phenotype
SMAD9 is in 5 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

26122142

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 13 Apr 2017, 9:36 a.m.

Panel version: 0.16

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

26122142

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