Peutz-Jeghers syndrome
Gene: PMS2

PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 34 panels

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Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Emory Genetics Laboratory
Eligibility statement prior genetic testing
Expert Review Green

Phenotypes

Gastrointestinal and Colorectal Cancer
High Risk Colorectal Cancer

OMIM

600259

Clinvar variants

Variants in PMS2

Penetrance

Complete

Publications

Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115
doi:10.1038/ng.2854.

Panels with this gene

History Filter Activity

3 Jun 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PMS2 was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Eligibility statement prior genetic testing,Expert Review Green

3 Jun 2016, Gel status: 0

Created