Peutz-Jeghers syndrome

Gene: PMS2

Green List (high evidence)

PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 36 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

Ellen McDonagh (Genomics England Curator)

PMS2 was created by ellenmcdonagh