Peutz-Jeghers syndrome

Gene: MSH6

Green List (high evidence)

MSH6 (mutS homolog 6)
EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 40 panels

0 reviews


Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Clinvar variants
Variants in MSH6
  • 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)

MSH6 was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Expert list,Eligibility statement prior genetic testing,Expert Review Green

3 Jun 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

MSH6 was created by ellenmcdonagh