Peutz-Jeghers syndrome
Gene: MLH1Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed G2P associateions. At least 8 variants reported in Mismatch repair cancer syndrome 276300 and one in Muir-Torre syndrome 158320, however, these phenotypes do not include hamartomatous polyps characteristic of Peutz-Jeghers syndrome. No polyps are associated with colorectal cancer, hereditary nonpolyposis, type 2 609310Created: 11 Apr 2017, 3:01 p.m.
Comment on phenotypes: Also associated with Colorectal cancer, hereditary nonpolyposis, type 2 609310Created: 11 Apr 2017, 2:57 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for MLH1 were set to Mismatch repair cancer syndrome 276300 AR; Muir-Torre syndrome 158320 AD
Publications for MLH1 were set to 24362816
Publications for MLH1 were set to 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.
Publications for MLH1 were set to 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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
MLH1 was created by ellenmcdonagh
MLH1 was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Expert list,Eligibility statement prior genetic testing,Expert Review Green