GI tract tumoursGene: MLH1
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:26 p.m. | Last Modified: 31 Jul 2019, 12:26 p.m.
Panel Version: 1.13
Variants in this GENE are reported as part of current diagnostic practice
Comment 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 609310
Created: 11 Apr 2017, 3:01 p.m.
Comment on phenotypes: Also associated with Colorectal cancer, hereditary nonpolyposis, type 2 609310
Created: 11 Apr 2017, 2:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Current diagnostic.
Created: 7 Feb 2016, 9:16 p.m.
Biallelic mutations cause Constitutional Mismatch Repair Disorder (CMMR-D)
Created: 8 Dec 2015, 2:21 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Source Expert List was added to MLH1. Source NHS GMS was added to MLH1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel
Publications for MLH1 were set to 24362816
MLH1 was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert list,Eligibility statement prior genetic testing,Expert Review Green
MLH1 was created by ellenmcdonagh