Inherited polyposisGene: 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, 12:34 p.m. | Last Modified: 31 Jul 2019, 12:34 p.m.
Panel Version: 0.48
Variants in this GENE are reported as part of current diagnostic practice
Tumor Suppressor. Biallelic phenotype.
Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Lynch Syndrome; CMMRD
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.
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
Added phenotypes Mismatch repair cancer syndrome 276300 AR; Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Muir-Torre syndrome 158320 AD for gene: MLH1
Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: mlh1 has been classified as Green List (High Evidence).
gene: MLH1 was added gene: MLH1 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MLH1 was set to