Inherited polyposis and early onset colorectal cancer - germline testing
Gene: MSH6As 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
Publications
Variants in this GENE are reported as part of current diagnostic practice
Biallelic phenotype.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lynch Syndrome; CMMRD
Comment on list classification: Current diagnostic.Created: 7 Feb 2016, 9:19 p.m.
http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=MSH6
Biallelic mutations cause Constitutional Mismatch Repair Disorder (CMMR-D)Created: 8 Dec 2015, 2:23 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications
Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome 276300 AR; Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD; Endometrial cancer, familial 608089 to Mismatch repair cancer syndrome, OMIM:276300; Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350; Endometrial cancer, familial, OMIM:608089
Added phenotypes Mismatch repair cancer syndrome 276300 AR; Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD; Endometrial cancer, familial 608089 for gene: MSH6
Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: msh6 has been classified as Green List (High Evidence).
gene: MSH6 was added gene: MSH6 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MSH6 was set to