Inherited polyposis and early onset colorectal cancer - germline testing
Gene: MSH2As 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
Tumor Suppressor. 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 publications: 24362816Created: 12 May 2017, 12:26 p.m.
Comment on list classification: Current diagnostic.Created: 7 Feb 2016, 9:17 p.m.
http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=MSH2
Biallelic mutations cause Constitutional Mismatch Repair Disorder (CMMR-D)Created: 8 Dec 2015, 2:22 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: MSH2 were changed from Muir-Torre syndrome 158320 AD; Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR to Muir-Torre syndrome, OMIM:158320; Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435; Mismatch repair cancer syndrome, OMIM:276300
Added phenotypes Muir-Torre syndrome 158320 AD; Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR for gene: MSH2
Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: msh2 has been classified as Green List (High Evidence).
gene: MSH2 was added gene: MSH2 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MSH2 was set to