Inherited polyposis and early onset colorectal cancer - germline testing
Gene: PMS2As 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 when marking as ready: Current diagnostic. BUT beware pseudogene - all variants must be confirmed by an expert lab to ensure they are present in the correct gene.Created: 7 Feb 2016, 9:28 p.m.
http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=PMS2
Biallelic mutations cause Constitutional Mismatch Repair Disorder (CMMR-D)Created: 8 Dec 2015, 2:26 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: PMS2 were changed from Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR to Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337; Mismatch repair cancer syndrome 4, OMIM:619101
Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR for gene: PMS2
Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: pms2 has been classified as Green List (High Evidence).
gene: PMS2 was added gene: PMS2 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: PMS2 was set to