GI tract tumoursGene: PMS2
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, 12:27 p.m. | Last Modified: 31 Jul 2019, 12:27 p.m.
Panel Version: 1.13
Variants in this GENE are reported as part of current diagnostic practice
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.
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
Source Expert List was added to PMS2. Source NHS GMS was added to PMS2. 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
Phenotypes for PMS2 were set to Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR
Publications for PMS2 were set to 24362816
PMS2 was added to GI tractpanel. Source: Other
PMS2 was added to GI tractpanel. Sources: Emory Genetics Laboratory,Eligibility statement prior genetic testing,Expert Review Green
PMS2 was created by ellenmcdonagh