GI tract tumours

Gene: PMS2

Green List (high evidence)

PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 36 panels

5 reviews

Ivone Leong (Genomics England Curator)

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

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

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.

Ian Frayling (Cardiff University)

Green List (high evidence)

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

  • Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115
  • doi:10.1038/ng.2854.

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Other
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 4 614337
  • Mismatch repair cancer syndrome 276300 AR
OMIM
600259
Clinvar variants
Variants in PMS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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)

12 May 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

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

12 May 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PMS2 were set to Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR

12 May 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PMS2 were set to 24362816

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PMS2 was added to GI tractpanel. Source: Other

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PMS2 was added to GI tractpanel. Sources: Emory Genetics Laboratory,Eligibility statement prior genetic testing,Expert Review Green

11 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PMS2 was created by ellenmcdonagh