Multiple bowel polyps

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

1 review

Ellen Thomas (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Left off initial v1 panel by mistake. Added after finding a tier 3 variant that should have been tier 2 in a pilot case.
Created: 11 Aug 2016, 8:19 p.m.
The other mismatch repair genes are on the multiple bowel polyps panel. We should consider adding PMS2 to be consistent.
Created: 11 Aug 2016, 4:58 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Lynch syndrome

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Lynch syndrome
OMIM
600259
Clinvar variants
Variants in PMS2
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Aug 2016, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

PMS2 was created by EllenThomas

11 Aug 2016, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

PMS2 was added to Multiple bowel polypspanel. Sources: Other