Familial Tumours Syndromes of the central & peripheral Nervous system

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 35 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: Include all Lynch genes to pick up cases with multiple brain tumours.
Created: 23 May 2016, 12:35 p.m.

History Filter Activity

23 May 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).

23 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for PMS2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

23 May 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).

27 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PMS2 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Emory Genetics Laboratory

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PMS2 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Emory Genetics Laboratory