Childhood solid tumours cancer susceptibility

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 31 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Feedback from Clare Turnbull: only biallelic variants should be reported back for childhood panel.
20 Jul 2017, 3:02 p.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumour suppressor. Report biallelic only.
5 Jul 2017, 11:28 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Lynch Syndrome; CMMRD

Publications

History Filter Activity

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Clare Turnbull: Tumour suppressor. Report bial

20 Jul 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PMS2 was changed to BIALLELIC, autosomal or pseudoautosomal

5 Jul 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PMS2 was added to Childhood solid tumourspanel. Source: Expert Review Green

5 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PMS2 was created by ellenmcdonagh

5 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PMS2 was added to Childhood solid tumourspanel. Sources: Expert list