Familial rhabdomyosarcoma

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

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Constitutional mismatch repair deficiency is associated with a wide range of tumour types. Rhabdomyosarcoma is reported, however infrequently. Reviewed with Clare Turnbull and Gareth Evans for consensus.
Created: 21 Dec 2017, 10:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mismatch repair cancer syndrome, 276300

History Filter Activity

21 Dec 2017, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.

21 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PMS2 were set to Mismatch repair cancer syndrome, 276300

21 Dec 2017, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

PMS2 was added to Familial rhabdomyosarcoma panel. Sources: Literature

21 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

PMS2 was created by Louise Daugherty