Sarcoma susceptibility

Gene: MSH2

Amber List (moderate evidence)

MSH2 (mutS homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 34 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.
Created: 13 Mar 2019, 2:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mismatch repair cancer syndrome, 276300

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
  • Expert Review Amber
Phenotypes
  • Mismatch repair cancer syndrome, 276300
OMIM
609309
Clinvar variants
Variants in MSH2
Penetrance
None
Panels with this gene

History Filter Activity

1 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MSH2.

23 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MSH2 was added gene: MSH2 was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome, 276300