Genodermatoses with malignancies
Gene: MSH2

MSH2 (mutS homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 37 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: On prior testing list, current diagnostic.
Created: 15 Feb 2016, noon

Created: 15 Feb 2016, noon

Panel version: 0.20

Ajith Kumar (Great Ormond Street Hospital)

Green List (high evidence)

Most likely of the lynch syndrome genes to be associated with the Muir Torre phenotype
Created: 19 Oct 2015, 11:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
bowel cancer; endometrial cancer; benign sebaceous gland tumours; sebaceous carcinomas; gatric cancer; urothelial tumours; ovarian cancer

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Oct 2015, 11:34 a.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Eligibility statement prior genetic testing
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Colorectal cancer, hereditary nonpolyposis, type 1, 120435
Muir-Torre syndrome, 158320
Mismatch repair cancer syndrome, 276300
Muir-Torre Syndrome

OMIM

609309

Clinvar variants

Variants in MSH2

Penetrance

Complete

Panels with this gene

History Filter Activity

15 Feb 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).

15 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for MSH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Feb 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: 2