Genodermatoses with malignancies

Gene: MSH2

Green List (high evidence)

MSH2 (mutS homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 33 panels

2 reviews

Ellen Thomas (Genomics England Curator)

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

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

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

Added New Source

Ellen McDonagh (Genomics England Curator)

MSH2 was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing

27 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MSH2 was added to Genodermatoses with malignanciespanel. Source: UKGTN

27 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MSH2 was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen

17 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MSH2 was added to Genodermatoses with malignanciespanel. Sources: Eligibility statement prior genetic testing

17 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MSH2 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

17 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MSH2 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN