Inherited polyposis

Gene: MSH2

Green List (high evidence)

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

7 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:34 p.m. | Last Modified: 31 Jul 2019, 12:34 p.m.
Panel Version: 0.48

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

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

Lara Hawkes (Genomics England)

Green List (high evidence)

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor. Biallelic phenotype.
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Lynch Syndrome; CMMRD

Sarah Leigh (Genomics England Curator)

Comment on publications: 24362816
Created: 12 May 2017, 12:26 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Current diagnostic.
Created: 7 Feb 2016, 9:17 p.m.

Ian Frayling (Cardiff University)

Green List (high evidence)

http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=MSH2
Biallelic mutations cause Constitutional Mismatch Repair Disorder (CMMR-D)
Created: 8 Dec 2015, 2:22 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Publications

  • Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt M, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, du Sart D, Fabre A, Farrell MP, Farrington S, Frayling IM, et al., on behalf of InSiGHT, Macrae F, Genuardi M. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics 46:107-115
  • doi:10.1038/ng.2854.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • Muir-Torre syndrome 158320 AD
  • Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD
  • Mismatch repair cancer syndrome 276300 AR
OMIM
609309
Clinvar variants
Variants in MSH2
Penetrance
None
Panels with this gene

History Filter Activity

2 Aug 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Muir-Torre syndrome 158320 AD; Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR for gene: MSH2

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: msh2 has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: MSH2 was added gene: MSH2 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MSH2 was set to