This Panel is marked as Internal
Peutz-Jeghers syndrome
Gene: MSH2
MSH2 (mutS homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 37 panels
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 37 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- Expert Review Green
- Phenotypes
-
- Gastrointestinal and Colorectal Cancer
- High Risk Colorectal Cancer
- OMIM
- 609309
- Clinvar variants
- Variants in MSH2
- Penetrance
- Complete
- 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.
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Inherited polyposis and early onset colorectal cancer - germline testing
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Genodermatoses with malignancies
- Inherited pancreatic cancer
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Pigmentary skin disorders
- Inherited MMR deficiency (Lynch syndrome)
- Inherited renal cancer
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Endocrine neoplasia
- Prostate cancer pertinent cancer susceptibility
- Inherited prostate cancer
- Neurofibromatosis Type 1
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Childhood solid tumours
- Fetal anomalies
- Inherited non-medullary thyroid cancer
- Additional findings health related
History Filter Activity
3 Jun 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MSH2 was created by ellenmcdonagh
3 Jun 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)MSH2 was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Expert list,Eligibility statement prior genetic testing,Expert Review Green