Undiagnosed neurocutaneous disorders
Gene: MSH2EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 37 panels
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Details
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
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- Colorectal cancer, hereditary nonpolyposis, type 1, 120435
- Muir-Torre syndrome, 158320
- Mismatch repair cancer syndrome, 276300
- Lynch Syndrome (HNPCC) and Familial Colorectal Cancer
- OMIM
- 609309
- Clinvar variants
- Variants in MSH2
- Penetrance
- Complete
- Publications
- Panels with this gene
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- Inherited MMR deficiency (Lynch syndrome)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Inherited prostate cancer
- Brain cancer pertinent cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Prostate cancer pertinent cancer susceptibility
- 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
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Additional findings health related
History Filter Activity
Set publications
Rebecca Foulger (Genomics England curator)Publications for MSH2 were set to 26903185
Added New Source
Ellen McDonagh (Genomics England Curator)MSH2 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)MSH2 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)MSH2 was created by ellenmcdonagh