Ovarian Cancer
Gene: MSH2EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 16 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Ovarian cancers reported in condition.
Sources: Expert list, Expert ReviewCreated: 18 Sep 2024, 11:42 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Ovarian cancer, MONDO:0008170; Lynch syndrome 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Ovarian cancer, MONDO:0008170
- Lynch syndrome 1, MONDO:0007356
- Mismatch repair cancer syndrome 2, MONDO:0030840
- Lynch syndrome 1, MIM#120435
- Mismatch repair cancer syndrome 2, MIM#619096
- OMIM
- 609309
- Clinvar variants
- Variants in MSH2
- Penetrance
- None
- Panels with this gene
-
- Additional findings_Adult
- Prostate Cancer
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Transplant Co-Morbidity Superpanel
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Medulloblastoma
- Facial papules
- Endometrial Cancer
- Incidentalome
- Additional findings_Paediatric
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: msh2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: msh2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: MSH2 was added gene: MSH2 was added to Ovarian Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: MSH2 were set to Ovarian cancer, MONDO:0008170; Lynch syndrome 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096 Review for gene: MSH2 was set to GREEN