Endometrial Cancer
Gene: MSH6EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 17 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Endometrial cancers reported in condition.
Sources: Expert list, Expert ReviewCreated: 18 Sep 2024, 11:19 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Endometrial cancer, MONDO:0011962; Lynch syndrome 5, MONDO:0013710; Mismatch repair cancer syndrome 3, MONDO:0030841; Lynch syndrome 5, MIM#614350; Mismatch repair cancer syndrome 3, MIM#619097
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
-
- Endometrial cancer, MONDO:0011962
- Lynch syndrome 5, MONDO:0013710
- Mismatch repair cancer syndrome 3, MONDO:0030841
- Lynch syndrome 5, MIM#614350
- Mismatch repair cancer syndrome 3, MIM#619097
- OMIM
- 600678
- Clinvar variants
- Variants in MSH6
- Penetrance
- None
- Panels with this gene
-
- Predominantly Antibody Deficiency
- Additional findings_Adult
- Prostate Cancer
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Medulloblastoma
- 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: msh6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: msh6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: MSH6 was added gene: MSH6 was added to Endometrial Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: MSH6 were set to Endometrial cancer, MONDO:0011962; Lynch syndrome 5, MONDO:0013710; Mismatch repair cancer syndrome 3, MONDO:0030841; Lynch syndrome 5, MIM#614350; Mismatch repair cancer syndrome 3, MIM#619097 Review for gene: MSH6 was set to GREEN