MSH6

PanelMode of inheritanceDetails
9 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lynch Syndrome, CMMRD
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adult Glioma
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: Familial cancer syndrome, Constitutional mismatch repair deficiency syndrome (Lynch syndrome), Lymphoma, ALL, MDS, AML, Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other
R-numbers: R210
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
R-numbers: R207
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ovarian cancer, MONDO:0008170
R-numbers: R211
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mismatch repair cancer syndrome, OMIM:276300, Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350, Endometrial cancer, familial, OMIM:608089
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ovarian cancer
R-numbers: R236
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MISMATCH REPAIR CANCER SYNDROME, 276300
R-numbers: R359
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CMMRD, 276300, Lynch Syndrome