MLH1

PanelMode of inheritanceDetails
10 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, 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
Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310, Mismatch repair cancer syndrome, OMIM:276300, Muir-Torre syndrome, OMIM:158320
R-numbers: R230
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Muir-Torre syndrome, OMIM:158320
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