MLH1

PanelMode of inheritanceDetails
8 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lynch Syndrome, CMMRD
Signed-off version 2.2
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adult Glioma, Colorectal, Endometrial Carcinoma, Hepatopancreatobiliary, Ovarian
R-numbers: R211, R209
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mismatch repair cancer syndrome 276300 AR, Gastrointestinal and Colorectal Cancer, High Risk Colorectal Cancer, Muir-Torre syndrome 158320 AD
R-numbers: R230
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MISMATCH REPAIR CANCER SYNDROME, 276300
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CMMRD, 276300, Lynch Syndrome