PMS2

PMS1 homolog 2, mismatch repair system component
OMIM: 600259
PanelMode of inheritanceDetails
7 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lynch Syndrome, CMMRD
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MISMATCH REPAIR CANCER SYNDROME 276300
Signed-off version 2.2
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: R211, R209
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Colorectal cancer, hereditary nonpolyposis, type 4 614337, Mismatch repair cancer syndrome 276300 AR
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