Genomics England
GMS Panels
Panels
Genes and Entities

PMS2

PMS1 homolog 2, mismatch repair system component
OMIM: 600259
PanelMode of inheritanceDetails
8 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lynch Syndrome, CMMRD
Green
in Brain cancer pertinent cancer susceptibility
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adult Glioma
Green
in Childhood solid tumours
Signed-off version 5.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CMMRD, 276300, Lynch Syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MISMATCH REPAIR CANCER SYNDROME 276300
Green
in Haematological malignancies cancer susceptibility
Signed-off version 5.0
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
Green
in Inherited MMR deficiency (Lynch syndrome)
R-numbers: R210
Signed-off version 1.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337, Colorectal cancer, hereditary nonpolyposis, type 4, MONDO:0013699, Lynch syndrome 1, MONDO:0007356
Green
in Inherited polyposis and early onset colorectal cancer - germline testing
R-numbers: R211
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337, Mismatch repair cancer syndrome 4, OMIM:619101
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MISMATCH REPAIR CANCER SYNDROME, 276300