Genomics England
GMS Panels
Panels
Genes and Entities

POLE

DNA polymerase epsilon, catalytic subunit
OMIM: 174762
PanelMode of inheritanceDetails
6 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Colorectal cancer
Green
in Congenital adrenal hypoplasia
R-numbers: R150
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IMAGE-I syndrome, OMIM:618336
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IMAGe Syndrome with variable immunodeficiency
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IUGR, severe growth failure of prenatal onset, FILS syndrome, 615139, facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)
Green
in Inherited polyposis and early onset colorectal cancer - germline testing
R-numbers: R211
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Colorectal cancer, susceptibility to, 12}, OMIM:615083
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FILS syndrome 615139, Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome), Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature, Combined immunodeficiencies with associated or syndromic features