POLE

DNA polymerase epsilon, catalytic subunit
OMIM: 174762
PanelMode of inheritanceDetails
5 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Colorectal cancer
R-numbers: R150
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IMAGE-I syndrome, OMIM:618336
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IUGR, severe growth failure of prenatal onset, FILS syndrome, 615139, facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)
R-numbers: R211
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Colorectal cancer, susceptibility to, 12}, OMIM:615083
R-numbers: R15
Signed-off version 3.3
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