Genomics England
GMS Panels
Panels
Genes and Entities

POLD1

DNA polymerase delta 1, catalytic subunit
OMIM: 174761
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, Endometrial cancer
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
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, 10}, OMIM:612591, Colorectal cancer, susceptibility to, 10, MONDO:0012953
Green
in Lipodystrophy - childhood onset
R-numbers: R158
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 2.60
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.26
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability, Polymerase d 1 deficiency, Immunodeficiencies affecting cellular and humoral immunity