POLD1

DNA polymerase delta 1, catalytic subunit
OMIM: 174761
PanelMode of inheritanceDetails
5 panels
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
R-numbers: R211, R209
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Colorectal cancer, susceptibility to, 10} 612591
R-numbers: R158
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
R-numbers: R141
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381, multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381