POLH

DNA polymerase eta
OMIM: 603968
PanelMode of inheritanceDetails
4 panels
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, variant type, 278750
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, variant type, 278750
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, variant type, 278750
R-numbers: R227
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, variant type, 278750