DDB2

damage specific DNA binding protein 2
OMIM: 600811
PanelMode of inheritanceDetails
5 panels
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
R-numbers: R359
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE 278740
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
R-numbers: R227
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xeroderma pigmentosum, group E, DDB-negative subtype, 278740