FANCD2

Fanconi anemia complementation group D2
OMIM: 613984
PanelMode of inheritanceDetails
10 panels
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia
R-numbers: R229, R258
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia, 227646 Fanconi anemia, complementation group D2, Fanconi anemia, complementation group D2, 227646
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
R-numbers: R147
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, Fanconi anemia, complementation group D2, 227646, 227646 Fanconi anemia, complementation group D2, Fanconi Anemia
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure FA, (typ AR), AML, leukaemia, Fanconi anaemia D2, MDS, AML, Acute myeloid leukaemia (AML), Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D2, 227646, Radial Ray abnormality
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCD2, FANCONI ANEMIA, COMPLEMENTATION GROUP D2
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D2, 227646 (Microcephaly)
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D2, 227646, Fanconi Anaemia, Fanconi Anemia