FANCB

Fanconi anemia complementation group B
OMIM: 300515
PanelMode of inheritanceDetails
11 panels
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fanconi anemia, complementation group B, 300514
R-numbers: R229, R258
Signed-off version 1.7
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Falcon anemia, Fanconi Anemia Type B, 300514 Fanconi anemia, complementation group B, Fanconi Anemia, X-Linked, Fanconi Anaemia, Fanconi anemia, complementation group B, 300514
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
FANCB-RELATED FANCONI ANEMIA 229139
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
FANCB-RELATED FANCONI ANEMIA
R-numbers: R147
Signed-off version 1.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fanconi Anemia Type B, VACTERL Association with Hydrocephalus, 300514 Fanconi anemia, complementation group B, Fanconi Anemia, X-Linked, Fanconi Anaemia, Fanconi anemia, Falcon anemia, Fanconi anemia, complementation group B, 300514
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
VACTERL Association with Hydrocephalus, Vacterl Association, X-Linked, With Or Without Hydrocephalus, VACTERLX, Fanconi anemia, complementation group B 300514
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fanconi anemia, complementation group B, 300514, VACTERL Association with Hydrocephalus, Vacterl Association, X-Linked, With Or Without Hydrocephalus, Fanconi Anemia, Complementation Group B, VACTERL-Hydrocephalus Syndrome, Fanconi Anemia, X-Linked, Radial Ray abnormality, Fanconi Anemia Type B
R-numbers: R236
Signed-off version 1.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP B, FANCB
R-numbers: R88
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fanconi anemia, complementation group B, 300514
R-numbers: R359
Signed-off version 2.5
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fanconi Anemia, Complementation Group C, Fanconi Anemia Type B, Fanconi Anemia, X-Linked, Fanconi anemia, complementation group B, 300514