Genomics England
GMS Panels
Panels
Genes and Entities

FANCB

Fanconi anemia complementation group B
OMIM: 300515
PanelMode of inheritanceDetails
11 panels
Green
in Adult solid tumours cancer susceptibility
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
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
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
Green
in Confirmed Fanconi anaemia or Bloom syndrome
R-numbers: R229, R258
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
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 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
FANCB-RELATED FANCONI ANEMIA 229139
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
FANCB-RELATED FANCONI ANEMIA
Green
in Haematological malignancies cancer susceptibility
Signed-off version 4.0
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 4.6
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752, Fanconi anemia, complementation group B, OMIM:300514
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
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, 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
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.1
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, OMIM:300514
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
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
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 5.7
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