Genomics England

FANCB

Fanconi anemia complementation group B

Panel	Mode of inheritance	Details
Filter panels11 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 3.79	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 3.122	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes FANCB-RELATED FANCONI ANEMIA
Green in Growth failure in early childhood R-numbers: R147 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 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
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 4.0	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 4.13	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 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 4.41	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