| Panel | Mode of inheritance | Details |
|---|---|---|
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 |
Green in Childhood solid tumoursR-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 |
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 DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes FANCB-RELATED FANCONI ANEMIA 229139 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes FANCB-RELATED FANCONI ANEMIA |
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 HydrocephalusR-numbers: R86 Signed-off version 5.0 | 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 disordersComponent of the following Super Panels:
Signed-off version 6.2 | 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 |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | 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, OMIM:300514 |
Green in Pigmentary skin disordersR-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 microcephalyR-numbers: R88 Signed-off version 6.8 | 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 |