Panel | Mode of inheritance | Details |
---|---|---|
10 panels | ||
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi Anemia |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group G, 614082, Fanconi Anaemia, Fanconi Anemia |
R-numbers: R229, R258 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi Anemia, 614082 Fanconi anemia, complementation group G, Fanconi anemia, complementation group G, 614082 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP G |
Green in Growth failure in early childhoodR-numbers: R147 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 614082 Fanconi anemia, complementation group G, pre- and postnatal growth retardation, a typical facial appearance with small head, eyes, and mouth, hypogonadism and reduced fertility, Fanconi anemia, complementation group G, 614082, Fanconi anemia complementation group G, malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii), cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots), hearing loss, and susceptibility to cancer, predominantly acute myeloid leukemia., Fanconi Anemia, Fanconi anemia, bone marrow failure |
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Class: BM failure FA, (typ AR), AML, leukaemia, Fanconi anaemia G, MDS, AML, Leukaemia, Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Radial Ray abnormality, Fanconi anemia, complementation group G, 614082 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCG, FANCONI ANEMIA, COMPLEMENTATION GROUP G |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group G, 614082 |