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 A, 227650, Fanconi Anemia, Complementation Group A, Fanconi Anemia |
R-numbers: R229, R258 Signed-off version 2.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group A, 227650, Fanconi anemia, 227650 Fanconi anemia complementation group A |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP A |
Green in Growth failure in early childhoodR-numbers: R147 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes pre- and postnatal growth retardation, a typical facial appearance with small head, eyes, and mouth, hypogonadism and reduced fertility, malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii), Fanconi anemia, complementation group A, 227650, cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots), hearing loss, and susceptibility to cancer, predominantly acute myeloid leukemia., Fanconi Anemia, 227650 Fanconi anemia complementation group A, 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 A, MDS, AML, Leukaemia, Squamous cell carcinoma: oral, GI, vulvar |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group A, 227650, Radial Ray abnormality |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCA, FANCONI ANEMIA, COMPLEMENTATION GROUP A |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group A, 227650 (Microcephaly) |