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 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP A |
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 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group A, 227650, Radial Ray abnormality |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group A, OMIM:227650 |
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 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group A, 227650 (Microcephaly) |