Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
R-numbers: R229, R258 Signed-off version 2.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 616435 Fanconi anemia, complementation group T, Falcon anemia, Fanconi anemia, complementation group T, 616435 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP T 616435 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP T |
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Squamous cell carcinoma: oral, GI, vulvar |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi Anemia, Complementation Group T, 616435 |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group T, OMIM:616435 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCT, FANCONI ANEMIA, COMPLEMENTATION GROUP T |