| Panel | Mode of inheritance | Details |
|---|---|---|
11 panels | ||
Signed-off version 2.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hereditary Breast and Ovarian Cancer |
Signed-off version 1.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Breast cancer |
R-numbers: R229, R258 Signed-off version 1.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, 617883 Fanconi anemia, complementation group S |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes INTELLECTUAL DISABILITY 616579 |
Signed-off version 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Squamous cell carcinoma: oral, GI, vulvar |
R-numbers: R208 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370 |
R-numbers: R207 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370, Hereditary breast ovarian cancer syndrome, MONDO:0003582 |
Green in Inherited pancreatic cancerR-numbers: R367 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes {Pancreatic cancer, susceptibility to, 4}, OMIM:614320, Pancreatic cancer, susceptibility to, 4, MONDO:0013685 |
Signed-off version 1.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Ovarian cancer |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCS, FANCONI ANEMIA, COMPLEMENTATION GROUP S |
R-numbers: R359 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hereditary Breast and Ovarian Cancer |