Panel | Mode of inheritance | Details |
---|---|---|
17 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hereditary Breast and Ovarian Cancer |
Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Breast-ovarian cancer, familial, 2}, OMIM:612555, {Breast cancer, male, susceptibility to}, OMIM:114480 |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D1, OMIM:605724, Wilms tumor, OMIM:194070, {Glioblastoma 3}, OMIM:613029, {Medulloblastoma}, OMIM:155255 |
R-numbers: R229, R258 Signed-off version 2.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 |
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 |
R-numbers: R208 Signed-off version 2.5 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Breast-ovarian cancer, familial, 2}, OMIM:612555 |
R-numbers: R207 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Breast-ovarian cancer, familial, 2}, OMIM:612555, Hereditary breast ovarian cancer syndrome, MONDO:0003582 |
Green in Inherited pancreatic cancerR-numbers: R367 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes {Pancreatic cancer 2}, OMIM:613347, Pancreatic cancer, susceptibility to, 2, MONDO:0013235 |
Green in Inherited prostate cancerR-numbers: R430 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 |
R-numbers: R444 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Breast-ovarian cancer, familial, 2}, OMIM:612555, {Breast cancer, male, susceptibility to}, OMIM:114480, {Prostate cancer}, OMIM:176807 |
Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Breast-ovarian cancer, familial, 2}, OMIM:612555 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 |