Panel | Mode of inheritance | Details |
---|---|---|
14 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes breast, pancreas |
Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Breast cancer |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi Anaemia, Fanconi anemia, complementation group N, 610832, {Pancreatic cancer, susceptibility to, 3}, 613348, Fanconi Anemia, {Breast cancer, susceptibility to}, 114480 |
R-numbers: R229, R258 Signed-off version 2.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group N, 610832, 610832 Fanconi anemia, complementation group N |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP N |
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar |
R-numbers: R208 Signed-off version 2.5 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes {Breast cancer, susceptibility to}, OMIM:114480 |
R-numbers: R207 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Fanconi anemia, complementation group N, 610832, {Breast cancer, susceptibility to}, 114480, {Pancreatic cancer, susceptibility to, 3}, 613348, High Risk Breast Cancer, Breast and Ovarian Cancer |
Green in Inherited pancreatic cancerR-numbers: R367 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes {Pancreatic cancer, susceptibility to, 3}, OMIM:613348, Pancreatic cancer, susceptibility to, 3, MONDO:0013236 |
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 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group N, 610832, Radial Ray abnormality |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi anemia, complementation group N, OMIM:610832 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Fanconi Anaemia, FANCN, FANCONI ANEMIA, COMPLEMENTATION GROUP N |