Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes DIAMOND-BLACKFAN ANEMIA 10, DBA10, Cleft palate |
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Inherited Bone Marrow Failure Syndromes, Diamond-Blackfan anemia 10, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 10, 613309, Diamond Blackfan anemia |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Diamond-Blackfan anemia 10 613309 |
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Class: BM failure syndrome (typ AR), Diamond Blackfan Anemia, MDS, AML, Osteosarcoma, soft tissue sarcomas |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Diamond-Blackfan anemia 10, 613309, upper limb malformation, Radial Ray abnormality |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes 613309 Diamond-Blackfan anemia 10, Inherited Bone Marrow Failure Syndromes, 613309 Diamond_Blackfan Anemia 10, Diamond_Blackfan Anemia 10, Diamond-Blackfan anemia 10, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 10, 613309, Diamond Blackfan anemia |