RPL11

ribosomal protein L11
OMIM: 604175
PanelMode of inheritanceDetails
6 panels
R-numbers: R91
Signed-off version 1.29
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond_Blackfan Anemia 7, Diamond-Blackfan Anemia, DIAMOND-BLACKFAN ANEMIA 7, Diamond-Blackfan anemia 7, 612562, Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia with cleft palate and abnormal thumbs
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia 7 612562, Diamond-Blackfan anemia with cleft palate and abnormal thumbs
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: BM failure syndrome (typ AR), Diamond Blackfan Anemia, MDS, AML, Osteosarcoma, soft tissue sarcomas
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia 7, 612562, hypoplastic thumb, Radial Ray abnormality, thumb abnormalities
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond_Blackfan Anemia 7, Inherited Bone Marrow Failure Syndromes, 612562 Diamond_Blackfan Anemia 7, Diamond-Blackfan Anemia 7, Diamond-Blackfan Anemia, 612562 Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7, 612562, DIAMOND-BLACKFAN ANEMIA 7, Diamond Blackfan anemia