RPS24

ribosomal protein S24
OMIM: 602412
PanelMode of inheritanceDetails
4 panels
R-numbers: R91
Signed-off version 1.29
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond_Blackfan Anemia 3, DIAMOND-BLACKFAN ANEMIA 3, Diamond-Blackfan Anemia, Inherited Bone Marrow Failure Syndromes, Diamond-blackfan anemia 3, 610629, Diamond Blackfan anemia
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 3, 610629, Radial Ray abnormality, upper limb malformation
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
610629 Diamond-blackfan anemia 3, Diamond_Blackfan Anemia 3, Diamond-Blackfan Anemia 3, DIAMOND-BLACKFAN ANEMIA 3, Diamond-Blackfan Anemia, 610629 Diamond_Blackfan Anemia 3, Inherited Bone Marrow Failure Syndromes, Diamond-blackfan anemia 3, 610629, Diamond Blackfan anemia