RPS19

ribosomal protein S19
OMIM: 603474
PanelMode of inheritanceDetails
6 panels
R-numbers: R91
Signed-off version 1.29
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond_Blackfan Anemia, Diamond-Blackfan anemia 1, 105650, DIAMOND-BLACKFAN ANEMIA 1, Diamond-Blackfan Anemia, 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
RPS19-RELATED DIAMOND-BLACKFAN ANEMIA 220176
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RPS19-RELATED 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
Mild radial hypoplasia, Diamond-Blackfan anemia 1, 105650, Hypoplastic thumbs, Absent thumbs, Radial Ray abnormality, Triphalangeal thumbs
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
105650 Diamond_Blackfan Anemia 1, Diamond_Blackfan Anemia, Diamond-Blackfan anemia 1, 105650, DIAMOND-BLACKFAN ANEMIA 1, 105650 Diamond-Blackfan anemia 1, Diamond-Blackfan Anemia, Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia