RPL35A

ribosomal protein L35a
OMIM: 180468
PanelMode of inheritanceDetails
4 panels
R-numbers: R91
Signed-off version 1.29
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 5, 612528, Diamond-Blackfan Anemia, DIAMOND-BLACKFAN ANEMIA 5, Inherited Bone Marrow Failure Syndromes, Diamond Blackfan Anemia 5, 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
upper limb malformation, Diamond-Blackfan anemia 5, 612528, Radial Ray abnormality
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
612528 Diamond_Blackfan Anemia 5, Diamond-Blackfan Anemia 5, Diamond-Blackfan anemia 5, 612528, Diamond-Blackfan Anemia, 612528 Diamond-Blackfan anemia 5, DIAMOND-BLACKFAN ANEMIA 5, Inherited Bone Marrow Failure Syndromes, Diamond_Blackfan Anemia 5, Diamond Blackfan anemia