Genomics England
GMS Panels
Panels
Genes and Entities

RPL5

ribosomal protein L5
OMIM: 603634
PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DIAMOND-BLACKFAN ANEMIA 6, DBA6, Cleft palate
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 6, 612561, DIAMOND-BLACKFAN ANEMIA 6, Diamond Blackfan Anemia 6, Diamond-Blackfan Anemia, Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia 6 612561
Green
in Haematological malignancies cancer susceptibility
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 disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia 6, 612561, Radial Ray abnormality, thumb abnormalities
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 6, 612561, Diamond-Blackfan Anemia 6, DIAMOND-BLACKFAN ANEMIA 6, Diamond_Blackfan Anemia 6, 612561 Diamond_Blackfan Anemia 6, Diamond-Blackfan Anemia, 612561 Diamond-Blackfan anemia 6, Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia