Genomics England
GMS Panels
Panels
Genes and Entities

RPL35A

ribosomal protein L35a
OMIM: 180468
PanelMode of inheritanceDetails
5 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia 5, OMIM:612528, Diamond-Blackfan anemia 5, MONDO:0012925
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
upper limb malformation, Diamond-Blackfan anemia 5, 612528, Radial Ray abnormality
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
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