Genomics England
GMS Panels
Panels
Genes and Entities

RPS7

ribosomal protein S7
OMIM: 603658
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 8, Diamond_Blackfan Anemia 8, Diamond-Blackfan anemia 8, 612563, 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 8, OMIM:612563, Diamond-Blackfan anemia 8, MONDO:0012939
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 8, 612563, upper limb malformation, Radial Ray abnormality
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DIAMOND-BLACKFAN ANEMIA 8, 612563 Diamond-Blackfan anemia 8, Diamond_Blackfan Anemia 8, 612563 Diamond_Blackfan Anemia 8, Diamond-Blackfan anemia 8, 612563, Diamond-Blackfan Anemia, Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia