RPS7

ribosomal protein S7
OMIM: 603658, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green RPS7 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Other Phenotypes Diamond-Blackfan anemia 8, 612563 upper limb malformation
Green RPS7 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.18	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas
Green RPS7 in Limb disorders Version 4.23 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 8, 612563 upper limb malformation Radial Ray abnormality
Green RPS7 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-Blackfan anemia 8, 612563 Diamond_Blackfan Anemia 8 DIAMOND-BLACKFAN ANEMIA 8
Green RPS7 in Haematological malignancies cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas
Green RPS7 in Rare anaemia Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH 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
Green RPS7 in Cytopenia - NOT Fanconi anaemia Version 3.34 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS Wessex and West Midlands GLH 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 RPS7 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Diamond-Blackfan anemia 8, OMIM:612563 Diamond-Blackfan anemia 8, MONDO:0012939
Green RPS7 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Diamond-Blackfan anemia 8, 612563