RPL5

ribosomal protein L5
OMIM: 603634, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green RPL5 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Other Phenotypes Diamond-Blackfan anemia 6, 612561 thumb abnormalities
Green RPL5 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	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 RPL5 in Limb disorders Level 2: Musculoskeletal Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) 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 6, 612561 Radial Ray abnormality thumb abnormalities
Green RPL5 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-Blackfan anemia 6, 612561 Diamond_Blackfan Anemia 6 DIAMOND-BLACKFAN ANEMIA 6
Green RPL5 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 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 RPL5 in Rare anaemia Level 2: Haematology Version 3.19 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 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
Green RPL5 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	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 6, 612561 DIAMOND-BLACKFAN ANEMIA 6 Diamond Blackfan Anemia 6 Diamond-Blackfan Anemia Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia
Green RPL5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE Additional Gene List Expert Review Green Phenotypes Diamond-Blackfan anemia 6 612561
Green RPL5 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes DIAMOND-BLACKFAN ANEMIA 6 DBA6 Cleft palate