RPL35A

ribosomal protein L35a
OMIM: 180468, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green RPL35A 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 5, 612528 upper limb malformation
Green RPL35A 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 Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML Osteosarcoma, soft tissue sarcomas
Green RPL35A in Limb disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024) 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 upper limb malformation Diamond-Blackfan anemia 5, 612528 Radial Ray abnormality
Green RPL35A 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 Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-Blackfan anemia 5, 612528 Diamond_Blackfan Anemia 5 DIAMOND-BLACKFAN ANEMIA 5
Green RPL35A 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 RPL35A 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 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
Green RPL35A 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 5, 612528 Diamond-Blackfan Anemia DIAMOND-BLACKFAN ANEMIA 5 Inherited Bone Marrow Failure Syndromes Diamond Blackfan Anemia 5 Diamond Blackfan anemia
Green RPL35A in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE Additional Gene List Phenotypes Diamond-Blackfan anemia 5, OMIM:612528 Diamond-Blackfan anemia 5, MONDO:0012925
Green RPL35A 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 5, 612528