1. Genes and Genomic Entities
  2. RPL35A

RPL35A

ribosomal protein L35a
OMIM: 180468, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green RPL35A 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 5, 612528
  • upper limb malformation
Green RPL35A 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
  • 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


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
    • 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 1.123

    		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 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 RPL35A 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
    • 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


    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 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


    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
    • Expert Review Green
    • PAGE Additional Gene List
    Phenotypes
    • Diamond-Blackfan anemia 5, OMIM:612528
    • Diamond-Blackfan anemia 5, MONDO:0012925