1. Genes and Genomic Entities
  2. RPL11

RPL11

ribosomal protein L11
OMIM: 604175, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green RPL11 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 7, 612562
  • thumb abnormalities
  • hypoplastic thumb
Green RPL11 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 RPL11 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 7, 612562
    • hypoplastic thumb
    • Radial Ray abnormality
    • thumb abnormalities
    Green RPL11 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
    • 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 7, 612562
    • Diamond_Blackfan Anemia 7
    • DIAMOND-BLACKFAN ANEMIA 7
    Green RPL11 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 RPL11 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 7
    • Inherited Bone Marrow Failure Syndromes
    • 612562 Diamond_Blackfan Anemia 7
    • Diamond-Blackfan Anemia 7
    • Diamond-Blackfan Anemia
    • 612562 Diamond-Blackfan anemia 7
    • Diamond-Blackfan anemia 7, 612562
    • DIAMOND-BLACKFAN ANEMIA 7
    • Diamond Blackfan anemia
    Green RPL11 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 7
    • Diamond-Blackfan Anemia
    • DIAMOND-BLACKFAN ANEMIA 7
    • Diamond-Blackfan anemia 7, 612562
    • Inherited Bone Marrow Failure Syndromes
    • Diamond Blackfan anemia
    Green RPL11 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
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Diamond-Blackfan anemia 7 612562
    • Diamond-Blackfan anemia with cleft palate and abnormal thumbs
    Green RPL11 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Diamond-Blackfan anemia with cleft palate and abnormal thumbs
    Red RPL11 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 Not set
    Sources
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cleft palate