RPL11

ribosomal protein L11
OMIM: 604175, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green RPL11 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 7, MIM# 612562
    • MONDO:0012938

    Green RPL11 in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 1.8

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 7, MIM# 612562
    • MONDO:0012938

    Red RPL11 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Diamond-Blackfan anemia 7

    Amber RPL11 in Mandibulofacial Acrofacial dysostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.12

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 7, MIM# 612562
    • MONDO:0012938

    Green RPL11 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 7, MIM# 612562
    • MONDO:0012938

    Green RPL11 in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.47

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RPL11 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.15

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anaemia 7, MIM# 612562
    • MONDO:0012938

    Red RPL11 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Diamond-Blackfan anemia 7, MIM#612562

    Green RPL11 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Diamond-Blackfan anemia

    Green RPL11 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 7, MIM# 612562
    • MONDO:0012938

    Amber RPL11 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Diamond-Blackfan anemia 7, MIM# 612562
    • Cleft palate

    Green RPL11 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia with cleft palate and abnormal thumbs
    • Diamond-Blackfan anaemia 7, MIM# 612562
    • MONDO:0012938

    Green RPL11 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 7, MIM# 612562
    • MONDO:0012938

    Green RPL11 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Diamond-Blackfan anaemia, MIM#612562
    Tags
    • treatable
    • haematological