1. Genes and Genomic Entities
  2. RPS28

RPS28

ribosomal protein S28
OMIM: 603685, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green RPS28 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.17

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
Amber RPS28 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.25

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Diamond Blackfan anaemia with mandibulofacial dysostosis, 606164
  • two cases only described to date
  • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164
Red RPS28 in Limb disorders


Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Phenotypes
    • Radial Ray abnormality
    Red RPS28 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.118

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164
    Green RPS28 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 4.4
    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
    Amber RPS28 in Rare anaemia


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review Amber
    • Wessex and West Midlands GLH
    Phenotypes
    • 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164
    Amber RPS28 in Cytopenia - NOT Fanconi anaemia


    Version 3.33
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Wessex and West Midlands GLH
    Phenotypes
    • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164
    Amber RPS28 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.110
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    Phenotypes
    • DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
    • DBA15
    • Cleft palate