1. Genes and Genomic Entities
  2. RPS29

RPS29

ribosomal protein S29
OMIM: 603633, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber RPS29 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 Amber
  • Other
Phenotypes
  • Diamond-Blackfan anemia 13
Tags
  • watchlist
Green RPS29 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
Red RPS29 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Phenotypes
    • Radial Ray abnormality
    Amber RPS29 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.123

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Diamond-Blackfan anemia 13 615909
    Green RPS29 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 RPS29 in Rare anaemia


    Level 2: Haematology
    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 615909 Diamond-Blackfan anemia 13
    • Diamond-Blackfan anemia 13, 615909
    Green RPS29 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, imprinted status unknown
    Sources
    • Expert Review Green
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Diamond-Blackfan anemia 13, 615909
    • Diamond-Blackfan anaemia