1. Genes and Genomic Entities
  2. RPL26

RPL26

ribosomal protein L26
OMIM: 603704, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Amber RPL26 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
  • Other
Phenotypes
  • Diamond-Blackfan anemia 11
  • Hypoplasia or aplasia of radius, unilateral
  • Absent thumb, bilateral
Tags
  • watchlist
Green RPL26 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.18

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 RPL26 in Limb disorders


Version 5.2
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Phenotypes
    • Radial Ray abnormality
    Red RPL26 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
    • Expert Review Red
    • Expert list
    Phenotypes
    • ?Diamond-Blackfan anemia 11 614900
    Green RPL26 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 4.5
    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
    Red RPL26 in Rare anaemia


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

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • ?Diamond-Blackfan anemia 11, 614900
    • 614900 ?Diamond-Blackfan anemia 11
    Red RPL26 in Cytopenia - NOT Fanconi anaemia


    Version 3.34
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • ?Diamond-Blackfan anemia 11, 614900
    Green RPL26 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 11, OMIM:614900