RPL26

ribosomal protein L26
OMIM: 603704, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber RPL26 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.18

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 1.12

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 2.79
Latest signed off version: v2.2 (13 Feb 2020)

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 1.106

    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 2.34
    Latest signed off version: v2.2 (18 Feb 2020)

    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 1.41
    Latest signed off version: v1.2 (3 Mar 2020)

    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 1.70
    Latest signed off version: v1.29 (15 Oct 2020)

    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