1. Genes and Genomic Entities
  2. RPS23

RPS23

ribosomal protein S23
OMIM: 603683, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber RPS23 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephaly, hearing loss, and dysmorphic features
Green RPS23 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Microcephaly, hearing loss, and dysmorphic features
    Amber RPS23 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Literature
    Phenotypes
    • Brachycephaly, trichomegaly, and developmental delay 617412
    Tags
    • watchlist