RPS6KC1

ribosomal protein S6 kinase C1
OMIM: 617517, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber RPS6KC1 in Hereditary spastic paraplegia, childhood onset


Level 2: Neurology
Version 9.8
Latest signed off version: v9.7 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Green RPS6KC1 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum
    • MONDO:0100038
    Amber RPS6KC1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.57
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green
    Amber RPS6KC1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green