RPS6KC1

ribosomal protein S6 kinase C1
OMIM: 617517, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RPS6KC1 in Mendeliome


Version 1.4782

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460

Green RPS6KC1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.409

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460

    Green RPS6KC1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.593

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460

    Green RPS6KC1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.755

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460

    Green RPS6KC1 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.149

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460