RPS6KA3

ribosomal protein S6 kinase A3
OMIM: 300075, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green RPS6KA3 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Coffin Lowry

Green RPS6KA3 in Hydrocephalus


Version 2.1

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Coffin-Lowry syndrome

Green RPS6KA3 in White matter disorders - adult onset


Version 0.21

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Coffin-Lowry syndrome, 303600

Red RPS6KA3 in Autism


Version 0.15

Component of the following Super Panels:

  • TEST - Superpanel v2.5
  • review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green RPS6KA3 in Fetal anomalies


    Version 0.346

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • COFFIN-LOWRY SYNDROME

    No list RPS6KA3 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.0

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age

    Green RPS6KA3 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Coffin-Lowry Syndrome 2 RPS6KA3 XLD
    • Coffin-Lowry Syndrome 2 RPS6KA3 XLR

    Red RPS6KA3 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.4

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss

    Red RPS6KA3 in Growth failure in early childhood


    Version 1.3

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    Phenotypes
    • Coffin Lowry

    Green RPS6KA3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • White matter disorders - childhood onset v4.229
  • Hypotonic infant with a likely central cause v3.1049
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Coffin-Lowry syndrome, 303600Mental retardation, X-linked 19, 300844
    • COFFIN-LOWRY SYNDROME (CLS)