RPS6KA3

ribosomal protein S6 kinase A3
OMIM: 300075, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green RPS6KA3 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.36

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 2.116
Latest signed off version: v2.3 (2 Mar 2020)

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, OMIM:303600

Green RPS6KA3 in White matter disorders - adult onset


Version 1.30
Latest signed off version: v1.25 (5 Aug 2021)

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 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green RPS6KA3 in Fetal anomalies


Version 1.717
Latest signed off version: v1.92 (21 Aug 2020)

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 2.37
Latest signed off version: v2.2 (13 Feb 2020)

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

Green RPS6KA3 in DDG2P


Version 2.46
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • 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 2.185
    Latest signed off version: v2.5 (13 Feb 2020)

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

    Red RPS6KA3 in Growth failure in early childhood


    Version 1.71
    Latest signed off version: v1.4 (3 Mar 2020)

    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 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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)

    Green RPS6KA3 in Severe Paediatric Disorders


    Version 1.84

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coffin-Lowry syndrome, 303600
    • Mental retardation, X-linked 19, 300844