SHROOM4

shroom family member 4
OMIM: 300579, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SHROOM4 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719

    Green SHROOM4 in Mendeliome


    Version 1.1891

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719
    • epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579

    Green SHROOM4 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579

    Red SHROOM4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Stocco dos Santos X-linked mental retardation syndrome, 300434
    • Intellectual disability
    Tags
    • disputed

    Green SHROOM4 in Fetal anomalies


    Version 1.255

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Stocco dos Santos X-linked mental retardation syndrome, 300434