SRPX2

sushi repeat containing protein, X-linked 2
OMIM: 300642, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red SRPX2 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.189

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643

    Red SRPX2 in Mendeliome


    Version 1.1891

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643

    Red SRPX2 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
    • Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643

    Red SRPX2 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review Not set
    Sources
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • Cerebral Malformation Disorders