MCF2:Ensemblv90

MCF.2 cell line derived transforming sequence
OMIM: 311030, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red MCF2 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.202

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Perisylvian polymicrogyria

    Red MCF2 in Mendeliome


    Version 1.3802

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Perisylvian polymicrogyria

    Red MCF2 in Fetal anomalies


    Version 1.482

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Perisylvian polymicrogyria

    Red MCF2 in Polymicrogyria and Schizencephaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • Perisylvian polymicrogyria