EXOSC4

exosome component 4
OMIM: 606491, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red EXOSC4 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.4

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092

    Amber EXOSC4 in Mendeliome


    Version 1.3936

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092

    Amber EXOSC4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.542

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092