CARMIL2

capping protein regulator and myosin 1 linker 2
OMIM: 610859, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CARMIL2 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Early onset paediatric inflammatory bowel disease

    Green CARMIL2 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 58, MIM# 618131
    • Early onset paediatric inflammatory bowel disease

    Green CARMIL2 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 0.186

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 58, MIM# 618131