RHBDF2

rhomboid 5 homolog 2
OMIM: 614404, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RHBDF2 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tylosis with esophageal cancer, MIM# 148500
  • Immune dysregulation

Green RHBDF2 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tylosis with oesophageal cancer, MIM# 148500

Green RHBDF2 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
    • Literature
    Phenotypes
    • Pneumonia
    • Colitis
    • Immunodeficiency

    Red RHBDF2 in NCGC


    Version 0.2

    review Other
    Sources
    • NCGC
    Phenotypes
    • Howel-Evans syndrome

    Red RHBDF2 in TCGA_PANCAN_2018


    Version 0.2

    review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Howel-Evans syndrome