RHBDF2

rhomboid 5 homolog 2
OMIM: 614404, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RHBDF2 in Mendeliome


Version 1.2374

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 1.10

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pneumonia
    • Colitis
    • Immunodeficiency