RHBDF2

rhomboid 5 homolog 2
OMIM: 614404, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green RHBDF2 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • tylosis with esophageal cancer, 148500
  • KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
  • PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER
  • Hyperkeratosis, diffuse palmoplantar (tylosis)
  • Howel-Evans syndrome
  • Focal keratoderma
  • tylosis with oesophageal cancer
  • oral leukokeratosis
Green RHBDF2 in Ichthyosis and erythrokeratoderma


Version 3.22
Latest signed off version: v3.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Tylosis with esophageal cancer, OMIM:148500
Green RHBDF2 in Palmoplantar keratodermas


Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tylosis with esophageal cancer
Amber RHBDF2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pneumonia
  • Colitis
  • Immunodeficiency