EXPH5

exophilin 5
OMIM: 612878, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green EXPH5 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
  • Epidermolysis bullosa simplex
Green EXPH5 in Epidermolysis bullosa and congenital skin fragility


Version 2.7
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028
Amber EXPH5 in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INHERITED SKIN FRAGILITY
Green EXPH5 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • INHERITED SKIN FRAGILITY 615028