PanelApp (staging)
  1. Genes and Genomic Entities
  2. EXPH5

EXPH5

exophilin 5
OMIM: 612878, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EXPH5 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.20

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028

Green EXPH5 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028

Red EXPH5 in Fetal anomalies


Version 1.313

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM #615028