PanelApp (test)
  1. Genes and Genomic Entities
  2. EXPH5:Ensemblv90

EXPH5:Ensemblv90

exophilin 5
OMIM: 612878, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green EXPH5 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.22

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 1.3802

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 1.482

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

Green EXPH5 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 2.0

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