EMP2:Ensemblv90

epithelial membrane protein 2
OMIM: 602334, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber EMP2 in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 1.23

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ichthyosis, MONDO:0019269, EMP2-related

Amber EMP2 in Mendeliome


Version 1.3802

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • nephrotic syndrome, type 10 MONDO:0014373
  • Ichthyosis, MONDO:0019269, EMP2-related

Amber EMP2 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.231

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • nephrotic syndrome, type 10 MONDO:0014373

    Amber EMP2 in Ichthyosis and Porokeratosis


    Level 2: Dermatological disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Ichthyosis, MONDO:0019269, EMP2-related

    Amber EMP2 in Proteinuria


    Level 2: Renal and urinary tract disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    Phenotypes
    • nephrotic syndrome, type 10 MONDO:0014373