ASPRV1

aspartic peptidase retroviral like 1
OMIM: 611765, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ASPRV1 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, lamellar, autosomal dominant, MIM# 146750
  • palmoplantar keratoderma
  • lamellar ichthyosis

Green ASPRV1 in Mendeliome


Version 1.2302

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, lamellar, autosomal dominant, MIM# 146750
  • palmoplantar keratoderma
  • lamellar ichthyosis

Green ASPRV1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, lamellar, autosomal dominant, MIM# 146750
  • palmoplantar keratoderma
  • lamellar ichthyosis