ISCA-37417-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-37417-Loss Region in Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders
Version 1.14

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Ichthyosis, X-linked
  • 308100
Green ISCA-37417-Loss Region in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • 308100
  • Ichthyosis, X-linked