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 1.15

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


Level 2: Dermatology
Version 4.12
Latest signed off version: v4.0 (30 Apr 2025)

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