CASP14

caspase 14
OMIM: 605848, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber CASP14 in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 1.23

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 12 MIM#617320

Amber CASP14 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 12 MIM#617320