KDF1

keratinocyte differentiation factor 1
OMIM: 616758, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber KDF1 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, OMIM:617337
  • ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, MONDO:0015024
Tags
  • Q3_25_promote_green