KLK4

kallikrein related peptidase 4
OMIM: 603767, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green KLK4 in Amelogenesis imperfecta


Level 2: Musculoskeletal
Version 4.30
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type IIA1, 204700
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700