ENPP5

ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)
OMIM: 617001, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber ENPP5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.5
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Skeletal dysplasia