PHLDB1

pleckstrin homology like domain family B member 1
OMIM: 612834, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber PHLDB1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Osteogenesis imperfecta, type XXIII, OMIM:620639