PLCB3

phospholipase C beta 3
OMIM: 600230, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red PLCB3 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Spondylometaphyseal dysplasia with corneal dystrophy OMIM:618961
    • spondylometaphyseal dysplasia with corneal dystrophy MONDO:0030074