1. Genes and Genomic Entities
  2. PLCB3

PLCB3

phospholipase C beta 3
OMIM: 600230, Gene2Phenotype

1 panel

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

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