PLCB3:Ensemblv90

phospholipase C beta 3
OMIM: 600230, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PLCB3 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.13

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961

Red PLCB3 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961

Red PLCB3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961

Red PLCB3 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961