1. Genes and Genomic Entities
  2. PPIB

PPIB

peptidylprolyl isomerase B
OMIM: 123841, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PPIB in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Expert
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Osteogenesis imperfecta, type IX 259440
    • Osteogenesis imperfecta, type IX 259440
    Green PPIB in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Osteogenesis imperfecta, type IX 259440
    Green PPIB in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Osteogenesis imperfecta, type IX, 259440
    • Osteogenesis Imperfecta, Recessive
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • Osteogenesis Imperfecta Types VII, VIII And IX
    Green PPIB in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type IX, 259440