1. Genes and Genomic Entities
  2. PPIB

PPIB

peptidylprolyl isomerase B
OMIM: 123841, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber PPIB in Optic neuropathy


Level 2: Ophthalmology
Version 5.54
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • optic atrophy, MONDO:0003608
Green PPIB in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.40
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

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


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		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