PPIB

peptidylprolyl isomerase B
OMIM: 123841, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green PPIB in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.239

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green PPIB in Mendeliome


Version 1.3512

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type IX, MIM# 259440

Green PPIB in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 1.8

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type IX, MIM# 259440

Amber PPIB in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Optic atrophy (MONDO:0003608), PPIB-related
    Tags
    • founder

    Green PPIB in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

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

    Green PPIB in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Osteogenesis imperfecta, type IX, #259440

    Green PPIB in Fetal anomalies


    Version 1.465

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Osteogenesis imperfecta, type IX, MIM# 259440

    Green PPIB in Prepair 1000+


    Level 2: Screening
    Version 2.14

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Osteogenesis imperfecta, type IX MIM#259440

    Red PPIB in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type IX, MIM# 259440
    Tags
    • skeletal

    Green PPIB in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Osteogenesis imperfecta, type IX, MIM# 259440