FKBP10

FK506 binding protein 10
OMIM: 607063, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green FKBP10 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

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

Green FKBP10 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FKBP10 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bruck syndrome 1, MONDO:0009806
    • Osteogenesis imperfecta, type XI, OMIM:610968
    • Osteogenesis imperfecta type 11, MONDO:0012592
    • Bruck syndrome 1, OMIM:259450

    Green FKBP10 in Osteogenesis Imperfecta and Osteoporosis


    Level 2: Skeletal disorders
    Version 0.114

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FKBP10 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Osteogenesis imperfecta, type XI, 610968
    • Brucks syndrome 1 - 259450
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • Osteogenesis Imperfecta, Recessive
    • Brucks syndrome

    Green FKBP10 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bruck syndrome 1, 259450 (3)

    Green FKBP10 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Bruck syndrome 1, MONDO:0009806
    • Osteogenesis imperfecta, type XI, OMIM:610968
    • Osteogenesis imperfecta type 11, MONDO:0012592
    • Bruck syndrome 1, OMIM:259450

    Green FKBP10 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bruck syndrome 1, 259450 (3)

    Green FKBP10 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type XI, OMIM:610968
    Tags
    • treatable
    • skeletal

    Green FKBP10 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Osteogenesis imperfecta, type XI, 610968

    Green FKBP10 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bruck syndrome 1, 259450 (3)