FKBP10

FK506 binding protein 10
OMIM: 607063, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green FKBP10 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bruck syndrome 1 259450
Green FKBP10 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
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
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta, Recessive
    • Brucks syndrome 1 - 259450
    • Osteogenesis imperfecta, type XI, 610968
    • Brucks syndrome
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Green FKBP10 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bruck syndrome 1, OMIM:259450
    • Bruck syndrome 1, MONDO:0009806
    • Osteogenesis imperfecta, type XI, OMIM:610968
    • Osteogenesis imperfecta type 11, MONDO:0012592
    Green FKBP10 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Osteogenesis imperfecta, type XI, 610968
    • Osteogenesis Imperfecta, Recessive
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Green FKBP10 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BRUCK SYNDROME TYPE 1