1. Genes and Genomic Entities
  2. FKBP10

FKBP10

FK506 binding protein 10
OMIM: 607063, Gene2Phenotype

6 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 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
    • 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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BRUCK SYNDROME TYPE 1
    Green FKBP10 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bruck syndrome 1, 259450
    • Osteogenesis imperfecta, type XI, 610968