PanelApp
  1. Genes and Genomic Entities
  2. FKBP10

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 0.239

1 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 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FKBP10 in Mendeliome


    Version 1.3512

    		1 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 1.8

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • osteogenesis imperfecta type 11 MONDO:0012592
    • Bruck syndrome MONDO:0017195

    Green FKBP10 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 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 0.110

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

    Green FKBP10 in Fetal anomalies


    Version 1.465

    		1 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 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bruck syndrome MIM#259450
    • osteogenesis imperfecta, type XI, MIM#610968

    Green FKBP10 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 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


    Level 2: Screening
    Version 0.20

    		0 reviews 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 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bruck syndrome 1, MIM#259450
    • osteogenesis imperfecta, type XI, MIM#610968