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 0.225

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 0.416

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

Green FKBP10 in Mendeliome


Version 1.2302

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 1.0

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 0.302

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 1.313

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 1.1566

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 BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

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 1.5

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