FKBP14

FK506 binding protein 14
OMIM: 614505, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green FKBP14 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.105

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557

Green FKBP14 in Mendeliome


Version 1.4541

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557

Green FKBP14 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.121

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    Phenotypes
    • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800

    Green FKBP14 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)

    Green FKBP14 in Fetal anomalies


    Version 1.542

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557

    Green FKBP14 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557