PanelApp
  1. Genes and Genomic Entities
  2. FKBP14

FKBP14

FK506 binding protein 14
OMIM: 614505, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green FKBP14 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.100

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 1.3512

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 1.108

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 Multiple joint dislocations and laxity

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.9

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS 614557

    Green FKBP14 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
    • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)

    Green FKBP14 in Fetal anomalies


    Version 1.465

    		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 2.14

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