FKBP14

FK506 binding protein 14
OMIM: 614505, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green FKBP14 in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557

Green FKBP14 in Thoracic aortic aneurysm and dissection


Version 1.23
Latest signed off version: v1.2 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
  • South West GLH
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557

Red FKBP14 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.123

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert Review Red
  • Expert list

Red FKBP14 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,

Green FKBP14 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.89
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557

    Green FKBP14 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.65
    Latest signed off version: v2.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Other
    • Emory Genetics Laboratory
    • Expert list
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557

    Green FKBP14 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS

    Green FKBP14 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS

    Red FKBP14 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,
    • Ehlers Danlossyndromewithprogressivekyphoscoliosis,myopathy,andhearingloss,614557

    Red FKBP14 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557

    Green FKBP14 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557