1. Genes and Genomic Entities
  2. FKBP14

FKBP14

FK506 binding protein 14
OMIM: 614505, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green FKBP14 in Other rare neuromuscular disorders


Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

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 or dissection (GMS)


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

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 1.127

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 5.29
Latest signed off version: v5.0 (22 Mar 2023)

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 4.37
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
    Green FKBP14 in Ehlers Danlos syndrome with a likely monogenic cause

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 3.12
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    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 Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 1.184

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