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Hearing loss

Gene: FKBP14

Red List (low evidence)

FKBP14 (FK506 binding protein 14)
EnsemblGeneIds (GRCh38): ENSG00000106080
EnsemblGeneIds (GRCh37): ENSG00000106080
OMIM: 614505, Gene2Phenotype
FKBP14 is in 11 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#614557:Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss[Retrogenia in infancy (in some patients); Hearing loss, high-frequency sensorineural; Myopia (in most patients)Bluish sclerae in infancy (rare); Cleft soft palate (in some patients); Insufficiency of tricuspid valve (in some patients)Insufficiency of mitral valve (rare); Patent ductus arteriosus (in some patients)Aortic rupture (rare); Restrictive ventilation disorder due to severe scoliosis (in some patients); Umbilical hernia (in some patients)Redundant umbilical skin (in some patients)Inguinal hernia (in some patients); Inguinal hernia (in some patients); Bladder diverticulum (in some patients); Hypermobility of large and small joints (Beighton score ranging from 6/9 to 9/9)Dislocations, recurrent (rare)Osteopenia, mild to moderateFractures (rare); Kyphoscoliosis, progressive; Hypermobility of large joints; Hypermobility of small joints; Hypermobility of small jointsPes planusClub foot (in some patients); Hyperelastic skinSoft skinPlantar softnessFollicular hyperkeratosisEasy bruising (in some patients)Hypertrophic scarring (rare); Endoplasmic reticulum cisterns dilated and filled with flocculent material in skin fibroblastsCollagen fibrils normal in shape and diameter; Severe muscle hypotonia at birthPoor head control in infancyMuscular weakness, improving in infancy (Medical Research Council muscle score of 3 to 4)Muscular atrophyMyopathy, mild to severeIncreased variation in muscle fiber diameterProliferation of fatty tissue in muscle (in some patients)Muscle fiber atrophy, profound (rare); Delayed motor developmentWalking independently at 2.5 years to 4 years of age; Decreased movements in utero (in some patients); Normal pyridinoline excretion in urine]

Publications

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,
  • Ehlers Danlossyndromewithprogressivekyphoscoliosis,myopathy,andhearingloss,614557
OMIM
614505
Clinvar variants
Variants in FKBP14
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FKBP14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen