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  3. FKBP14
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Kyphoscoliotic Ehlers-Danlos syndrome

Gene: FKBP14

Green List (high evidence)
FKBP14 (FK506 binding protein 14)
EnsemblGeneIds (GRCh38): ENSG00000106080
EnsemblGeneIds (GRCh37): ENSG00000106080
OMIM: 614505, Gene2Phenotype
FKBP14 is in 9 panels

2 reviews

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 May 2016, 7:29 a.m.

Panel version: 0.2

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to expert review and evidence. It is a confirmed DD gene for Ehlers-Danlose syndrome with progressive kyphoscoliosis myopathy, and hearing loss. More than 3 cases reported in OMIM, with reports for three different variants.
Created: 6 Jun 2016, 3:16 p.m.
Mode of inheritance sourced from OMIM.
Created: 11 Jan 2016, 11:38 a.m.
Created: 11 Jan 2016, 11:38 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557
OMIM
614505
Clinvar variants
Variants in FKBP14
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FKBP14 was created by ellenmcdonagh

11 Jan 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FKBP14 was added to Kyphoscoliotic Ehlers-Danlos syndromepanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Other