Ehlers Danlos syndromes

Gene: FKBP14

Green List (high evidence)

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

9 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557;Kyphoscoliotic EDS;kEDS-FKBP14;EDS VI;EDS VIA;Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Created: 18 Mar 2021, 1:53 p.m. | Last Modified: 18 Mar 2021, 1:53 p.m.
Panel Version: 2.33

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FKBP14; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on publications: Numerous cases. Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225) : To date, 10 patients with kEDS-FKBP14 from nine independent families have been described: Five pediatric (<12 years), three adolescents (16 years), and two adults (42- and 48-year-old). Baumann et al., 2012 (PMID:22265013), Aldeeri et al., 2014 (PMID:24773188), Murray et al., 2014 (PMID:24677762), Alazami et al., 2016 (PMID:27023906), Dordoni et al., 2016 (PMID:27149304). Sufficient clinical data are available for nine unrelated patients.
Created: 18 Apr 2017, 11:53 a.m.
From Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225):
Recently, a number of rare autosomal recessive entities with distinct molecular and biochemical abnormalities that clinically overlap with kEDS have been described; kEDS due to PLOD1 mutations, kEDS due to FKBP14 mutations, the Brittle cornea syndrome (BCS) (ZNF469 and PRDM5), the spondylodysplastic form of EDS caused by SLC39A13 mutations (previously called spondylocheirodysplastic EDS), and musculocontractural EDS (CHST14 and DSE).
Created: 18 Apr 2017, 11:40 a.m.
This gene is listed in the Ehlers Danlos Syndrome Variant Database https://eds.gene.le.ac.uk/home.php?select_db=FKBP14
Created: 18 Apr 2017, 11:38 a.m.
In relation to the EDS pathogenetic scheme, FKBP14 belongs to 'Disorders of collagen folding and collagen cross-linking'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.
Created: 18 Apr 2017, 11:38 a.m.
Comment on publications: Updated phenotypes in view of current nomenclature in OMIM and recent papers on EDS classification : The 2017 International Classification of the Ehlers–Danlos Syndromes. Malfait et al., 2017 (PMID:28306229) and Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225).
Created: 18 Apr 2017, 11:34 a.m.
This is a rare recessive form of EDS
Created: 30 Mar 2017, 11:22 a.m.

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen Thomas (Genomics England Curator)

Comment on list classification: Rare recessive form of EDS
Created: 8 Apr 2016, 3:21 p.m.

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
OMIM
614505
Clinvar variants
Variants in FKBP14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FKBP14. Rating Changed from Green List (high evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA to Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

18 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FKBP14 were set to 28306229; 28306225;22265013;24773188;24677762;27023906;27149304

18 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FKBP14 were set to 28306229;28306225

18 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FKBP14 were set to Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA

30 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FKBP14 were set to Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS (kEDS-FKBP14);EDS VI;EDS VIA

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FKBP14 was added to Ehlers-Danlos syndromespanel. Source: Other

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FKBP14 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory,Expert Review Green

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FKBP14 was created by ellenmcdonagh