1. Panels
  2. Arthrogryposis
  3. FKBP14
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: FKBP14

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

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: No known association with arthrogryposis
Created: 4 Jan 2017, 4:41 p.m.
Created: 4 Jan 2017, 4:41 p.m.

Panel version: 1.211

Details

Mode of Inheritance
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,
OMIM
614505
Clinvar variants
Variants in FKBP14
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FKBP14 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FKBP14 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FKBP14 was created by ellenmcdonagh