Congenital myopathy

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

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,

Publications

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: 5 separate families with frameshift insertion / deletion mutations. The initial presentation for all cases was with marked congenital hypotonia and delayed motor milestones, therefore considered appropriate as a mimic of congenital myopathy. Later developed kyphoscoliosis.
Created: 3 Feb 2017, 11:58 a.m.
Comment on list classification: 5 separate families with frameshift insertion / deletion mutations. The initial presentation for all cases was with marked congenital hypotonia and delayed motor milestones, therefore considered appropriate as a mimic of congenital myopathy. Later developed kyphoscoliosis.
Created: 3 Feb 2017, 11:58 a.m.
PMID above contains 5 separate families with frameshift insertion / deletion mutations. The initial presentation for all cases was with marked congenital hypotonia and delayed motor milestones, therefore considered appropriate as a mimic of congenital myopathy. Later developed kyphoscoliosis.
Created: 30 Jan 2017, 4:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 614557

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557
OMIM
614505
Clinvar variants
Variants in FKBP14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

3 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for FKBP14 were set to 22265013

3 Feb 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for FKBP14 was changed to BIALLELIC, autosomal or pseudoautosomal

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FKBP14 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen