Congenital myopathy
Gene: FKBP14EnsemblGeneIds (GRCh38): ENSG00000106080
EnsemblGeneIds (GRCh37): ENSG00000106080
OMIM: 614505, Gene2Phenotype
FKBP14 is in 9 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,
Publications
Helen Brittain (Genomics England Curator)
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
- PMID 22265013
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
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
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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for FKBP14 were set to 22265013
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for FKBP14 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()FKBP14 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen