Congenital myopathy
Gene: FKBP14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,
Publications
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
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
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
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.
This gene has been classified as Green List (High Evidence).
Publications for FKBP14 were set to 22265013
Mode of inheritance for FKBP14 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
FKBP14 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen