Congenital muscular dystrophy and 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
-
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: FKBP14 was added gene: FKBP14 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP14 were set to 22265013 Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557 Penetrance for gene: FKBP14 were set to Complete