FKBP14

FK506 binding protein 14
OMIM: 614505, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green FKBP14 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH South West GLH Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557
Red FKBP14 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert Review Red Expert list
Red FKBP14 in Arthrogryposis Level 2: Neurology Version 9.31 Latest signed off version: v9.0 (30 Apr 2025)	review	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,
Green FKBP14 in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Green FKBP14 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Other Expert list Radboud University Medical Center, Nijmegen Expert Review Green Emory Genetics Laboratory Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Green FKBP14 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Green FKBP14 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Red FKBP14 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, Ehlers Danlossyndromewithprogressivekyphoscoliosis,myopathy,andhearingloss,614557
Red FKBP14 in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557