FKBP14

FK506 binding protein 14
OMIM: 614505, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green FKBP14 in Neuromuscular disorders Version 5.352 Latest signed off version: v5.43 (4 Mar 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Green FKBP14 in Thoracic aortic aneurysm and dissection Version 1.23 Latest signed off version: v1.2 (19 Feb 2020)	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 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert Review Red Expert list
Red FKBP14 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.161 Latest signed off version: v3.2 (13 Feb 2020)	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 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 2.89 Latest signed off version: v2.2 (2 Mar 2020) Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	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
Green FKBP14 in Ehlers Danlos syndromes Level 3: Connective tissues disorders Level 2: Rheumatological disorders Version 2.65 Latest signed off version: v2.3 (4 Mar 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Other Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Green FKBP14 in Fetal anomalies Version 1.900 Latest signed off version: v1.92 (21 Aug 2020)	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 2.76 Latest signed off version: v2.2 (13 Feb 2020) 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 Hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 2.247 Latest signed off version: v2.5 (13 Feb 2020)	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 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1659 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	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
Green FKBP14 in Severe Paediatric Disorders Version 1.127	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557