FKBP14

FK506 binding protein 14
OMIM: 614505, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green FKBP14 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557
Green FKBP14 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557
Green FKBP14 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800
Green FKBP14 in Multiple joint dislocations and laxity Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS 614557
Green FKBP14 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)
Green FKBP14 in Ehlers Danlos syndromes Level 2: Cardiovascular disorders Version 1.3	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list International EDS Consortium Expert Review Green Phenotypes Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 Kyphoscoliotic EDS
Green FKBP14 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557
Green FKBP14 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)