FKBP14

FK506 binding protein 14
OMIM: 614505, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green FKBP14 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	1 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 1.2302	1 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 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	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	1 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	0 reviews	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 Fetal anomalies Version 1.313	2 reviews	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 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)