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Ehlers Danlos syndrome with a likely monogenic cause v2.33 FKBP14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557;Kyphoscoliotic EDS;kEDS-FKBP14;EDS VI;EDS VIA;Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Ehlers Danlos syndrome with a likely monogenic cause v2.33 FKBP14 Ivone Leong Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Ehlers Danlos syndrome with a likely monogenic cause v1.43 FKBP14 Duncan Baker reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 FKBP14 Eleanor Williams reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 FKBP14 Eleanor Williams Source NHS GMS was added to FKBP14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.40 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA to Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Angela Brady reviewed FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Neeti Ghali reviewed FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14