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Fetal anomalies v0.1285 FKBP14 Zornitza Stark Marked gene: FKBP14 as ready
Fetal anomalies v0.1285 FKBP14 Zornitza Stark Gene: fkbp14 has been classified as Green List (High Evidence).
Fetal anomalies v0.1285 FKBP14 Zornitza Stark Phenotypes for gene: FKBP14 were changed from EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557
Fetal anomalies v0.1284 FKBP14 Zornitza Stark Publications for gene: FKBP14 were set to
Fetal anomalies v0.1283 FKBP14 Zornitza Stark reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1241 FKBP14 Ain Roesley reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22265013, 24773188, 27149304, 31132235, 30561154, 28617417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 FKBP14 Zornitza Stark gene: FKBP14 was added
gene: FKBP14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS