Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Fetal anomalies v0.595 | COL9A2 | Zornitza Stark Marked gene: COL9A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.595 | COL9A2 | Zornitza Stark Gene: col9a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.595 | COL9A2 | Zornitza Stark Phenotypes for gene: COL9A2 were changed from STICKLER SYNDROME, TYPE V; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 to Stickler syndrome, type V, MIM# 614284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.594 | COL9A2 | Zornitza Stark Publications for gene: COL9A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.593 | COL9A2 | Zornitza Stark Mode of inheritance for gene: COL9A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.592 | COL9A2 | Zornitza Stark reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | COL9A2 |
Zornitza Stark gene: COL9A2 was added gene: COL9A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 |