| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1594 | FGFR2 | Zornitza Stark Marked gene: FGFR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1594 | FGFR2 | Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1594 | FGFR2 | Zornitza Stark Phenotypes for gene: FGFR2 were changed from JACKSON-WEISS SYNDROME; FAMILIAL SCAPHOCEPHALY SYNDROME; CROUZON SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; BEARE-STEVENSON CUTIS GYRATA SYNDROME; ACROCEPHALOSYNDACTYLY TYPE V; APERT SYNDROME; ANTLEY-BIXLER SYNDROME to LADD syndrome, MIM#149730; Apert syndrome, MIM# 101200; Crouzon syndrome, MIM# 123500; Jackson-Weiss syndrome, MIM# 123150; Pfeiffer syndrome, MIM# 101600; Saethre-Chotzen syndrome, MIM# 101400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1593 | FGFR2 | Zornitza Stark Mode of inheritance for gene: FGFR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1592 | FGFR2 |
Zornitza Stark changed review comment from: Well established gene-disease association. Radial ray abnormalities are a feature of LADD syndrome. Sources: Expert list; to: Well established gene-disease association with multiple craniosynostosis syndromes. Radial ray abnormalities are a feature of LADD syndrome. Sources: Expert list |
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| Fetal anomalies v0.1592 | FGFR2 | Zornitza Stark edited their review of gene: FGFR2: Changed phenotypes: LADD syndrome, MIM#149730, Apert syndrome, MIM# 101200, Crouzon syndrome, MIM# 123500, Jackson-Weiss syndrome, MIM# 123150, Pfeiffer syndrome, MIM# 101600, Saethre-Chotzen syndrome, MIM# 101400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FGFR2 |
Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGFR2 were set to 28425981 Phenotypes for gene: FGFR2 were set to JACKSON-WEISS SYNDROME; FAMILIAL SCAPHOCEPHALY SYNDROME; CROUZON SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; BEARE-STEVENSON CUTIS GYRATA SYNDROME; ACROCEPHALOSYNDACTYLY TYPE V; APERT SYNDROME; ANTLEY-BIXLER SYNDROME |
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