| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe Paediatric Disorders v0.17 | FGFR2 | Louise Daugherty Mode of inheritance for gene FGFR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | FGFR2 | Louise Daugherty reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | FGFR2 | Louise Daugherty Publications for gene FGFR2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | FGFR2 | Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FGFR2 | Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | FGFR2 | Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | FGFR2 | Louise Daugherty Added phenotypes Jackson-Weiss syndrome, 123150; Beare-Stevenson cutis gyrata syndrome, 123790; Craniosynostosis, nonspecific; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Saethre-Chotzen syndrome, 101400; Crouzon syndrome, 123500; LADD syndrome, 149730; Bent bone dysplasia syndrome, 614592; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Pfeiffer syndrome, 101600; Apert syndrome, 101200; Craniofacial-skeletal-dermatologic dysplasia, 101600; Scaphocephaly and Axenfeld-Rieger anomaly for gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | FGFR2 | Louise Daugherty Source Next Generation Children Project was added to FGFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | FGFR2 |
Louise Daugherty Source Expert Review Green was added to FGFR2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | FGFR2 |
Louise Daugherty gene: FGFR2 was added gene: FGFR2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FGFR2 was set to |
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