| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Choanal atresia v0.8 | FGFR2 | Zornitza Stark Marked gene: FGFR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.8 | FGFR2 | Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.8 | FGFR2 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.8 | FGFR2 | Zornitza Stark commented on gene: FGFR2: Choanal atresia/stenosis is a feature of several FGFR2-related disorders. Disease associations are well established. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.8 | FGFR2 | Zornitza Stark reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Apert syndrome 101200, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Craniosynostosis, nonspecific, Pfeiffer syndrome 101600, Craniofacial-skeletal-dermatologic dysplasia 101600, Beare-Stevenson cutis gyrata syndrome 123790; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.1 | FGFR2 |
Zornitza Stark Source Genomics England PanelApp was added to FGFR2. Added phenotypes Apert syndrome 101200; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Craniosynostosis, nonspecific; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Beare-Stevenson cutis gyrata syndrome 123790 for gene: FGFR2 |
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| Choanal atresia v0.0 | FGFR2 |
Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to Choanal atresia. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGFR2 were set to Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Apert syndrome 101200; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Beare-Stevenson cutis gyrata syndrome 123790; Craniosynostosis, nonspecific |
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