| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Choanal atresia v0.9 | FGFR3 | Zornitza Stark Marked gene: FGFR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.9 | FGFR3 | Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.9 | FGFR3 | Zornitza Stark Publications for gene: FGFR3 were set to 20199409; 17935505; 11426459 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.8 | FGFR3 | Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31016899, 11426459; Phenotypes: Crouzon syndrome with acanthosis nigricans 612247; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.1 | FGFR3 |
Zornitza Stark Source Genomics England PanelApp was added to FGFR3. Added phenotypes Crouzon syndrome with acanthosis nigricans 612247 for gene: FGFR3 Publications for gene FGFR3 were updated from 11426459; 17935505; 20199409 to 20199409; 17935505; 11426459 |
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| Choanal atresia v0.0 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to Choanal atresia. Sources: UKGTN,Eligibility statement prior genetic testing,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR3 were set to 11426459; 17935505; 20199409 Phenotypes for gene: FGFR3 were set to Crouzon syndrome with acanthosis nigricans 612247 |
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