| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1592 | FGFR1 | Zornitza Stark Marked gene: FGFR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1592 | FGFR1 | Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1592 | FGFR1 | Zornitza Stark Phenotypes for gene: FGFR1 were changed from Hartsfield syndrome; Encephalocraniocutaneous lipomatosis; OSTEOGLOPHONIC DYSPLASIA; KALLMANN SYNDROME TYPE 2; PFEIFFER SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM to Pfeiffer syndrome, MIM# 101600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1591 | FGFR1 | Zornitza Stark Mode of pathogenicity for gene: FGFR1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1590 | FGFR1 | Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FGFR1 |
Zornitza Stark gene: FGFR1 was added gene: FGFR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR1 were set to Hartsfield syndrome; Encephalocraniocutaneous lipomatosis; OSTEOGLOPHONIC DYSPLASIA; KALLMANN SYNDROME TYPE 2; PFEIFFER SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM |
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