| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.21 | FGFR2 | chirag patel Marked gene: FGFR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.21 | FGFR2 | chirag patel Gene: fgfr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.21 | FGFR2 | chirag patel Publications for gene: FGFR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.20 | FGFR2 | chirag patel Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.0 | FGFR2 | Gene migrated from ENSG00000066468 to ENSG00000066468 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | FGFR2 |
Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGFR2 were set to Craniosynostosis, nonspecific Crouzon syndrome 123500; Pfeiffer syndrome 101600; Beare-Stevenson cutis gyrata syndrome 123790; Apert syndrome 101200; Gastric cancer, somatic 613659; Craniofacial-skeletal-dermatologic dysplasia 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Bent bone dysplasia syndrome 614592; Jackson-Weiss syndrome 123150; LADD syndrome 149730 |
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