| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.0 | FGFR1 | Gene migrated from ENSG00000077782 to ENSG00000077782 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | FGFR1 |
Zornitza Stark gene: FGFR1 was added gene: FGFR1 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: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Hartsfield syndrome 615465; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Encephalocraniocutaneous lipomatosis, somatic mosaism 613001; Jackson-Weiss syndrome 123150; Trigonocephaly 1 190440 |
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