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Skeletal dysplasia v1.250 | IL11RA | Eleanor Williams commented on gene: IL11RA: Comment from Tracy Lester - IL11RA should stay on the skeletal dysplasia panel in the absence of a specific craniofacial panel. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly. Cases can have midface hypoplasia and other craniofacial signs without clinical CSS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.153 | IL11RA | Eleanor Williams Added phenotypes Craniosynostosis and dental anomalies 614188 for gene: IL11RA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | IL11RA | Tracy Lester reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: ; Publications: 21741611; Phenotypes: Craniosynostosis and dental anomalies 614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | IL11RA | Eleanor Williams reviewed gene: IL11RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | IL11RA |
Eleanor Williams Source NHS GMS was added to IL11RA. Rating Changed from Green List (high evidence) to Green List (high evidence) |