| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.341 | ALX1 | Eleanor Williams Added comment: Comment on list classification: Rating green due to association with FRONTONASAL DYSPLASIA TYPE 3. Other Frontonasal dysplasia genes ALX3 and ALX4 have been included on this panel. Including on the panel following the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.244 | ALX4 | Eleanor Williams commented on gene: ALX4: Comment from Tracy Lester - ALX4 should stay on the skeletal dysplasia panel in the absence of a specific craniofacial panel. It is currently green on the Craniosynostosis panel because GOF variants can have a craniosynostosis phenotype (https://panelapp.genomicsengland.co.uk/panels/168/gene/ALX4/). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | ALX4 | Eleanor Williams Added phenotypes Frontonasal dysplasia 2 613451 for gene: ALX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | ALX4 | Tracy Lester reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal dysplasia 2 613451; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | ALX4 | Eleanor Williams reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | ALX4 |
Eleanor Williams Source NHS GMS was added to ALX4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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