| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.23 | KANSL1-AS1 | Arina Puzriakova Tag curated_removed tag was added to gene: KANSL1-AS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.49 | KANSL1-AS1 | Eleanor Williams Classified gene: KANSL1-AS1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.49 | KANSL1-AS1 | Eleanor Williams Added comment: Comment on list classification: Removing this gene from the panel. Incorrectly added from list that Tracy Lester sent. Gene should have been KANSL1 - ENSG00000120071, but this is part of a larger duplication in one family so waiting for discussion with clinical team about how to best represent this on the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.49 | KANSL1-AS1 | Eleanor Williams Gene: kansl1-as1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | KANSL1-AS1 | Tracy Lester reviewed gene: KANSL1-AS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Koolen-de Vries/KANSL haploinsufficiency syndrome.; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | KANSL1-AS1 | Eleanor Williams reviewed gene: KANSL1-AS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | KANSL1-AS1 |
Eleanor Williams gene: KANSL1-AS1 was added gene: KANSL1-AS1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: KANSL1-AS1 was set to |
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