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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.170 | KANSL1 | Achchuthan Shanmugasundram reviewed gene: KANSL1: Rating: RED; Mode of pathogenicity: None; Publications: 26424144, 29093661, 36980886; Phenotypes: craniosynostosis, MONDO:0015469; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.76 | KANSL1 |
Eleanor Williams Added comment: Comment on publications: Zollino et al 2015 - PMID:26424144 Dubourg et al 2011 - PMID:21094706 Tan et al 2009 - PMID: 19447831 |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.76 | KANSL1 | Eleanor Williams Publications for gene: KANSL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.75 | KANSL1 | Eleanor Williams Classified gene: KANSL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.75 | KANSL1 | Eleanor Williams Added comment: Comment on list classification: No evidence that variants in KANSL1 cause craniosynostosis, however reports that 17q21.21 deletions covering KANSL1 are associated with craniosynostosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.75 | KANSL1 | Eleanor Williams Gene: kansl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | KANSL1 |
Eleanor Williams gene: KANSL1 was added gene: KANSL1 was added to Craniosynostosis. Sources: Mode of inheritance for gene: KANSL1 was set to Phenotypes for gene: KANSL1 were set to Koolen-de Vries/KANSL haploinsufficiency syndrome. |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.53 | ISCA-37420-Loss |
Eleanor Williams commented on Region: ISCA-37420-Loss: PMID: 26424144 - Zollino et al 2015 – 1 patient with craniosynostosis and 17q21.31 deletion (patient 28). Other patients with variants in KANSL1 but no craniosynostosis reported. PMID: 21094706 - Dubourg et al 2011 – report 2 patients with Scaphocephaly and 17q21.31 deletion PMID: 19447831 -Tan et al 2009 – KANSL1 called KIAA1267 in this paper. 5 patients with mixture of brachycephaly, dolichocephaly, scaphocephaly, positional plagiocephaly. |
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| 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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