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| Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 | ISCA-37420-Loss | Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from Koolen-de Vries/KANSL haploinsufficiency syndrome. to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.67 | ISCA-37420-Loss | Arina Puzriakova commented on Region: ISCA-37420-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.67 | ISCA-37420-Loss |
Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514. Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60. |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.4 | ISCA-37420-Loss | Catherine Snow Mode of inheritance for Region: ISCA-37420-Loss was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.133 | ISCA-37420-Loss | Eleanor Williams commented on Region: ISCA-37420-Loss: GMS Musculoskeletal test group informed of amber rating at Webex. No objections. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.78 | ISCA-37420-Loss | Eleanor Williams Phenotypes for Region: ISCA-37420-Loss were changed from to Koolen-de Vries/KANSL haploinsufficiency syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.77 | ISCA-37420-Loss | Eleanor Williams Publications for Region: ISCA-37420-Loss were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.68 | ISCA-37420-Loss | Eleanor Williams Classified Region: ISCA-37420-Loss as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.68 | ISCA-37420-Loss | Eleanor Williams Added comment: Comment on list classification: Upgrading from red to amber as some evidence of association of the CNV loss with craniosynostosis. Will discuss on Webex with GMS Musculoskeletal test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.68 | ISCA-37420-Loss | Eleanor Williams Region: isca-37420-loss has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.53 | ISCA-37420-Loss | Eleanor Williams edited their review of Region: ISCA-37420-Loss: Added comment: Review on behalf of Tracy Lester and Andrew Wilkie: Zollino report 2 cases with scaphocephaly or sagittal CSS.; Changed rating: AMBER; Changed phenotypes: Koolen-de Vries/KANSL haploinsufficiency syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.53 | ISCA-37420-Loss | Eleanor Williams commented on Region: ISCA-37420-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.53 | ISCA-37420-Loss |
Eleanor Williams Region: ISCA-37420-Loss was added Region: ISCA-37420-Loss was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for Region: ISCA-37420-Loss was set to |
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