17q21.3 recurrent region (includes KANSL1) Loss
GMS Musculoskeletal test group informed of amber rating at Webex. No objections.
Created: 17 Sep 2019, 12:33 p.m. | Last Modified: 17 Sep 2019, 12:33 p.m.
Panel Version: 1.133
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
Created: 6 May 2019, 11:04 a.m.
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. Five 17q21.31 deletion patients with phenotypes that include brachycephaly, dolichocephaly, scaphocephaly, positional plagiocephaly.
Created: 16 Apr 2019, 1:33 p.m.
Review on behalf of Tracy Lester and Andrew Wilkie: Zollino report 2 cases with scaphocephaly or sagittal CSS.
Created: 16 Apr 2019, 1:13 p.m.
This region was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Region submitted: KANSL - del (17q21.21); Suggested initial rating: amber
Created: 16 Apr 2019, 1:09 p.m.
Koolen-de Vries/KANSL haploinsufficiency syndrome.
Mode of inheritance for Region: ISCA-37420-Loss was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37420-Loss were changed from to Koolen-de Vries/KANSL haploinsufficiency syndrome.
Publications for Region: ISCA-37420-Loss were set to
Region: isca-37420-loss has been classified as Amber List (Moderate Evidence).
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