Amber - 17q21.31del. Zollino report 2 cases with scaphocephaly or sagittal CSS ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Koolen-de Vries/KANSL haploinsufficiency syndrome.
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 gene 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.
Created: 10 Apr 2019, 3:45 p.m.
This gene 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; Gene symbol submitted: KANSL; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
Gene: kansl1-as1 has been removed from the panel.
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