Craniosynostosis

Gene: KANSL1-AS1

No list

KANSL1-AS1 (KANSL1 antisense RNA 1)
EnsemblGeneIds (GRCh38): ENSG00000214401
EnsemblGeneIds (GRCh37): ENSG00000214401
KANSL1-AS1 is in 1 panel

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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.

Phenotypes
Koolen-de Vries/KANSL haploinsufficiency syndrome.

Eleanor Williams (Genomics England Curator)

I don't know

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.

Details

Sources
  • Expert Review Removed
  • NHS GMS
Clinvar variants
Variants in KANSL1-AS1
Penetrance
None
Panels with this gene

History Filter Activity

10 Apr 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kansl1-as1 has been removed from the panel.

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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