Craniosynostosis

Gene: KANSL1

Red List (low evidence)

KANSL1 (KAT8 regulatory NSL complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000120071
EnsemblGeneIds (GRCh37): ENSG00000120071
OMIM: 612452, Gene2Phenotype
KANSL1 is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on publications: Zollino et al 2015 - PMID:26424144
Dubourg et al 2011 - PMID:21094706
Tan et al 2009 - PMID: 19447831
Created: 14 May 2019, 11:14 a.m.
Comment on list classification: No evidence that variants in KANSL1 cause craniosynostosis, however reports that 17q21.21 deletions covering KANSL1 are associated with craniosynostosis
Created: 14 May 2019, 11 a.m.

Details

Sources
  • Expert Review Red
Phenotypes
  • Koolen-de Vries/KANSL haploinsufficiency syndrome.
OMIM
612452
Clinvar variants
Variants in KANSL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: KANSL1 were set to

14 May 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kansl1 has been classified as Red List (Low Evidence).

11 May 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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.