Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: KANSL1
KANSL1 (KAT8 regulatory NSL complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000120071
EnsemblGeneIds (GRCh37): ENSG00000120071
OMIM: 612452, Gene2Phenotype
KANSL1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000120071
EnsemblGeneIds (GRCh37): ENSG00000120071
OMIM: 612452, Gene2Phenotype
KANSL1 is in 6 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
An additional 10 patients with KANSL1 haploinsufficiency syndrome were screened – 9 of these individuals had a 17q21.31 deletion and one harboured a de novo intragenic variant in KANSL1 (c.1652+2T>C; p.(Leu552Phefs*14)). One patient with a chromosome deletion in this cohort had sagittal craniosynostosis. Overall, craniosynostosis affected two out of 42 patients in this cohort (5%; including the paper published in 2015), both in association with 17q21.31 deletions (PMIDs: 26424144 & 29093661).Created: 24 Jul 2023, 11:08 a.m. | Last Modified: 24 Jul 2023, 11:08 a.m.
Panel Version: 4.170
Phenotypes
craniosynostosis, MONDO:0015469
Publications
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: 19447831Created: 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 craniosynostosisCreated: 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.