Clefting
Gene: KANSL1

KANSL1 (KAT8 regulatory NSL complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000120071
EnsemblGeneIds (GRCh37): ENSG00000120071
OMIM: 612452, Gene2Phenotype
KANSL1 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

PMID 20301783 report that cleft lip/palate seen in less than 10 percent of KVP cases. By Sanger sequencing of the KANSL1 gene in 16 individuals, Koolen et al., 2012 (PMID 22544363) identified de novo heterozygous truncating mutations in KANSL1 in 2 patients - 1 patient had additional features including cleft lip palate. Therefore clefting is not a key feature of the condition. Rated red as agreed with Helen Brittain.
Created: 31 May 2017, 11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Koolen-De Vries syndrome, 610443; KDVS

Publications

Created: 31 May 2017, 11 a.m.

Panel version: 0.284

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

Koolen-De Vries syndrome, 610443
KDVS

OMIM

612452

Clinvar variants

Variants in KANSL1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KANSL1 was created by ellenmcdonagh