Blepharophimosis
Gene: KANSL1

KANSL1 (KAT8 regulatory NSL complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000120071
EnsemblGeneIds (GRCh37): ENSG00000120071
OMIM: 612452, Gene2Phenotype
KANSL1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures.

Well established gene-disease association, deletions common. Blepharophimosis is a feature in approx 1/3.
Created: 5 Jun 2021, 4:59 a.m. | Last Modified: 5 Jun 2021, 4:59 a.m.

Panel Version: 0.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Koolen-De Vries syndrome, MIM# 610443

Publications

Created: 5 Jun 2021, 4:59 a.m.
Last Modified: 5 Jun 2021, 4:59 a.m.
Panel version: 0.35

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Koolen-De Vries syndrome, MIM# 610443
MONDO:0012496

Tags

SV/CNV

OMIM

612452

Clinvar variants

Variants in KANSL1

Penetrance

None

Publications

Panels with this gene