Holoprosencephaly and septo-optic dysplasia
Gene: DLL1

DLL1 (delta like canonical Notch ligand 1)
EnsemblGeneIds (GRCh38): ENSG00000198719
EnsemblGeneIds (GRCh37): ENSG00000198719
OMIM: 606582, Gene2Phenotype
DLL1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed nonspecific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia. Not specifically associated with HPE/SOD.
Created: 24 Aug 2020, 9:05 a.m. | Last Modified: 24 Aug 2020, 9:05 a.m.

Panel Version: 0.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709

Publications

31353024

Created: 24 Aug 2020, 9:05 a.m.
Last Modified: 24 Aug 2020, 9:05 a.m.
Panel version: 0.25

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709

OMIM

606582

Clinvar variants

Variants in DLL1

Penetrance

None

Publications

31353024

Panels with this gene