Congenital Heart Defect
Gene: DLL4

DLL4 (delta like canonical Notch ligand 4)
EnsemblGeneIds (GRCh38): ENSG00000128917
EnsemblGeneIds (GRCh37): ENSG00000128917
OMIM: 605185, Gene2Phenotype
DLL4 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot.

More than 10 unrelated families reported, animal model.
Created: 9 Nov 2021, 4:38 a.m. | Last Modified: 9 Nov 2021, 4:38 a.m.

Panel Version: 0.139

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 6 MIM#616589

Publications

Created: 9 Nov 2021, 4:38 a.m.
Last Modified: 9 Nov 2021, 4:38 a.m.
Panel version: 0.139

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Adams-Oliver syndrome 6 MIM#616589

OMIM

605185

Clinvar variants

Variants in DLL4

Penetrance

None

Publications

Panels with this gene