Hand and foot malformations
Gene: DLL4
DLL4 (delta like canonical Notch ligand 4)
EnsemblGeneIds (GRCh38): ENSG00000128917
EnsemblGeneIds (GRCh37): ENSG00000128917
OMIM: 605185, Gene2Phenotype
DLL4 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000128917
EnsemblGeneIds (GRCh37): ENSG00000128917
OMIM: 605185, Gene2Phenotype
DLL4 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 4:41 a.m. | Last Modified: 9 Nov 2021, 4:41 a.m.
Panel Version: 0.55
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adams-Oliver syndrome 6 MIM#616589
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Adams-Oliver syndrome 6, 616589
- OMIM
- 605185
- Clinvar variants
- Variants in DLL4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
9 Nov 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dll4 has been classified as Green List (High Evidence).
9 Nov 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DLL4 were set to
22 Sep 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DLL4 was added gene: DLL4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6, 616589