DLL4 delta like canonical Notch ligand 4
- Ventricular septal defect
- Tetralogy of fallot
- Truncus arteriosus
- Absent pulmonary valve
Extra Cardiac Phenotype
Aplasia congenita cutis of the scalp vertex , Bilateral hypoplasia of optic nerves , Hepatic fibrosis, Portal hypertension , Congenital splenomegaly , Esophageal varices, Small kidneys , Skull defect, Brachydactyly, Symphalangism, Brachydactyly, Syndactyly , Brachysyndactyly, Symbrachydactyly, Missing toes , Club feet , Scalp defect, Bald area on scalp, Cutis marmorata , Hypoplastic toenails, Leukomalacia, Microcephaly , Cognitive impairment , Oesophageal varices , Absent portal vein with portal hypertension , Epilepsy , Learning difficulties, congenital liver fibrosis
Heterozygous and homozygous null mice have cardiovascular defects.
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for DLL4: BED file
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- Meester, J. A. N., Sukalo, M., Schröder, K. C., Schanze, D., Baynam, G., Borck, G., … Wuyts, W. (2018). Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. Human Mutation, 39(9), 1246–1261. DOI:10.1002/humu.23567 PMID:29924900
- Meester, J. A. N., Southgate, L., Stittrich, A.-B., Venselaar, H., Beekmans, S. J. A., den Hollander, N., … Wuyts, W. (2015). Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. The American Journal of Human Genetics, 97(3), 475–482. DOI:10.1016/j.ajhg.2015.07.015 PMID:26299364