DLL4 delta like canonical Notch ligand 4

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 2910
Entrez Gene: 54567
Ensembl: ENSG00000128917
UCSC: uc001zng.3
OMIM: 605185
UniProtKB: Q9NR61

Disease info

Disease

None

CHD Phenotype

  • 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

Incomplete penetrance

Yes

Variable expressivity

Yes

Animal model

Mouse study

Heterozygous and homozygous null mice have cardiovascular defects.

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for DLL4: BED file

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Selected References

  1. 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
  2. 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