PLXND1 plexin D1

Gene info

Synonyms

KIAA0620

Previous symbol

None

External ID

HGNC: 9107
Entrez Gene: 23129
Ensembl: ENSG00000004399
UCSC: uc003emx.3
OMIM: 604282
UniProtKB: Q9Y4D7

Disease info

Disease

None

CHD Phenotype

  • Truncus arteriosus

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for a null allele have CHD

MGI ID

2154244

Variant info

Clinvar

PLXND1

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

No variant passing our criteria was found for PLXND1.

Selected References

  1. Guimier, A., de Pontual, L., Braddock, S. R., Torti, E., Pérez-Jurado, L. A., Muñoz-Cabello, P., Arumí, M., Monaghan, K. G., Lee, H., Wang, L., Pluym, I. D., Lynch, S. A., Stals, K., Ellard, S., Muller, C., Houyel, L., Cohen, L., Lyonnet, S., Bajolle, F., … Gordon, C. T. (2022). Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans. Human Molecular Genetics, 32(3), 353–356. https://doi.org/10.1093/hmg/ddac084 DOI:10.1093/hmg/ddac084 PMID:35396997