DLG5 discs large MAGUK scaffold protein 5

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 2904
Entrez Gene: 9231
Ensembl: ENSG00000151208
UCSC: uc001jzk.4
OMIM: 604090
UniProtKB: Q8TDM6

Disease info

Disease

None

CHD Phenotype

  • Ventricular septal defect
  • Overriding aorta

Extra Cardiac Phenotype

Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities,craniofacial malformations

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1918478

Variant info

Clinvar

DLG5

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. Marquez, J., Mann, N., Arana, K., Deniz, E., Ji, W., Konstantino, M., Mis, E. K., Deshpande, C., Jeffries, L., McGlynn, J., Hugo, H., Widmeier, E., Konrad, M., Tasic, V., Morotti, R., Baptista, J., Ellard, S., Lakhani, S. A., Hildebrandt, F., & Khokha, M. K. (2020). <i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Journal of Medical Genetics, 58(7), 453–464. https://doi.org/10.1136/jmedgenet-2019-106805 DOI:10.1136/jmedgenet-2019-106805 PMID:32631816