DLG5 discs large MAGUK scaffold protein 5

Gene info

Synonyms

P-dlg, KIAA0583

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

MGI: No CHD in knockout mice

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

No variant passing our criteria was found for DLG5.

Selected References

None