ODAD4 outer dynein arm docking complex subunit 4

Gene info

Synonyms

None

Previous symbol

TTC25

External ID

HGNC: 25280
Entrez Gene: 83538
Ensembl: ENSG00000204815
UCSC: uc032fin.2
OMIM: 617095
UniProtKB: Q96NG3

Disease info

Disease

None

CHD Phenotype

  • Atrioventricular septal defect
  • Double outlet right ventricle
  • Pulmonic stenosis
  • Patent ductus arteriosus
  • Total anomalous pulmonary venous return

Extra Cardiac Phenotype

Randomization of left-right body asymmetry

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for a null allele have CHD

MGI ID

1921657

Variant info

Clinvar

ODAD4

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

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Selected References

  1. https://panelapp.agha.umccr.org/panels/76/gene/TTC25/