IFT74 intraflagellar transport 74

Gene info

Synonyms

capillary morphogenesis protein 1

Previous symbol

CCDC2

External ID

HGNC: 21424
Entrez Gene: 80173
Ensembl: ENSG00000096872
UCSC: uc010mja.4
OMIM: 608040
UniProtKB: Q96LB3

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Atrioventricular septal defect
  • Patent ductus arteriosus
  • Double outlet right ventricle
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype

Skeletal chondrodysplasia, narrow thorax, progressive growth retardation, mucociliary clearance disorder phenotype with severely shorted cilia

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1914944

Variant info

Clinvar

IFT74

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

Genome browser powered by igv.js

Selected References

  1. https://panelapp-aus.org/panels/76/gene/IFT74/