CCDC22 coiled-coil domain containing 22

Gene info

Synonyms

JM1

Previous symbol

CXorf37

External ID

HGNC: 28909
Entrez Gene: 28952
Ensembl: ENSG00000101997
UCSC: uc004dnd.2
OMIM: 300859
UniProtKB: O60826

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Hypoplastic right pulmonary artery

Extra Cardiac Phenotype

Intellectual disability associated with posterior fossa defects and minor abnormalities of the face and distal extremities

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No KO mouse models

MGI ID

1859608

Variant info

Clinvar

CCDC22

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 CCDC22.

Selected References

None