ROBO1 roundabout guidance receptor 1

Gene info

Synonyms

DUTT1, FLJ21882, SAX3

Previous symbol

None

External ID

HGNC: 10249
Entrez Gene: 6091
Ensembl: ENSG00000169855
UCSC: uc003dqd.3
OMIM: 602430
UniProtKB: Q9Y6N7

Disease info

Disease

None

CHD Phenotype

  • Tetralogy of fallot
  • Ventricular septal defect

Extra Cardiac Phenotype

Minor facial anomalies, congenital diaphragmatic hernia

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for a null allele have CHD

MGI ID

1274781

Variant info

Clinvar

ROBO1

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 ROBO1.

Selected References

  1. Kruszka, P., Tanpaiboon, P., Neas, K., Crosby, K., Berger, S. I., Martinez, A. F., Addissie, Y. A., Pongprot, Y., Sittiwangkul, R., Silvilairat, S., Makonkawkeyoon, K., Yu, L., Wynn, J., Bennett, J. T., Mefford, H. C., Reynolds, W. T., Liu, X., Mommersteeg, M. T. M., Chung, W. K., … Muenke, M. (2017). Loss of function inROBO1is associated with tetralogy of Fallot and septal defects. Journal of Medical Genetics, 54(12), 825–829. https://doi.org/10.1136/jmedgenet-2017-104611 DOI:10.1136/jmedgenet-2017-104611 PMID:28592524