RAB23 RAB23, member RAS oncogene family

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 14263
Entrez Gene: 51715
Ensembl: ENSG00000112210
UCSC: uc003pdt.5
OMIM: 606144
UniProtKB: Q9ULC3

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Double outlet right ventricle
  • Persistent ductus arteriosus
  • Tetralogy of fallot

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Homozygous null mouse has CHD and morpholino knockdown in zebrafish leads to laterality defects

MGI ID

Variant info

Clinvar

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

Download annotation file for RAB23: BED file

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Selected References

  1. Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., … Wilkie, A. O. M. (2007). RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity. The American Journal of Human Genetics, 80(6), 1162–1170. DOI:10.1086/518047 PMID:17503333