RIT1 Ras like without CAAX 1

Gene info

Synonyms

RIBB, ROC1, MGC125864, MGC125865

Previous symbol

RIT

External ID

HGNC: 10023
Entrez Gene: 6016
Ensembl: ENSG00000143622
UCSC: uc001fmh.3
OMIM: 609591
UniProtKB: Q92963

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Mitral valve prolapse
  • Persistent ductus arteriosus
  • Pulmonary stenosis
  • Ventricular septal defect
  • Mitral valve regurgitation

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded, human mutated RNA injected into zebrafish leads to CHD

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 RIT1: BED file

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Selected References

  1. Aoki, Y., Niihori, T., Banjo, T., Okamoto, N., Mizuno, S., Kurosawa, K., … Matsubara, Y. (2013). Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome. The American Journal of Human Genetics, 93(1), 173–180. DOI:10.1016/j.ajhg.2013.05.021 PMID:23791108
  2. Bertola, D. R., Yamamoto, G. L., Almeida, T. F., Buscarilli, M., Jorge, A. A. L., Malaquias, A. C., … Pereira, A. C. (2014). Further evidence of the importance ofRIT1in Noonan syndrome. American Journal of Medical Genetics Part A, 164(11), 2952–2957. DOI:10.1002/ajmg.a.36722 PMID:25124994
  3. Milosavljević, D., Overwater, E., Tamminga, S., de Boer, K., Elting, M. W., van Hoorn, M. E., … Houweling, A. C. (2016). Two cases ofRIT1associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. American Journal of Medical Genetics Part A, 170(7), 1874–1880. DOI:10.1002/ajmg.a.37657 PMID:27109146