RERE arginine-glutamic acid dipeptide repeats

Gene info

Synonyms

KIAA0458, ARP, ARG, DNB1

Previous symbol

ATN1L

External ID

HGNC: 9965
Entrez Gene: 473
Ensembl: ENSG00000142599
UCSC: uc001ape.4
OMIM: 605226
UniProtKB: Q9P2R6

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent foramen ovale
  • Patent ductus arteriosus

Extra Cardiac Phenotype

Facial dysmorphism, Neurodevelopmental delay, Autism, Hypotonia, Seizures, Failure to thrive, Ophthalmologic anomalies, Gasstrointestinal anomalies, Genitourinary abnormalities, Hip dysplasia, Scoliosis

Incomplete penetrance

Yes

Variable expressivity

Yes

Animal model

Mouse study

Heterozygous and homozygous mice with a single base mutation that affects splicing and probably NMD have CHD, RERE deficiency in mice leads to VSD

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 RERE: BED file

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Selected References

  1. Fregeau, B., Kim, B. J., Hernández-García, A., Jordan, V. K., Cho, M. T., Schnur, R. E., … Sherr, E. H. (2016). De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. The American Journal of Human Genetics, 98(5), 963–970. DOI:10.1016/j.ajhg.2016.03.002
  2. Jordan, V. K., Fregeau, B., Ge, X., Giordano, J., Wapner, R. J., … Balci, T. B. (2018). Genotype-phenotype correlations in individuals with pathogenic RERE variants. Human Mutation, 39(5), 666–675. DOI:10.1002/humu.23400 PMID:29330883