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GENATLAS PHENOTYPE
last update : 25-05-2016
Symbol RERED
Location 1p36.23
Name RERE deficiency
Corresponding gene RERE
Main clinical features
  • intellectual disability, developmental delay, and/or autism spectrum disorder
  • hypotonia, seizures, behavioral problems, structural CNS anomalies, ophthalmologic anomalies, congenital heart defects, and genitourinary abnormalities
  • at brain MRI , thin corpus callosum, delayed myelination, diminished white matter volume, abnormal cerebellar vermis, and ventriculomegaly
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    eye
    neurology
    sex-genitalia
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   haploinsufficiency might be sufficient to cause many of the phenotypes associated with proximal 1p36 deletions (PMID: 27087320)
    Remark(s)