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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-01-2012
Symbol AGS2
Location 13q14.3
Name Aicardi-Goutieres syndrome 2
Corresponding gene RNASEH2B
Main clinical features
  • encephalopathy characterized by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon
  • frequent chilblain lesions
  • milder form, rare early death
  • later-onset form of presentation after a significant period of normal development is most frequently seen (PMID: 21454563))
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function