Aicardi-Goutieres syndrome 2
Findings
No curated finding names Aicardi-Goutieres syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.
Definition from the Mondo Disease Ontology (MONDO:0012429), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Basal ganglia calcificationHPOHP:0002135
- Cerebral atrophyHPOHP:0002059
- Chronic CSF lymphocytosisHPOHP:0009704
- EncephalopathyHPOHP:0001298
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RNASEH2BHGNC:25671
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: Aicardi-Goutieres syndrome 2
- Also called
- Aicardi-Goutieres syndrome caused by mutation in RNASEH2BAicardi-Goutieres syndrome type 2RNASEH2B Aicardi-Goutieres syndrome