|
rs145588689
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
|
24262145 |
2014 |
|
rs145588689
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
|
23001123 |
2012 |
|
rs28939668
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction.
|
12649809 |
2003 |
|
rs77103971
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
|
rs77103971
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
|
21454563 |
2011 |
|
rs77103971
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
|
23592335 |
2013 |
|
rs77103971
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases.
|
19034401 |
2009 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
|
26846091 |
2016 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.
|
25343331 |
2014 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
|
26182405 |
2015 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
|
25243380 |
2014 |
|
rs75184679
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
|
rs75184679
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
|
25243380 |
2014 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
|
16845400 |
2006 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.
|
26903602 |
2016 |
|
rs75184679
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
|
16845400 |
2006 |
|
rs75184679
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
|
rs75184679
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability.
|
25274781 |
2015 |
|
rs74555752
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The diagnosis of AGS was confirmed by sequence analysis, which identified a previously reported homozygous RNASEH2B mutation, c.554 T > G (p.V185G).
|
28332073 |
2017 |
|
rs78635798
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Moreover, of five analyzed mutations in human RNASEH2B and RNASEH2C linked to Aicardi-Goutières Syndrome (AGS), only one, R69W in the RNASEH2C protein, exhibits a significant reduction in specific activity, revealing a role for the C subunit in enzymatic activity.
|
19015152 |
2009 |
|
rs78635798
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In contrast, the recurrent c.205C > T (p.R69W) RNASEH2C Asian founder mutation has previously only been identified in children with a severe AGS phenotype.
|
23322642 |
2013 |