Aicardi-goutieres Syndrome 6; Ags6

Clinical Features

Top most frequent phenotypes and symptoms related to Aicardi-goutieres Syndrome 6; Ags6

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor
  • Dystonia
  • Babinski sign
  • Rigidity
  • Abnormality of the nervous system
  • Developmental regression

And another 20 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Aicardi-goutieres Syndrome 6; Ags6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
ADAR.

By Institute for Human Genetics University Clinic Freiburg (Germany).

ADAR
Specificity
100 %
Genes
100 %
Dyschromatosis symmetrica hereditaria (sequence analysis of ADAR gene).

By CGC Genetics (Portugal).

ADAR
Specificity
100 %
Genes
100 %
Aicardi-Goutieres syndrome (NGS panel for 7 genes).

By CGC Genetics (Portugal).

TREX1, SAMHD1, RNASEH2A, IFIH1, ADAR, RNASEH2C, RNASEH2B
Specificity
15 %
Genes
100 %
Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TREX1, SAMHD1, RNASEH2A, IFIH1, ADAR, RNASEH2C, RNASEH2B
Specificity
15 %
Genes
100 %

We have 47 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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