Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures; Opa10

Clinical Features

Top most frequent phenotypes and symptoms related to Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures; Opa10

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Optic atrophy
  • Intellectual disability, mild
  • Reduced visual acuity
  • Photophobia
  • Pallor

And another 4 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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Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures; Opa10 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

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

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
RTN4IP1.

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

RTN4IP1
Specificity
100 %
Genes
100 %
Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA).

By CGC Genetics (Portugal).

ACO2, RTN4IP1, TMEM126A, MT-ND1, MT-ND4, MT-ND6, OPA1, OPA3
Specificity
13 %
Genes
100 %
Optic atrophy 10 with or without ataxia, mental retardation, and seizures (sequence analysis of RTN4IP1 gene).

By CGC Genetics (Portugal).

RTN4IP1
Specificity
100 %
Genes
100 %
Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA).

By CGC Genetics (Portugal).

ACO2, RTN4IP1, TMEM126A, MT-ND1, MT-ND4, MT-ND6, OPA1, OPA3
Specificity
13 %
Genes
100 %
Optic atrophy 10 with or without ataxia, mental retardation, and seizures (sequence analysis of RTN4IP1 gene).

By CGC Genetics (Portugal).

RTN4IP1
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Optic Atrophy Panel.

By CeGaT GmbH (Germany).

SPG7, ACO2, TIMM8A, VAX2, WFS1, MFN2, RTN4IP1, CISD2, SLC25A46, TMEM126A, C12orf65, AFG3L2, NR2F1, OPA1, OPA3
Specificity
7 %
Genes
100 %

We have 7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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