Optic Atrophy 9; Opa9

Clinical Features

Phenotypes and symptoms related to Optic Atrophy 9; Opa9

  • Peripheral neuropathy
  • Optic atrophy
  • Reduced visual acuity
  • Pallor
  • Scotoma
  • Optic neuropathy
  • Dyschromatopsia
  • Red-green dyschromatopsia
  • Paracentral scotoma

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.

Optic Atrophy 9; Opa9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Optic Atrophy and Early Glaucoma Panel.

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

SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
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 %
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 %
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 %
Infantile Cerebellar-Retinal Degeneration the ACO2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ACO2
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 Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC24A1, SPG7, ACO2, TIMM8A, WFS1, MFN2, CISD2, TMEM126A, MTPAP, C12orf65, NDUFS1, NR2F1, OPA1, OPA3, AUH, POLG
Specificity
7 %
Genes
100 %

You can get up to 19 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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