RTN4IP1 gene related symptoms and diseases
All the information presented here about the RTN4IP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RTN4IP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Ataxia | Uncommon - Between 30% and 50% cases |
| Nystagmus | Uncommon - Between 30% and 50% cases |
| Peripheral neuropathy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with RTN4IP1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Optic atrophy
- Intellectual disability, mild
- Reduced visual acuity
- Photophobia
- Pallor
- Generalized-onset seizure
- Optic disc pallor
- Optic neuropathy
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RTN4IP1 gene
Here you will find a list of rare diseases related to the RTN4IP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10
Most common symptoms of OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10
- Intellectual disability
- Seizures
- Ataxia
- Nystagmus
- Peripheral neuropathy
More info about OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10
SOURCES: OMIM
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY
Alternate names
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY Is also known as autosomal recessive non-syndromic optic atrophy
More info about AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY
SOURCES: ORPHANET
Search interest in RTN4IP1
Potential gene panels for RTN4IP1 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
RTN4IP1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the RTN4IP1 gene.
More info about this panel Germany.
Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) Panel
Portugal.
By CGC Genetics Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) that also includes the following genes: ACO2 RTN4IP1 TMEM126A MT-ND1 MT-ND4 MT-ND6 OPA1 OPA3
More info about this panel Portugal.
Optic atrophy 10 with or without ataxia, mental retardation, and seizures (sequence analysis of RTN4IP1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RTN4IP1 gene.
More info about this panel Portugal.
Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) Panel
Portugal.
By CGC Genetics Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) that also includes the following genes: ACO2 RTN4IP1 TMEM126A MT-ND1 MT-ND4 MT-ND6 OPA1 OPA3
More info about this panel Portugal.
Optic atrophy 10 with or without ataxia, mental retardation, and seizures (sequence analysis of RTN4IP1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RTN4IP1 gene.
More info about this panel Portugal.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Optic Atrophy Panel Panel
Germany.
By CeGaT GmbH Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A VAX2 WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A
More info about this panel Germany.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
RTN4IP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RTN4IP1 gene.
More info about this panel United States.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Neuro-Ophthalmology Panel Panel
Finland.
By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panel Finland.
Optic Atrophy Panel Panel
Finland.
By Blueprint Genetics Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 SNX10 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A
More info about this panel Finland.
OPTIC ATROPHY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL OPTIC ATROPHY NGS PANEL that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A C12orf65
More info about this panel Spain.
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