SLC7A14 gene related symptoms and diseases
All the information presented here about the SLC7A14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC7A14 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Blindness | Very Common - Between 80% and 100% cases |
| Glaucoma | Uncommon - Between 30% and 50% cases |
| Abnormality of the retinal vasculature | Uncommon - Between 30% and 50% cases |
| Abnormality of the testis | Uncommon - Between 30% and 50% cases |
| Atypical scarring of skin | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC7A14 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Keratoconus
- Hyperinsulinemia
- Abnormal electroretinogram
- Abnormality of retinal pigmentation
- Type II diabetes mellitus
- Hypoplasia of penis
- Ophthalmoplegia
- Conductive hearing impairment
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC7A14 gene
Here you will find a list of rare diseases related to the SLC7A14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RETINITIS PIGMENTOSA 68; RP68
Most common symptoms of RETINITIS PIGMENTOSA 68; RP68
- Blindness
- Rod-cone dystrophy
- Nyctalopia
- Visual field defect
- Retinal atrophy
More info about RETINITIS PIGMENTOSA 68; RP68
SOURCES: OMIM
RETINITIS PIGMENTOSA
Description
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Most common symptoms of RETINITIS PIGMENTOSA
- Intellectual disability
- Nystagmus
- Sensorineural hearing impairment
- Cataract
- Visual impairment
More info about RETINITIS PIGMENTOSA
SOURCES: ORPHANET
Search interest in SLC7A14
Potential gene panels for SLC7A14 gene
Retinitis Pigmentosa Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel United States.
SLC7A14 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SLC7A14 gene.
More info about this panel Germany.
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG SEMA4A TULP1 USH2A CLRN1 BEST1
More info about this panel United States.
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR SAG SEMA4A TULP1
More info about this panel United States.
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.
Autosomal Recessive Retinitis Pigmentosa via SLC7A14 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC7A14 gene.
More info about this panel United States.
Retinitis pigmentosa, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Retinitis pigmentosa, autosomal recessive and X-linked Panel that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
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.
SLC7A14 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC7A14 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.
Retinitis Pigmentosa Panel Panel
Finland.
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panel Finland.
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6
More info about this panel Canada.
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