SLC24A1 gene related symptoms and diseases
All the information presented here about the SLC24A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC24A1 gene
Symptoms // Phenotype | % Cases |
---|---|
Nystagmus | Very Common - Between 80% and 100% cases |
Blindness | Very Common - Between 80% and 100% cases |
Reduced visual acuity | Very Common - Between 80% and 100% cases |
Nyctalopia | Very Common - Between 80% and 100% cases |
Congenital stationary night blindness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC24A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Myopia
Not very common - Between 30% and 50% cases
- Abnormality of macular pigmentation
- Complete congenital stationary night blindness
- Moderate myopia
- Hypertropia
- Abnormal fundus morphology
- Monochromacy
- Hemeralopia
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC24A1 gene
Here you will find a list of rare diseases related to the SLC24A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D
Alternate names
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D Is also known as csnb, complete, autosomal recessive
Description
CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (OMIM ).
Most common symptoms of NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D
- Nystagmus
- Myopia
- Blindness
- Reduced visual acuity
- Nyctalopia
More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D
SOURCES: OMIM
CONGENITAL STATIONARY NIGHT BLINDNESS
Alternate names
CONGENITAL STATIONARY NIGHT BLINDNESS Is also known as hemeralopia-myopia, myopia-night blindness, night blindness, congenital stationary, with myopia, csnb, complete, x-linked, nbm1, congenital essential nyctalopia
Description
Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.
Most common symptoms of CONGENITAL STATIONARY NIGHT BLINDNESS
- Nystagmus
- Strabismus
- Myopia
- Blindness
- Reduced visual acuity
More info about CONGENITAL STATIONARY NIGHT BLINDNESS
Search interest in SLC24A1
Potential gene panels for SLC24A1 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelCongenital Stationary Night Blindness Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F LRIT3 GPR179 GNAT1 GNB3
More info about this panelNight blindness, congenital stationary (NGS panel of 13 genes) Panel
By CGC Genetics Night blindness, congenital stationary (NGS panel of 13 genes) that also includes the following genes: RHO GRK1 SAG SLC24A1 CACNA1F LRIT3 GPR179 GNAT1 GNB3 GRM6
More info about this panelNight blindness, congenital stationary (NGS panel of 13 genes) Panel
By CGC Genetics Night blindness, congenital stationary (NGS panel of 13 genes) that also includes the following genes: RHO GRK1 SAG SLC24A1 CACNA1F LRIT3 GPR179 GNAT1 GNB3 GRM6
More info about this panelCongenital Stationary Night Blindness and Retinal Degeneration via SLC24A1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC24A1 gene.
More info about this panelCongenital Stationary Night Blindness Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Stationary Night Blindness Sequencing Panel with CNV Detection that also includes the following genes: RHO GRK1 RPE65 SAG SLC24A1 CABP4 CACNA1F CHM CACNA2D4 LRIT3
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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 panelOptic Atrophy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Optic Atrophy Sequencing Panel with CNV Detection that also includes the following genes: SLC24A1 SPG7 ACO2 TIMM8A WFS1 MFN2 CISD2 TMEM126A MTPAP C12orf65
More info about this panelCongenital Stationary Night Blindness Panel Panel
By CeGaT GmbH Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1
More info about this panelEye diseases comprehensive panel Panel
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelRetinal Dystrophy Panel Panel
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 panelCongenital Stationary Night Blindness panel Panel
By Molecular Vision Laboratory Congenital Stationary Night Blindness panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F LRIT3 GPR179 GNAT1 GRM6
More info about this panelMVL Vision Panel Panel
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 panelEye Disorders: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelCongenital Stationary Night Blindness: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Stationary Night Blindness: Sequencing Panel that also includes the following genes: RHO SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1 GRM6
More info about this panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelCongenital Stationary Night Blindness: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Stationary Night Blindness: Deletion/Duplication Panel that also includes the following genes: RHO SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1 GRM6
More info about this panelEye Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelSLC24A1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC24A1 gene.
More info about this panelRetinal Dystrophy Panel Panel
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 panelNIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL RECESSIVE) Panel
By Laboratorio de Genetica Clinica SL NIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL RECESSIVE) that also includes the following genes: GRK1 SAG SLC24A1 CABP4 GRM6 TRPM1
More info about this panelNIGHT BLINDNESS, CONGENITAL STATIONARY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NIGHT BLINDNESS, CONGENITAL STATIONARY NGS PANEL that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1
More info about this panelCongenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes Panel
By Reference Laboratory Genetics Congenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F GPR179 GNAT1 GRM6 TRPM1
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