GNAT2 gene related symptoms and diseases
All the information presented here about the GNAT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GNAT2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Photophobia | Very Common - Between 80% and 100% cases |
| Visual impairment | Very Common - Between 80% and 100% cases |
| Nystagmus | Common - Between 50% and 80% cases |
| Abnormal electroretinogram | Common - Between 50% and 80% cases |
| Monochromacy | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GNAT2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Achromatopsia
Not very common - Between 30% and 50% cases
- Retinal pigment epithelial atrophy
- Bull's eye maculopathy
- Abnormality of color vision
- Cone/cone-rod dystrophy
- Abnormality of retinal pigmentation
- Progressive visual loss
- Retinal degeneration
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GNAT2 gene
Here you will find a list of rare diseases related to the GNAT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACHROMATOPSIA
Alternate names
ACHROMATOPSIA Is also known as total color blindness, rod monochromatism, rod monochromacy 2, rmch2, colorblindness, total, rod monochromacy, achm, complete or incomplete color blindness, pingelapese blindness, rod monochromatism 2
Description
Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
Most common symptoms of ACHROMATOPSIA
- Nystagmus
- Visual impairment
- Myopia
- Blindness
- Reduced visual acuity
More info about ACHROMATOPSIA
ACHROMATOPSIA 4; ACHM4
Description
Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus (Kohl et al., 2002).For a general description and a discussion of genetic heterogeneity of achromatopsia, see {216900}.
Most common symptoms of ACHROMATOPSIA 4; ACHM4
- Nystagmus
- Visual impairment
- Photophobia
- Achromatopsia
- Monochromacy
More info about ACHROMATOPSIA 4; ACHM4
PROGRESSIVE CONE DYSTROPHY
Alternate names
PROGRESSIVE CONE DYSTROPHY Is also known as cone dystrophy, autosomal dominant, cone dystrophy, retinal cone degeneration
Most common symptoms of PROGRESSIVE CONE DYSTROPHY
- Visual impairment
- Photophobia
- Retinal degeneration
- Progressive visual loss
- Abnormality of retinal pigmentation
More info about PROGRESSIVE CONE DYSTROPHY
Search interest in GNAT2
Potential gene panels for GNAT2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
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 panel United States.
Cone-Rod Dystrophy Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Cone-Rod Dystrophy Panel that also includes the following genes: RPGR CNNM4 SEMA4A TULP1 CFAP410 BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1
More info about this panel United States.
Achromatopsia - GNAT2 Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the GNAT2 gene.
More info about this panel United States.
GNAT2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GNAT2 gene.
More info about this panel Germany.
GNAT2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GNAT2 gene.
More info about this panel Spain.
Achromatopsia 4 (sequence analysis of GNAT2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GNAT2 gene.
More info about this panel Portugal.
Cone-rod dystrophy (NGS panel of 36 genes) Panel
Portugal.
By CGC Genetics Cone-rod dystrophy (NGS panel of 36 genes) that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel Portugal.
Leber Congenital Amaurosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leber Congenital Amaurosis Sequencing Panel with CNV Detection that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 INPP5E CNGA3
More info about this panel United States.
Achromatopsia (ACHM) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Achromatopsia (ACHM) Sequencing Panel with CNV Detection that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
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.
Achromatopsia (ACHM) via GNAT2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GNAT2 gene.
More info about this panel United States.
Cancer Hotspot Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A
More info about this panel Germany.
Achromatopsia type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GNAT2 gene.
More info about this panel Germany.
Achromatopsia Panel Panel
Germany.
By CeGaT GmbH Achromatopsia Panel that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panel Germany.
Cone Rod Dystrophies Panel Panel
Germany.
By CeGaT GmbH Cone Rod Dystrophies Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel Germany.
Single gene testing GNAT2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the GNAT2 gene.
More info about this panel Germany.
Cone-Rod Dystrophy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cone-Rod Dystrophy that also includes the following genes: RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1 RAX2
More info about this panel Estonia.
Achromatopsia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Achromatopsia that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panel Estonia.
Eye diseases comprehensive panel Panel
Estonia.
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 panel Estonia.
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.
Cone Rod Dystrophy panel Panel
United States.
By Molecular Vision Laboratory Cone Rod Dystrophy panel that also includes the following genes: RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2
More info about this panel United States.
Achromatopsia panel Panel
United States.
By Molecular Vision Laboratory Achromatopsia panel that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panel United States.
GNAT2 single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the GNAT2 gene.
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.
Achromatopsia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Achromatopsia that also includes the following genes: CNGA3 CNGB3 GNAT2 PDE6C PDE6H
More info about this panel Spain.
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel United States.
Eye Disorders: Comprehensive Sequencing Panel Panel
United States.
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 panel United States.
Retina/Photoreceptor Dystrophy: Sequencing Panel Panel
United States.
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 panel United States.
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel United States.
Eye Disorders: Deletion/Duplication Panel Panel
United States.
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 panel United States.
Achromatopsia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Achromatopsia NGS Panel that also includes the following genes: CNGA3 CNGB3 GNAT2 PDE6C
More info about this panel United States.
GNAT2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GNAT2 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.
Achromatopsia Panel Panel
Finland.
By Blueprint Genetics Achromatopsia Panel that also includes the following genes: RGS9 CNGA3 CNGB3 RGS9BP GNAT2 ATF6 PDE6C PDE6H
More info about this panel Finland.
Cone Rod Dystrophy Panel Panel
Finland.
By Blueprint Genetics Cone Rod Dystrophy Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1
More info about this panel Finland.
Achromatopsia type 4 Panel
Spain.
By Bioarray
This panel specifically test the GNAT2 gene.
More info about this panel Spain.
ACHROMATOPSIA Panel
Spain.
By Laboratorio de Genetica Clinica SL ACHROMATOPSIA that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panel Spain.
ACHROMATOPSIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ACHROMATOPSIA NGS PANEL that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panel Spain.
CONE-ROD DYSTROPHY Panel
Spain.
By Laboratorio de Genetica Clinica SL CONE-ROD DYSTROPHY that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel Spain.
Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CNGA3 CNGB3 GNAT2 PDE6C PDE6H
More info about this panel Spain.
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