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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM MESH

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

SOURCES: MESH ORPHANET OMIM


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

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

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

GNAT2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the GNAT2 gene.

More info about this panel

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

Achromatopsia 4 (sequence analysis of GNAT2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GNAT2 gene.

More info about this panel

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

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

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

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

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

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

Achromatopsia type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GNAT2 gene.

More info about this panel

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

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

Single gene testing GNAT2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the GNAT2 gene.

More info about this panel

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

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

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

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

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

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

GNAT2 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the GNAT2 gene.

More info about this panel

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

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

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

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

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

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

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

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

GNAT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GNAT2 gene.

More info about this panel

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

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

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

Achromatopsia type 4 Panel

Spain.

By Bioarray

This panel specifically test the GNAT2 gene.

More info about this panel

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

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

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

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


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