CHM gene related symptoms and diseases
All the information presented here about the CHM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CHM gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Constriction of peripheral visual field | Very Common - Between 80% and 100% cases |
| Progressive night blindness | Very Common - Between 80% and 100% cases |
| Mottled pigmentation | Very Common - Between 80% and 100% cases |
| Chorioretinal degeneration | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CHM gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Choroideremia
- Decreased light- and dark-adapted electroretinogram amplitude
- Olivopontocerebellar atrophy
- Posterior subcapsular cataract
- Peripheral visual field loss
- Central scotoma
- Subcapsular cataract
- Scotoma
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CHM gene
Here you will find a list of rare diseases related to the CHM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHOROIDEREMIA
Alternate names
CHOROIDEREMIA Is also known as tcd, chm, tapetochoroidal dystrophy, tapetochoroidal dystrophy, progressive
Description
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
Most common symptoms of CHOROIDEREMIA
- Intellectual disability
- Hearing impairment
- Cataract
- Visual impairment
- Myopia
More info about CHOROIDEREMIA
Search interest in CHM
Potential gene panels for CHM 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.
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.
CHM Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CHM gene.
More info about this panel Germany.
CHM Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the CHM gene.
More info about this panel United States.
CHM Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the CHM gene.
More info about this panel United States.
Choroideremia, X-Linked Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the CHM gene.
More info about this panel Czech Republic.
CHM. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CHM gene.
More info about this panel Spain.
CHM. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CHM gene.
More info about this panel Spain.
Choroideremia (sequence analysis of CHM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CHM gene.
More info about this panel Portugal.
Choroideremia (deletion/duplication analysis on CHM, RPGR and RP2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CHM gene.
More info about this panel Portugal.
Choroideremia (deletion/duplication analysis on CHM, RPGR and RP2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CHM gene.
More info about this panel Portugal.
Choroideremia, founder mutation Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the CHM gene.
More info about this panel Poland.
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection that also includes the following genes: RP2 RPGR CHM OFD1
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.
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Flecked Retina Disorder Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Flecked Retina Disorder Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B EFEMP1 ABCA4 LRAT PLA2G5
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.
Choroideremia via CHM Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CHM gene.
More info about this panel United States.
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection that also includes the following genes: RHO RP1 RPE65 TULP1 USH2A RPGRIP1 CABP4 PRPF8 NMNAT1 CHM
More info about this panel United States.
Choroidermia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CHM gene.
More info about this panel Germany.
Choroideremia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CHM gene.
More info about this panel Germany.
Flecked Retina Disorders Panel Panel
Germany.
By CeGaT GmbH Flecked Retina Disorders Panel that also includes the following genes: RLBP1 RS1 CHM VPS13B EFEMP1 PLA2G5 RDH5
More info about this panel Germany.
Single gene testing CHM Panel
Germany.
By CeGaT GmbH
This panel specifically test the CHM gene.
More info about this panel Germany.
Choroideremia Panel
Estonia.
By Asper Biogene Asper Biogene LLC
This panel specifically test the CHM gene.
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.
X-Linked RP Panel Panel
United States.
By Molecular Vision Laboratory X-Linked RP Panel that also includes the following genes: RP2 RPGR RS1 CHM OFD1
More info about this panel United States.
CHM sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the CHM 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.
Choroideremia Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CHM gene.
More info about this panel Austria.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
Choroideremia Panel
Slovakia.
By MedGene
This panel specifically test the CHM gene.
More info about this panel Slovakia.
Invitae Choroideremia Test Panel
United States.
By Invitae
This panel specifically test the CHM gene.
More info about this panel United States.
Choroideremia: CHM gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CHM gene.
More info about this panel Spain.
Choroideremia: CHM Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the CHM gene.
More info about this panel United States.
Choroideremia: CHM Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the CHM gene.
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.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
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.
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.
Eye Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel United States.
CHM Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHM gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
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.
Flecked Retina Disorders Panel Panel
Finland.
By Blueprint Genetics Flecked Retina Disorders Panel that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B CYP4V2 ABCA4 PLA2G5 PROM1
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.
Choroideremia Panel
Spain.
By Bioarray
This panel specifically test the CHM gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
CHOROIDEREMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the CHM gene.
More info about this panel Spain.
Choroideremia, Sequencing CHM Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CHM gene.
More info about this panel Spain.
Choroideremia , Deletions-Duplications (MLPA) CHM Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CHM gene.
More info about this panel Spain.
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