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.

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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

SOURCES: ORPHANET OMIM


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

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

CHM Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CHM gene.

More info about this panel

CHM Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the CHM gene.

More info about this panel

CHM Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the CHM gene.

More info about this panel

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

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

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

Choroideremia (sequence analysis of CHM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CHM gene.

More info about this panel

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

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

Choroideremia, founder mutation Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the CHM gene.

More info about this panel

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

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

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

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

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

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

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

Choroidermia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CHM gene.

More info about this panel

Choroideremia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CHM gene.

More info about this panel

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

Single gene testing CHM Panel

Germany.

By CeGaT GmbH

This panel specifically test the CHM gene.

More info about this panel

Choroideremia Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the CHM gene.

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

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

CHM sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the CHM 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

Choroideremia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CHM gene.

More info about this panel

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

Choroideremia Panel

Slovakia.

By MedGene

This panel specifically test the CHM gene.

More info about this panel

Invitae Choroideremia Test Panel

United States.

By Invitae

This panel specifically test the CHM gene.

More info about this panel

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

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

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

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

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

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

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

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

CHM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CHM gene.

More info about this panel

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

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

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

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

Choroideremia Panel

Spain.

By Bioarray

This panel specifically test the CHM gene.

More info about this panel

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

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

CHOROIDEREMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CHM gene.

More info about this panel

Choroideremia, Sequencing CHM Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CHM gene.

More info about this panel

Choroideremia , Deletions-Duplications (MLPA) CHM Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CHM gene.

More info about this panel


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