TMEM126A gene related symptoms and diseases

All the information presented here about the TMEM126A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TMEM126A gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Peripheral axonal neuropathy Very Common - Between 80% and 100% cases
Dyschromatopsia Very Common - Between 80% and 100% cases
Central scotoma Very Common - Between 80% and 100% cases
Optic neuropathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TMEM126A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Scotoma
  • Constriction of peripheral visual field
  • Abnormality of mitochondrial metabolism
  • Horizontal nystagmus
  • Exotropia
  • Optic disc pallor
  • Progressive visual loss
  • Pallor

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TMEM126A gene

Here you will find a list of rare diseases related to the TMEM126A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE


Description

A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.

Most common symptoms of AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE

  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


More info about AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE

SOURCES: MESH ORPHANET OMIM


Potential gene panels for TMEM126A 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

Optic Atrophy and Early Glaucoma Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP

More info about this panel

TMEM126A Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the TMEM126A gene.

More info about this panel

TMEM126A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TMEM126A gene.

More info about this panel

Optic atrophy 7 (sequence analysis of TMEM126A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TMEM126A gene.

More info about this panel

Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) Panel

Portugal.

By CGC Genetics Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) that also includes the following genes: ACO2 RTN4IP1 TMEM126A MT-ND1 MT-ND4 MT-ND6 OPA1 OPA3

More info about this panel

Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) Panel

Portugal.

By CGC Genetics Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) that also includes the following genes: ACO2 RTN4IP1 TMEM126A MT-ND1 MT-ND4 MT-ND6 OPA1 OPA3

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

Optic Atrophy Sequencing Panel with CNV Detection Panel

United States.

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 panel

Optic Atrophy 7 (OPA7) via TMEM126A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TMEM126A gene.

More info about this panel

(Mitochondrial) Optic Atrophy Panel

Germany.

By MGZ Medical Genetics Center (Mitochondrial) Optic Atrophy that also includes the following genes: WFS1 MFN2 TMEM126A MTPAP C12orf65 OPA1 OPA3

More info about this panel

Optic Atrophy Type 7 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the TMEM126A gene.

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Hereditary Optic Atrophy Panel

Germany.

By MGZ Medical Genetics Center Hereditary Optic Atrophy that also includes the following genes: WFS1 MFN2 TMEM126A MTPAP C12orf65 OPA1 OPA3

More info about this panel

Optic atrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TMEM126A gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Optic Atrophy Panel Panel

Germany.

By CeGaT GmbH Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A VAX2 WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A

More info about this panel

Single gene testing TMEM126A Panel

Germany.

By CeGaT GmbH

This panel specifically test the TMEM126A gene.

More info about this panel

OPA7 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the TMEM126A gene.

More info about this panel

Optic Atrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Optic Atrophy that also includes the following genes: TMEM126A OPA1 OPA3

More info about this panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1

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

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

Optic atrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Optic atrophy that also includes the following genes: SPG7 TIMM8A WFS1 MFN2 CISD2 TMEM126A C12orf65 NDUFS1 OPA1 OPA3

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

Optic Atrophy: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Optic Atrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: TIMM8A MFN2 TMEM126A OPA1 OPA3

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

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

TMEM126A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TMEM126A 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

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

More info about this panel

Optic Atrophy Panel Panel

Finland.

By Blueprint Genetics Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 SNX10 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Mitochondrial DNA Depletion Syndrome Panel Panel

Finland.

By Blueprint Genetics Mitochondrial DNA Depletion Syndrome Panel that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TIMM8A TK2 WFS1 FBXL4

More info about this panel

Glaucoma Panel Panel

Finland.

By Blueprint Genetics Glaucoma Panel that also includes the following genes: TBK1 TEK CNTNAP2 OPTN COL4A1 TMEM126A CYP1B1 WDR36 FOXC1 FOXE3

More info about this panel

Autosomal recessive optic atrophy type 7 Panel

Spain.

By Bioarray

This panel specifically test the TMEM126A gene.

More info about this panel

OPTIC ATROPHY TYPE 7 (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TMEM126A gene.

More info about this panel

OPTIC ATROPHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL OPTIC ATROPHY NGS PANEL that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A C12orf65

More info about this panel

Optic Atrophy Type 7, Sequencing TMEM126A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TMEM126A gene.

More info about this panel

Optic Atrophy , Panel Massive Sequencing 4 Genes Panel

Spain.

By Reference Laboratory Genetics Optic Atrophy , Panel Massive Sequencing 4 Genes that also includes the following genes: ACO2 TMEM126A OPA1 OPA3

More info about this panel


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