COX6A1 gene related symptoms and diseases
All the information presented here about the COX6A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COX6A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Unsteady gait | Very Common - Between 80% and 100% cases |
| Onion bulb formation | Very Common - Between 80% and 100% cases |
| Steppage gait | Very Common - Between 80% and 100% cases |
| Foot dorsiflexor weakness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with COX6A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Frequent falls
- Sensory impairment
- Distal sensory impairment
- Distal amyotrophy
- Falls
- Peripheral axonal neuropathy
- Abnormality of the foot
- Muscle weakness
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COX6A1 gene
Here you will find a list of rare diseases related to the COX6A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D
Alternate names
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D Is also known as ri-cmt type d
Most common symptoms of AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D
- Hearing impairment
- Muscle weakness
- Pain
- Flexion contracture
- Peripheral neuropathy
More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D
Search interest in COX6A1
Potential gene panels for COX6A1 gene
Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1
More info about this panel United States.
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
Portugal.
By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panel Portugal.
Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panel Portugal.
Charcot Marie Tooth Disease via COX6A1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the COX6A1 gene.
More info about this panel United States.
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 LITAF FIG4 FGD4 GNB4 SBF2 COX6A1
More info about this panel United States.
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panel United States.
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 PRX GDAP1 TRIM2 FIG4 MFN2 TRPV4 FGD4 AARS GNB4
More info about this panel United States.
Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX
More info about this panel United States.
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panel United States.
Atrial fibrillation Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Atrial fibrillation Deletion / Duplication test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panel United States.
Atrioventricular block Comprehensive test Panel
United States.
By Connective Tissue Gene Tests Atrioventricular block Comprehensive test that also includes the following genes: BSCL2 AARS COX6A1 C12orf65 GAA GLA ATP1A1 AIFM1
More info about this panel United States.
Atrioventricular block NGS test Panel
United States.
By Connective Tissue Gene Tests Atrioventricular block NGS test that also includes the following genes: BSCL2 AARS COX6A1 C12orf65 GAA GLA ATP1A1 AIFM1
More info about this panel United States.
Atrial fibrillation Comprehensive test Panel
United States.
By Connective Tissue Gene Tests Atrial fibrillation Comprehensive test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panel United States.
Atrial fibrillation NGS test Panel
United States.
By Connective Tissue Gene Tests Atrial fibrillation NGS test that also includes the following genes: BSCL2 GDAP1 FIG4 FGD4 AARS GNB4 COX6A1 DHTKD1 C12orf65 DYNC1H1
More info about this panel United States.
Charcot-Marie-Tooth disease Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Deletion / Duplication panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panel United States.
Charcot-Marie-Tooth disease NGS panel Panel
United States.
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease NGS panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panel United States.
Charcot-Marie-Tooth disease Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Comprehensive panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panel United States.
CMTRID Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COX6A1 gene.
More info about this panel Germany.
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 Germany.
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
Germany.
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panel Germany.
Charcot-Marie-Tooth Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panel Estonia.
COX6A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COX6A1 gene.
More info about this panel United States.
Charcot-Marie-Tooth Neuropathy Panel Panel
Finland.
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panel Finland.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LRRK2 ZFHX2 PAH OGDH FLRT1 MMAA ANO3