COQ7 gene related symptoms and diseases

All the information presented here about the COQ7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COQ7 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Respiratory distress Very Common - Between 80% and 100% cases
Elevated serum creatinine Very Common - Between 80% and 100% cases
Progressive muscle weakness Very Common - Between 80% and 100% cases
Renal dysplasia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COQ7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Renal hypoplasia
  • Oligohydramnios
  • Peripheral demyelination
  • Polyneuropathy
  • Pulmonary hypoplasia
  • Small for gestational age
  • Postnatal growth retardation
  • Intrauterine growth retardation

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

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Rare diseases associated to COQ7 gene

Here you will find a list of rare diseases related to the COQ7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8


Most common symptoms of COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

SOURCES: OMIM


Potential gene panels for COQ7 gene

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

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

COQ7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COQ7 gene.

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

Coenzyme q10 Deficiency Panel Panel

Finland.

By Blueprint Genetics Coenzyme q10 Deficiency Panel that also includes the following genes: APTX COQ8A PDSS1 COQ4 COQ6 SLC25A26 COQ7 PDSS2 COQ2 COQ9

More info about this panel

Primary Coenzyme Q10 Deficiency: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Coenzyme Q10 Deficiency: gene sequencing panel that also includes the following genes: COQ8A PDSS1 COQ4 COQ6 COQ7 PDSS2 COQ2 COQ9

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CCR1 PDE3A RABEP1 TRAF7 SLC25A32

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