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Recognized gene
COQ4
Normalized c.HGVS
c.134C>T, c.137C>G, c.17G>A, c.304C>T, c.311G>A and 10 more
Normalized p.HGVS
p.(Arg102Cys), p.(Arg104Gln), p.(Arg129Cys), p.(Arg158Gln), p.(Arg227Cys) and 10 more
Matching records
40
PM3-positive records
12
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| COQ4 |
NM_016035.5:c.473G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.245T>A
context: Compound heterozygous candidate
|
39398416
The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review.
Frontiers in pediatrics, 2024
|
Main article | |
| COQ4 |
NM_016035.5:c.533G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.370G>A
context: Compound heterozygous candidate
|
39398416
The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review.
Frontiers in pediatrics, 2024
|
Main article | |
| COQ4 |
NM_016035.5:c.473G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.305G>A; p.Arg102His
context: Compound heterozygous candidate
|
38673663
Primary Coenzyme Q10 Deficiency-Related Ataxias.
Journal of clinical medicine, 2024
|
Main article | |
| COQ4 |
NM_016035.5:c.304C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.305G>A; p.Arg102His
context: Confirmed in trans
|
38013626
Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.
CNS neuroscience & therapeutics, 2024
|
Main article | |
| COQ4 |
NM_016035.5:c.533G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.305G>A; p.Arg102His
context: Confirmed in trans
|
38013626
Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.
CNS neuroscience & therapeutics, 2024
|
Main article | |
| COQ4 |
NM_016035.5:c.473G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
37627647
Primary Coenzyme Q10 Deficiency: An Update.
Antioxidants (Basel, Switzerland), 2023
|
Main article | |
| COQ4 |
NM_016035.5:c.376G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.692 G > A; p.(Cys231Tyr)
context: Compound heterozygous candidate
|
36266294
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
NPJ genomic medicine, 2022
|
Main article | |
| COQ4 |
NM_016035.5:c.473G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.245 T > A; c.245T>A
context: Compound heterozygous candidate
|
35154243
Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment.
Frontiers in genetics, 2022
|
Main article | |
| COQ4 |
NM_016035.5:c.533G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.370G > A
context: Compound heterozygous candidate
|
35154243
Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment.
Frontiers in genetics, 2022
|
Main article | |
| COQ4 |
NM_016035.5:c.473G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.245T > A
context: Compound heterozygous candidate
|
34638552
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
International journal of molecular sciences, 2021
|
Main article | |
| COQ4 |
NM_016035.5:c.473G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.245T>A
context: Compound heterozygous candidate
|
31396399
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
NPJ genomic medicine, 2019
|
Main article | |
| COQ4 |
NM_016035.5:c.473G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with Leu82Gln
context: Compound heterozygous candidate
|
28540186
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ(10) deficiency.
Molecular genetics and metabolism reports, 2017
|
Main article | |
| COQ4 |
NM_016035.5:c.461A>T
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
29255295
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Scientific reports, 2017
|
Supplementary material | |
| COQ4 |
NM_016035.5:c.461A>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36922933
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer research communications, 2022
|
Main article and supplement | |
| COQ4 |
NM_016035.5:c.533G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36552517
Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes.
Antioxidants (Basel, Switzerland), 2022
|
Main article and supplement | |
| COQ4 |
NM_016035.5:c.304C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35979408
Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway.
Frontiers in pediatrics, 2022
|
Main article | |
| COQ4 |
NM_016035.5:c.533G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
34638552
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
International journal of molecular sciences, 2021
|
Main article | |
| COQ4 |
NM_016035.5:c.311G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
32579932
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell reports, 2020
|
Main article and supplement | |
| COQ4 |
NM_016035.5:c.137C>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
31253177
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome medicine, 2019
|
Main article and supplement | |
| COQ4 |
NM_016035.5:c.679C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
31253177
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome medicine, 2019
|
Main article and supplement | |