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  3. COQ7
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Fetal anomalies

Gene: COQ7

Green List (high evidence)
COQ7 (coenzyme Q7, hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000167186
EnsemblGeneIds (GRCh37): ENSG00000167186
OMIM: 601683, Gene2Phenotype
COQ7 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 6 panels, inc. IEM, severe paediatric disorders. Associated with ?coenzyme Q10 deficiency, primary, 8 (AR). Clinical synopsis relevant to pregnancy: IUGR. Fetal lung hypoplasia. Prenatal oligohydramnios. Freyer et al., 2015 (PMID 26084283): During pregnancy: oligohydramnios, fetal lung hypoplasia, IUGR. Born at term but small for gestational age. At birth: hypotonia, contractures of extremities and respiratory distress. Lung hypoplasia and renal dysfunction diagnosed. Systemic hypertension and L ventricular cardiac hypertophy. Blood pressure normalised after 3 months, cardiac hypertophy regressed and pulmonary function normalised within 8 months. Ultrasound of kidneys has shown normal growth and appearance. Moderate developmental delay. 2yo: peripheral sensorimotor polyneuropathy of axonal and demyelinating type. Normal MRI. Learning difficulties, vuisual and hearing impairement and hypotonia. Kwong et al., 2019 (PMID 31240163): Index patient: 2nd twin of dichorionic diamniotic twin pregnancy (1st twin healthy). 2nd twin: IUGR, cardiomegaly and tricuspid regurgitation. Born at 33weeks gestation but emergency C section due to oligohydramnios and abnormal Doppler. 4do -> heart failure with respiratory distress -> reintubation at 24do. Echocardiography at 26do severe hypertrophic cardiomyopathy, moderate tricuspid regurgitation and pericardial effusion. Generalised hypotonia, ptosis, bilateral severe visual impairement, hearing impairement. Dysmorphic features (frontal bossing, low nasal bridge and sparse hair). Renal cysts and increase in renal parenchymal echogenicity. Died ~1yo. Conclusion: linked to prenatal phenotypes (IUGR, fetal lung hypoplasia, oligohydramnios, cardiomegaly, tricuspid regurgitation. Relevant).
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Coenzyme Q10 deficiency, primary, 8, OMIM:616733

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733
OMIM
601683
Clinvar variants
Variants in COQ7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: COQ7. Tag Q2_23_NHS_review was removed from gene: COQ7.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to COQ7. Source NHS GMS was added to COQ7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: COQ7 were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: COQ7. Tag Q2_23_NHS_review tag was added to gene: COQ7.

5 May 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: COQ7 was added gene: COQ7 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733