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Inborn errors of metabolism

Gene: COQ7

Green List (high evidence)

COQ7 (coenzyme Q7, hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000167186
EnsemblGeneIds (GRCh37): ENSG00000167186
OMIM: 601683, Gene2Phenotype
COQ7 is in 8 panels

3 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies.
Created: 30 Sep 2019, 10:29 a.m. | Last Modified: 30 Sep 2019, 10:29 a.m.
Panel Version: 1.321
Comment on phenotypes: complex multisystem presentation;primary coenzyme Q10 deficiency
Created: 30 Sep 2019, 10:25 a.m. | Last Modified: 30 Sep 2019, 10:25 a.m.
Panel Version: 1.320
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated individuals and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Created: 23 May 2019, 1:28 p.m.
An additional variant has been reported in a 6‐year‐old girl who presents with spasticity and bilateral sensorineural hearing loss, together with supporting functional studies and mouse model.
Created: 30 Apr 2019, 12:50 p.m.

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added by reviewer who stated that there is one report in the literature - this should therefore be a red gene.
Created: 15 Feb 2016, 11:11 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 7 Feb 2016, 8:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

30 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: coq7 has been classified as Green List (High Evidence).

30 Sep 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COQ7 were changed from complex multisystem presentation; primary coenzyme Q10 deficiency to ?Coenzyme Q10 deficiency, primary, 8 616733

30 Sep 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COQ7 were set to PMID: 26084283

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: COQ7 was added gene: COQ7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 26084283 Phenotypes for gene: COQ7 were set to complex multisystem presentation; primary coenzyme Q10 deficiency