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Intellectual disability

Gene: COQ5

Red List (low evidence)

COQ5 (coenzyme Q5, methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000110871
EnsemblGeneIds (GRCh37): ENSG00000110871
OMIM: 616359, Gene2Phenotype
COQ5 is in 4 panels

4 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note this additional recent paper
Created: 15 Jun 2018, 9:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Amber to Red. After further investigation, the 2 families reported are the same, so with only one family being reported, there is not enough evidence to support a green rating for this gene from external clinical review
Created: 10 Aug 2018, 12:42 p.m.
Comment on list classification: Changed from Red to Amber. Keep Amber until more cases are published to support gene-disease association
Created: 10 Aug 2018, 11:02 a.m.
Due to Green rating by expert reviewer this gene was reviewed again- although there initially seems to be two unrelated cases reported in the literature to date, PMID:21937992 (2011) details deep sequencing process, where COQ5 is found to be a novel ID gene, in the supplementary 2 table (no pedigree) the affected female siblings are notes as having severe ID (4 healthy siblings) and indicates the parents were 1st cousins. Although not listed in the supplementary data specific to the ethnicity of each family, the cohort is described as "136 consanguineous families with autosomal-recessive intellectual disability from Iran and elsewhere". Later in 2018 PMID:29044765 3 affected female siblings (4 healthy siblings) are reported, born to non-consanguineous parents of Iraqi-Jewish descent. However the pedigree shown indicates they were first degree cousins. It seems likely this is the same family as reported in 2011, so there is not enough evidence to rate Green as recommended by external expert review.
Created: 10 Aug 2018, 10:34 a.m.
Comment on phenotypes: Added phenotype from PMID: 29044765 cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. Malicdan MCV et al,. (2018) PMID 21937992 reported the first patients with encephalomyopa-thy, cerebellar ataxia, and additional findings in a multiplex non-consanguineous family with CoQ10 deficiency due to a biallelic duplication in COQ5.
Created: 10 Aug 2018, 10:19 a.m.
Comment on publications: Added publication suggested from external expert review to support upgrading of the gene- evidence to associated gene with ID
Created: 10 Aug 2018, 9:32 a.m.
Comment on publications: added publication 21937992
Created: 14 Mar 2018, 11:12 a.m.
Comment on publications: Candidate intellectual disability gene suggested by Najmabadi et al., (2011) PMID:19377476 and Grozeva et al, (2015) PMID: 26350204
Created: 1 Mar 2018, 2:50 p.m.
This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, however no evidence to date has been found to support the association between variants of this gene and an observed intellectual disability phenotype.
This gene is currently a possible DD gene in Gene2Phenotype for autosomal recessive intellectual disability Najmabadi et al., (2011) PMID:19377476.
Created: 1 Mar 2018, 2:49 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency
OMIM
616359
Clinvar variants
Variants in COQ5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to COQ5.

10 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: coq5 has been classified as Red List (Low Evidence).

10 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: coq5 has been classified as Amber List (Moderate Evidence).

10 Aug 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: COQ5 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency

10 Aug 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: COQ5 were set to 19377476; 26350204; 21937992; 29044765

14 Mar 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COQ5 were set to 19377476; 26350204; 21937992

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene COQ5 was set to ['19377476', '26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COQ5 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COQ5 was created by ellenmcdonagh