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Intellectual disability syndromic and non-syndromic

Gene: COQ2

Amber List (moderate evidence)

COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

On further review of the literature, there is poor documentation of intellectual disability as such in the molecularly confirmed cases. Presentation is much more commonly with renal or multi-system disease.
Created: 1 Feb 2020, 6:21 a.m. | Last Modified: 1 Feb 2020, 6:21 a.m.
Panel Version: 0.1876
Intellectual disability is part of the phenotype.
Created: 28 Nov 2019, 8:36 p.m. | Last Modified: 28 Nov 2019, 8:36 p.m.
Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 1, MIM#607426

History Filter Activity

1 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq2 has been classified as Amber List (Moderate Evidence).

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq2 has been classified as Green List (High Evidence).

28 Nov 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM#607426

28 Nov 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COQ2 was added gene: COQ2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ2 was set to Unknown