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  2. Ataxia - paediatric
  3. COQ5
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Ataxia - paediatric

Gene: COQ5

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Only one reported family, without functional assays linking the gene to ataxia.
Sources: Expert list
Created: 16 Jan 2020, 5:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability

Publications

Created: 16 Jan 2020, 5:29 a.m.

Panel version: 0.24

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 27 Dec 2019, 9:38 p.m. | Last Modified: 27 Dec 2019, 9:38 p.m.
Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability

Publications

Created: 27 Dec 2019, 9:38 p.m.
Last Modified: 27 Dec 2019, 9:38 p.m.
Panel version: 0.259

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary 9, MIM#619028
  • Cerebellar ataxia
  • encephalopathy
  • generalized tonic-clonic seizures
  • intellectual disability
OMIM
616359
Clinvar variants
Variants in COQ5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COQ5 were changed from Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COQ5 was added gene: COQ5 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ5 were set to 29044765 Phenotypes for gene: COQ5 were set to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability Review for gene: COQ5 was set to RED