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  3. COQ9
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Leukodystrophy - paediatric

Gene: COQ9

Red List (low evidence)
COQ9 (coenzyme Q9)
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

White matter changes are not reported as a prominent feature of the condition.
Sources: Expert list
Created: 18 Jan 2020, 3:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 5 614654

Created: 18 Jan 2020, 3:03 a.m.

Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5 614654
OMIM
612837
Clinvar variants
Variants in COQ9
Penetrance
None
Panels with this gene

History Filter Activity

18 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COQ9 was added gene: COQ9 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 614654 Review for gene: COQ9 was set to RED