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Leukodystrophy - paediatric

Gene: COQ8A

Red List (low evidence)

COQ8A (coenzyme Q8A)
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 13 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

White matter changes don't appear to be a prominent feature of the condition.
Sources: Expert list
Created: 18 Jan 2020, 2:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 4 612016

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: COQ8A was added gene: COQ8A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 612016 Review for gene: COQ8A was set to RED