White matter disorders and cerebral calcification - childhood onset
Gene: COQ9
COQ9 (coenzyme Q9)
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 5
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Mitochondrial Leukoencephalopathy
- OMIM
- 612837
- Clinvar variants
- Variants in COQ9
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neonatal diabetes
- Possible mitochondrial disorder, nuclear genes
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Undiagnosed metabolic disorders
- DDG2P
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Proteinuric renal disease
- Fetal anomalies
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
History Filter Activity
8 Jan 2019, Gel status: 2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COQ9 was added gene: COQ9 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ9 were set to 25655951; 19375058 Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy