White matter disorders and cerebral calcification - narrow panel
Gene: COQ2

COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

General Leukodystrophy & Mitochondrial Leukoencephalopathy
Coenzyme Q10 deficiency, primary, 1, OMIM:607426

OMIM

609825

Clinvar variants

Variants in COQ2

Penetrance

None

Publications

25655951

Panels with this gene

History Filter Activity

3 Aug 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COQ2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1 to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1, OMIM:607426

8 Jan 2019, Gel status: 4

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: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COQ2 was added gene: COQ2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ2 were set to 25655951 Phenotypes for gene: COQ2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1

White matter disorders and cerebral calcification - narrow panel Gene: COQ2