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  2. Liver Failure_Paediatric
  3. COQ2
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Liver Failure_Paediatric

Gene: COQ2

Red List (low evidence)
COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Manifestations of this disorder are principally encephalomyopathic and renal, however at least one report of liver failure.
Sources: Expert list
Created: 1 Nov 2020, 8:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 1, MIM#607426

Publications

Created: 1 Nov 2020, 8:45 p.m.

Panel version: 0.62

History Filter Activity

1 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq2 has been classified as Red List (Low Evidence).

1 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COQ2 was added gene: COQ2 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ2 were set to 17332895 Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM#607426 Review for gene: COQ2 was set to RED