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Intellectual disability syndromic and non-syndromic

Gene: COQ4

Green List (high evidence)

COQ4 (coenzyme Q4)
EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 13 panels

1 review

Ken Lee Wan (Monash Health)

Green List (high evidence)

Phenotypic spectrum of biallelic pathogenic variants in the COQ4 gene includes neonatal-onset encephalopathy, infantile developmental delay and epilepsy with or without hypertrophic cardiomyopathy, childhood-onset ataxia with stroke-like episodes (PMID: 34656997).

Laugwitz et al reported global developmental delay in 44 patients from 36 families with 23 rare biallelic variants in COQ4. They did not identify biallelic loss-of-function variants. The 23 variants include a frameshift, a stop-gain, a splice donor, an in-frame deletion, 19 missense variants (PMID: 34656997).
Created: 2 Aug 2024, 4:34 a.m. | Last Modified: 2 Aug 2024, 4:34 a.m.
Panel Version: 0.6081

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
mitochondrial disease MONDO:0044970; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, MIM# 616276
  • neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562
Tags
treatable
OMIM
612898
Clinvar variants
Variants in COQ4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq4 has been classified as Green List (High Evidence).

2 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, MIM# 616276; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562

2 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, MIM# 616276 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562

2 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7, MIM# 616276

2 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COQ4 were set to 34656997

2 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COQ4 were set to

2 Aug 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COQ4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: COQ4.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COQ4 was added gene: COQ4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ4 was set to Unknown