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Cerebral Palsy

Gene: COQ4

Red List (low evidence)

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

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

Two individuals with homozygous p.Thr77Ile variant reported in a monocentric cohort study (PMID: 39213953), both with spastic diplegia, DD but one also with hearing loss.
Sources: Literature
Created: 3 Sep 2024, 3:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, MIM#616276; Spastic ataxia 10, autosomal recessive, MIM#620666

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Coenzyme Q10 deficiency, primary, MIM#616276
  • Spastic ataxia 10, autosomal recessive, MIM#620666
OMIM
612898
Clinvar variants
Variants in COQ4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq4 has been classified as Red List (Low Evidence).

24 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq4 has been classified as Red List (Low Evidence).

3 Sep 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: COQ4 was added gene: COQ4 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to PMID: 39213953 Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, MIM#616276; Spastic ataxia 10, autosomal recessive, MIM#620666 Review for gene: COQ4 was set to RED