Cerebral Palsy
Gene: COQ4EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 13 panels
1 review
Clare van Eyk (University of Adelaide)
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: LiteratureCreated: 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
- PMID: 39213953
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
-
- PMID: 39213953
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Ataxia - adult onset
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coq4 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coq4 has been classified as Red List (Low Evidence).
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