Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: COQ4

No list

COQ4 (coenzyme Q4)
EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 12 panels

1 review

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

The phenotype of COQ4 deficiency is very broad. In the three publications, at 6 individuals from 4 families are reported as having childhood onset ataxia.
Sources: Literature
Created: 1 Dec 2021, 11:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Childhood onset ataxia

Publications

History Filter Activity

1 Dec 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

gene: COQ4 was added gene: COQ4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to PMID: 30225196; 33704555; 30847826 Phenotypes for gene: COQ4 were set to Childhood onset ataxia Penetrance for gene: COQ4 were set to Complete Review for gene: COQ4 was set to GREEN