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Intellectual disability syndromic and non-syndromic

Gene: COQ8A

Green List (high evidence)

COQ8A (coenzyme Q8A)
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 13 panels

1 review

Ken Lee Wan (Monash Health)

Green List (high evidence)

Seizures and cognitive involvement are variable findings. (MIM: 612016)

Galosi et al reviewed 47 patients with COQ8A variants reported in the literature, 8 patients presented with developmental delay (PMID: 31621627).

Mutlu-Albayrak et al reported homozygous frameshift variant in 4 patients from 3 families with slowly progressive ataxia and intellectual disability (PMID: 31741144).
Created: 2 Aug 2024, 4:58 a.m. | Last Modified: 2 Aug 2024, 4:58 a.m.
Panel Version: 0.6089

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
coenzyme Q10 deficiency MONDO:0018151

Publications

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

History Filter Activity

7 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq8a has been classified as Green List (High Evidence).

7 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COQ8A were changed from to coenzyme Q10 deficiency MONDO:0018151

7 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COQ8A were set to

7 Aug 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COQ8A 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: COQ8A.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COQ8A was added gene: COQ8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ8A was set to Unknown