Mitochondrial disease
Gene: PDSS1

PDSS1 (decaprenyl diphosphate synthase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000148459
EnsemblGeneIds (GRCh37): ENSG00000148459
OMIM: 607429, Gene2Phenotype
PDSS1 is in 9 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 4 unrelated patients with CoQ10 deficiency reported in the literature with biallelic variants.
Created: 26 Dec 2020, 11:54 p.m. | Last Modified: 26 Dec 2020, 11:54 p.m.

Panel Version: 0.560

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 2 MIM#614651

Publications

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

Created: 26 Dec 2020, 11:54 p.m.
Last Modified: 26 Dec 2020, 11:54 p.m.
Panel version: 0.560

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Coenzyme Q10 deficiency, primary, 2 MIM#614651

OMIM

607429

Clinvar variants

Variants in PDSS1

Penetrance

None

Publications

Panels with this gene