Possible mitochondrial disorder - nuclear genes
Gene: PDSS2

PDSS2 (decaprenyl diphosphate synthase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000164494
EnsemblGeneIds (GRCh37): ENSG00000164494
OMIM: 610564, Gene2Phenotype
PDSS2 is in 11 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 3, 614652

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for coezyme Q10 deficiency.
Created: 2 Mar 2016, 1:46 p.m.

Created: 2 Mar 2016, 1:46 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.458

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Coenzyme Q10 deficiency, primary, 3, 614652

OMIM

610564

Clinvar variants

Variants in PDSS2

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PDSS2 was added gene: PDSS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, 614652

Possible mitochondrial disorder - nuclear genes Gene: PDSS2