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Possible mitochondrial disorder - nuclear genes

Gene: PDSS2

Green List (high evidence)

PDSS2 (decaprenyl diphosphate synthase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000164494
EnsemblGeneIds (GRCh37): ENSG00000164494
OMIM: 610564, Gene2Phenotype
PDSS2 is in 13 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

Coenzyme Q10 deficiency, primary, 3, 614652

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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