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Possible mitochondrial disorder - nuclear genes

Gene: PDSS1

Green List (high evidence)

PDSS1 (decaprenyl diphosphate synthase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000148459
EnsemblGeneIds (GRCh37): ENSG00000148459
OMIM: 607429, Gene2Phenotype
PDSS1 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, 2, 614651

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two unrelated families/cases reported, but known to encode protein with role in CoQ10 synthesis pathway. It is a probable DD gene for Coenzyme Q10 deficiency, primary, 2, and expert reviewer suggests it should be green.
Created: 22 Apr 2016, 9:34 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 1:43 p.m.
Comment on list classification: Promoted from red due to expert review, and it is a probable DD gene for Coenzyme Q10 deficiency, primary, 2.
Created: 2 Mar 2016, 1:42 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 publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PDSS1 was added gene: PDSS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 22494076 Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, 614651