PDSS1

decaprenyl diphosphate synthase subunit 1
OMIM: 607429, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber PDSS1 in Optic neuropathy Level 2: Ophthalmology Version 5.48 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Coenzyme Q10 deficiency, primary, 2, OMIM:614651 Tags watchlist
Green PDSS1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 2, 614651
Green PDSS1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis
Green PDSS1 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651
Amber PDSS1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 2
Green PDSS1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 2 614651
Amber PDSS1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Coenzyme Q10 deficiency, primary, 2, OMIM:614651 Tags watchlist
Green PDSS1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2
Green PDSS1 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 2, 614651
Green PDSS1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 2, OMIM:614651 deafness-encephaloneuropathy-obesity-valvulopathy syndromeMONDO:0013837
Red PDSS1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH