PDSS2

decaprenyl diphosphate synthase subunit 2
OMIM: 610564, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green PDSS2 in Mendeliome Version 1.2512	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 3 MIM#614652
Green PDSS2 in Proteinuria Level 2: Renal and urinary tract disorders Version 0.229 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber PDSS2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.145 Component of the following Super Panels: Progressive Neurological Conditions	review	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Coenzyme Q10 deficiency, primary, 3, MIM#614652
Green PDSS2 in Mitochondrial disease Level 2: Metabolic disorders Version 0.973 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green
Green PDSS2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.577	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red PDSS2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.118	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Coenzyme Q10 deficiency, primary, 3 MIM#614652
Red PDSS2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Leigh syndrome with nephropathy and COQ10 deficiency
Red PDSS2 in Fetal anomalies Version 1.321	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Coenzyme Q10 deficiency, primary, 3 MIM#614652
Red PDSS2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.117	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red BeginNGS Phenotypes Coenzyme Q10 deficiency, primary, 3, MIM# 614652 Leigh syndrome with nephropathy and COQ10 deficiency