PDSS1

decaprenyl diphosphate synthase subunit 1
OMIM: 607429, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green PDSS1 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651
Amber PDSS1 in Optic Atrophy Level 2: Ophthalmological disorders Version 1.54 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Green PDSS1 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651
Red PDSS1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651
Amber PDSS1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Green PDSS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651
Red PDSS1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal
Red PDSS1 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651
Red PDSS1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red BeginNGS Phenotypes Coenzyme Q10 deficiency, primary, 2, MIM# 614651 Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal