COQ8A

coenzyme Q8A
OMIM: 606980, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green COQ8A in Mendeliome Version 1.2656	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Red COQ8A 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 Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 4, MIM#612016
Green COQ8A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.157 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016
Green COQ8A in Mitochondrial disease Level 2: Metabolic disorders Version 0.975 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Tags treatable
Green COQ8A in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.581	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green COQ8A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.174	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes coenzyme Q10 deficiency MONDO:0018151 Tags treatable
Green COQ8A in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.38 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Primary coenzyme Q10 deficiency 4, 612016 Spinocerebellar Ataxia Type Coenzyme Q10 deficiency, primary 4, 612016 Tags treatable
Green COQ8A in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.280 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4, MIM# 612016 Tags treatable
Red COQ8A in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.321 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4 612016
Green COQ8A in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.25 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green COQ8A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016 (3)
Green COQ8A in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016 (3)
Green COQ8A in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Coenzyme Q10 deficiency, primary, 4, MIM# 612016 Tags treatable metabolic