COQ2

coenzyme Q2, polyprenyltransferase
OMIM: 609825, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green COQ2 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829
Green COQ2 in Proteinuria Level 2: Renal and urinary tract disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829
Green COQ2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829
Green COQ2 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	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, 1, MIM# 607426 MONDO:0011829
Green COQ2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber COQ2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM#607426
Green COQ2 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Coenzyme Q10 deficiency, primary, 1
Green COQ2 in Monogenic Diabetes Level 2: Endocrine disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes coenzyme Q10 deficiency, primary, 1 MONDO:0011829
Green COQ2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Coenzyme Q10 deficiency, primary, 1, 607426 (3)
Red COQ2 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Coenzyme Q10 deficiency, primary, 1
Red COQ2 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM#607426
Green COQ2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Coenzyme Q10 deficiency, primary, 1, 607426 (3)
Green COQ2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene BeginNGS Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 Tags treatable metabolic