COQ7:Ensemblv90

coenzyme Q7, hydroxylase
OMIM: 601683, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Amber COQ7 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.160 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Phenotypes Coenzyme Q10 deficiency, primary, 8, MIM#616733
Green COQ7 in Mendeliome Version 1.3802	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 8 MIM#616733 Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402
Green COQ7 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1299 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 8 MIM#616733
Red COQ7 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.17 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)
Green COQ7 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 1.130 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)
Green COQ7 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.45 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402
Green COQ7 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 8 - MIM#616733
Amber COQ7 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BeginNGS Phenotypes Coenzyme Q10 deficiency, primary, 8, MIM# 616733 Tags for review
Amber COQ7 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 1.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 8, MIM#616733
Red COQ7 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)
Green COQ7 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Literature Expert Review Green Phenotypes Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)
Green COQ7 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402
Amber COQ7 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Amber Phenotypes Coenzyme Q10 deficiency, primary, 8, MIM# 616733 Tags for review