UQCRQ

ubiquinol-cytochrome c reductase complex III subunit VII
OMIM: 612080, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber UQCRQ in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Amber UQCRQ in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Red UQCRQ in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Red UQCRQ in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mitochondrial complex III deficiency, nuclear type 4 OMIM #615159
Green UQCRQ in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
Red UQCRQ 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 Mitochondrial complex III deficiency
Red UQCRQ in Fetal anomalies Version 1.313	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Mitochondrial complex III deficiency, nuclear type 4, MIM #615159
Red UQCRQ in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
Red UQCRQ in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Mitochondrial complex III deficiency