UQCRB

ubiquinol-cytochrome c reductase binding protein
OMIM: 191330, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green UQCRB in Mitochondrial disorder with complex III deficiency Level 2: Mitochondrial Version 2.7 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Green UQCRB in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Green UQCRB in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex III deficiency
Green UQCRB in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Amber UQCRB in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Green UQCRB in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED 257827
Red UQCRB in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Green UQCRB in Mitochondrial disorders Level 2: Mitochondrial Version 9.46 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Red UQCRB in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.99 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Red UQCRB in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH