UQCRB

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green UQCRB in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158
Green UQCRB in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158
Green UQCRB in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green UQCRB in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red UQCRB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mitochondrial complex III deficiency, nuclear type 3 OMIM #615158
Amber UQCRB in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158
Red UQCRB in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Mitochondrial complex III deficiency
Red UQCRB in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Mitochondrial complex III deficiency, nuclear type 3, MIM #615158
Red UQCRB in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Mitochondrial complex III deficiency