COX6B1

cytochrome c oxidase subunit 6B1
OMIM: 124089, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green COX6B1 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
Green COX6B1 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
Amber COX6B1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
Red COX6B1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
Amber COX6B1 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
Red COX6B1 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051