COX15

COX15, cytochrome c oxidase assembly homolog
OMIM: 603646, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green COX15 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Amber COX15 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MIM#615119 and Leigh syndrome #256000
Green COX15 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 IV deficiency, nuclear type 6, MIM# 615119
Red COX15 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Green COX15 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Green COX15 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Expert Review Green
Green COX15 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorders
Green COX15 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Green COX15 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Leigh syndrome due to cytochrome c oxidase deficiency, 256000 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Amber COX15 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Green COX15 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Green COX15 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)