COXFA4

cytochrome c oxidase associated subunit FA4
OMIM: 603833, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green COXFA4 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Leigh syndrome Complex IV deficiency Tags new gene name
Green COXFA4 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	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 21, MIM#619065 Leigh syndrome Tags new gene name
Red COXFA4 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Leigh syndrome Complex IV deficiency
Green COXFA4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Tags new gene name
Red COXFA4 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065