COX16

COX16, cytochrome c oxidase assembly homolog
Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber COX16 in Mitochondrial disorder with complex IV deficiency Version 3.21 Latest signed off version: v3.20 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355 Hypertrophic cardiomyopathy Encephalopathy Severe fatal lactic acidosis Tags gene-checked
Amber COX16 in Possible mitochondrial disorder - nuclear genes Version 3.106 Latest signed off version: v3.105 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355 Hypertrophic cardiomyopathy Encephalopathy Severe fatal lactic acidosis Tags gene-checked
Green COX16 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COX16-related Developmental Disorder Tags gene-checked
Amber COX16 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355 Hypertrophic cardiomyopathy Encephalopathy Severe fatal lactic acidosis Tags watchlist gene-checked