COX18

COX18, cytochrome c oxidase assembly factor
OMIM: 610428, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber COX18 in Mitochondrial disorder with complex IV deficiency Level 2: Mitochondrial Version 5.5 Latest signed off version: v5.4 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes mitochondrial disease, MONDO:0044970 Charcot-Marie-Tooth disease, MONDO:0015626 ?Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487 Charcot-Marie-Tooth disease, axonal, type 2MM, OMIM:621488 Tags Q3_25_promote_green
Green COX18 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes mitochondrial disease, MONDO:0044970 Charcot-Marie-Tooth disease, MONDO:0015626 ?Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487 Charcot-Marie-Tooth disease, axonal, type 2MM, OMIM:621488
Amber COX18 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.23 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes mitochondrial disease, MONDO:0044970 Charcot-Marie-Tooth disease, MONDO:0015626 ?Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487 Charcot-Marie-Tooth disease, axonal, type 2MM, OMIM:621488 Tags Q3_25_promote_green
Red COX18 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes COX18-related peripheral neuropathy
Green COX18 in Mitochondrial disorders Level 2: Mitochondrial Version 10.23 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes mitochondrial disease, MONDO:0044970 Charcot-Marie-Tooth disease, MONDO:0015626 ?Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487 Charcot-Marie-Tooth disease, axonal, type 2MM, OMIM:621488
Green COX18 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.32 Latest signed off version: v8.30 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes mitochondrial disease, MONDO:0044970 Charcot-Marie-Tooth disease, MONDO:0015626 ?Mitochondrial complex IV deficiency, nuclear type 25, OMIM:621487 Charcot-Marie-Tooth disease, axonal, type 2MM, OMIM:621488