Genomics England
GMS Panels
Panels
Genes and Entities

COX18

COX18, cytochrome c oxidase assembly factor
OMIM: 610428
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.30
BIALLELIC, autosomal or pseudoautosomal
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
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
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
in Mitochondrial disorders
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
Signed-off version 10.18
BIALLELIC, autosomal or pseudoautosomal
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