Genomics England
GMS Panels
Panels
Genes and Entities

COX11

COX11, cytochrome c oxidase copper chaperone
OMIM: 603648
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275, Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520