Genomics England
GMS Panels
Panels
Genes and Entities

COX4I1

cytochrome c oxidase subunit 4I1
OMIM: 123864
PanelMode of inheritanceDetails
2 panels
Green
in Mitochondrial disorder with complex IV deficiency
R-numbers: R356
Signed-off version 3.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.69
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060