COX6A1

cytochrome c oxidase subunit 6A1
OMIM: 602072
PanelMode of inheritanceDetails
5 panels
R-numbers: R78
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, recessive intermediate D, 616039
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, recessive intermediate D, 616039
R-numbers: R356
Signed-off version 3.20
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, recessive intermediate D, 616039
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, recessive intermediate D, 616039