COX6A1

cytochrome c oxidase subunit 6A1
OMIM: 602072, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green COX6A1 in Mitochondrial disorder with complex IV deficiency Version 1.8 Signed off v.1.2 on 17 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Green COX6A1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.440	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Green COX6A1 in Inborn errors of metabolism Version 2.50 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Green COX6A1 in Possible mitochondrial disorder - nuclear genes Version 1.31 Signed off v.1.17 on 11 Nov 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Green COX6A1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Charcot Marie Tooth disease, recessive intermediate D, 616039
Green COX6A1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 2.14 Signed off v.2.4 on 17 Feb 2020 Component of the following Super Panels: White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Red COX6A1 in Cardiomyopathies - including childhood onset Version 1.18 Signed off v.1.4 on 19 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Green COX6A1 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Charcot Marie Tooth disease, recessive intermediate D, 616039
Red COX6A1 in Childhood onset dystonia or chorea or related movement disorder Version 1.74 Signed off v.1.58 on 6 Oct 2020	review	Not set	Sources Expert Review Red London North GLH
Green COX6A1 in Severe Paediatric Disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039