COX5A

cytochrome c oxidase subunit 5A
OMIM: 603773, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber COX5A in Mitochondrial disorder with complex IV deficiency Version 3.20 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags Q4_23_promote_green
Amber COX5A in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags Q4_23_promote_green
Amber COX5A in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags Q4_23_promote_green Q4_23_NHS_review
Amber COX5A in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags Q4_23_promote_green