CPOX

coproporphyrinogen oxidase
OMIM: 612732, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CPOX in Non-acute porphyrias Level 2: Gastrohepatology Version 1.35 Latest signed off version: v1.4 (15 Oct 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Coproporphyria, OMIM:121300 Harderoporphyria, OMIM:618892 Tags Q3_25_MOI Q3_25_expert_review
Green CPOX in Cutaneous photosensitivity with a likely genetic cause Level 2: Dermatology Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Coproporphyria, OMIM:121300 Harderoporphyria, OMIM:618892 Tags Q3_25_MOI Q3_25_expert_review
Red CPOX in Vascular skin disorders Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red
Amber CPOX in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Coproporphyria, OMIM:121300 Harderoporphyria, OMIM:618892 Tags Q3_25_promote_green
Green CPOX in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coproporphyria, OMIM:121300 Harderoporphyria, OMIM:618892 Tags treatable
Green CPOX in Likely inborn error of metabolism Level 2: Metabolic Version 8.103 Latest signed off version: v8.0 (30 Apr 2025) 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 London North GLH NHS GMS Expert Review Green Phenotypes Coproporphyria, OMIM:121300 Harderoporphyria, OMIM:618892
Amber CPOX in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Harderoporphyria, OMIM:618892
Green CPOX in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.508	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Coproporphyria, OMIM:121300 Harderoporphyria, OMIM:618892
Green CPOX in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.45 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Coproporphyria, OMIM:121300 Harderoporphyria, OMIM:618892
Red CPOX in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH