CPOX

coproporphyrinogen oxidase
OMIM: 612732, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CPOX in Non-acute porphyrias Version 1.24 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 Harderoporphyria OMIM:618892 harderoporphyria MONDO:0030048 Coproporphyria OMIM:121300 hereditary coproporphyria MONDO:0007369
Green CPOX in Cutaneous photosensitivity with a likely genetic cause Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Harderoporphyria 121300 Coproporphyria 121300 Hereditary coproporphyria (Acute neuropathic porphyrias)
Red CPOX in Vascular skin disorders Version 1.63 Latest signed off version: v1.3 (15 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red
Green CPOX in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary coproporphyria (Acute neuropathic porphyrias) Coproporphyria 121300 Harderoporphyria 121300 Tags treatable
Green CPOX 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Harderoporphyria 121300 Coproporphyria 121300 Hereditary coproporphyria (Acute neuropathic porphyrias)
Green CPOX in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Coproporphyria, 121300 Harderoporphyria, 121300 Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
Green CPOX in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Coproporphyria, 121300 Harderoporphyria, 121300 Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
Red CPOX in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green CPOX in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Harderoporphyria, 121300 Coproporphyria, 121300