PPOX

protoporphyrinogen oxidase
OMIM: 600923, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green PPOX 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 Variegate porphyria, OMIM:176200 Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, MONDO:0008297 Tags Q3_25_MOI
Green PPOX 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 Variegate porphyria, OMIM:176200 Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, MONDO:0008297 variegate porphyria, childhood-onset, MONDO:0957577 Tags Q3_25_MOI
Red PPOX 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
No list PPOX in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Removed Other Phenotypes 121300 618892 Tags curated_removed
Green PPOX in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Variegate porphyria (Acute neuropathic porphyrias) Porphyria variegata 176200
Green PPOX in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Variegate porphyria, OMIM:176200 Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, MONDO:0008297 variegate porphyria, childhood-onset, MONDO:0957577 Tags Q3_25_MOI
Green PPOX in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Variegate porphyria, OMIM:176200 Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, MONDO:0008297 variegate porphyria, childhood-onset, MONDO:0957577 Tags Q3_25_MOI
Green PPOX in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Porphyria variegata, 176200 Skin photosensitivity. Acute episodes similar to AIP
Amber PPOX in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, childhood-onset, MONDO:0957577 Tags Q3_25_promote_green
Amber PPOX in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, MONDO:0008297 Tags Q3_25_promote_green
Green PPOX in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Variegate porphyria, OMIM:176200 Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, MONDO:0008297 variegate porphyria, childhood-onset, MONDO:0957577 Tags Q3_25_MOI
Green PPOX in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, childhood-onset, MONDO:0957577 Tags Q3_25_MOI
Red PPOX in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green PPOX in Variegate porphyria Level 2: Gastrohepatology Version 1.4 Latest signed off version: v1.0 (14 Sep 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Variegate porphyria, OMIM:176200 Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, MONDO:0008297 variegate porphyria, childhood-onset, MONDO:0957577 Tags Q3_25_MOI