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Non-acute porphyrias v1.28 PPOX Achchuthan Shanmugasundram Phenotypes for gene: PPOX were changed from Porphyria variegata OMIM:176200; variegate porphyria MONDO:0008297 to Variegate porphyria, OMIM:176200; Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, MONDO:0008297
Non-acute porphyrias v1.27 PPOX Ida Ertmanska edited their review of gene: PPOX: Changed phenotypes to: Variegate porphyria, OMIM:176200, Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, MONDO:0008297; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Non-acute porphyrias v1.27 PPOX Achchuthan Shanmugasundram Publications for gene: PPOX were set to 27604308; 19460837; 9811936
Non-acute porphyrias v1.26 PPOX Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: PPOX.
Non-acute porphyrias v1.26 PPOX Ida Ertmanska Deleted their comment
Non-acute porphyrias v1.26 PPOX Ida Ertmanska changed review comment from: Comment on mode of inheritance: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with disease onset in adolescence or adulthood. Biallelic variants are known to cause Variegate Porphyria with a more severe, early-onset phenotype - skin lesions, along with neurologic and/ or neurodevelopmental symptoms. Since biallelic variants in PPOX cause more severe symptoms, the mode of inheritance for Non-acute porphyrias should be set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.; to: Comment on mode of inheritance: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with disease onset in adolescence or adulthood (PMIDs: 19460837, 38940544). Biallelic variants are known to cause Variegate Porphyria with a more severe, early-onset phenotype - skin lesions, along with neurologic and/ or neurodevelopmental symptoms.
PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025.
Based on available evidence, the mode of inheritance for Non-acute porphyrias should be set to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'.
Non-acute porphyrias v1.26 PPOX Ida Ertmanska changed review comment from: Comment on list classification: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with onset in adolescence or adulthood (PMIDs: 19460837, 38940544). PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025. Based on the available evidence, this gene should be rated Green for Non-acute porphyrias.; to: Comment on list classification: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with onset in adolescence or adulthood (PMIDs: 19460837, 38940544). . Based on the available evidence, this gene should be rated Green for Non-acute porphyrias.
Non-acute porphyrias v1.26 PPOX Ida Ertmanska commented on gene: PPOX: Comment on list classification: Monoallelic PPOX variants usually result in Variegate Porphyria limited to cutaneous manifestations, with onset in adolescence or adulthood (PMIDs: 19460837, 38940544). PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025. Based on the available evidence, this gene should be rated Green for Non-acute porphyrias.
Non-acute porphyrias v1.26 PPOX Ida Ertmanska edited their review of gene: PPOX: Changed publications to: 9811936, 10486317, 19460837, 33159949, 35584894, 37879139, 38940544, 40114189
Non-acute porphyrias v1.26 PPOX Ida Ertmanska reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 10486317, 33159949, 35584894, 37879139, 38940544, 40114189; Phenotypes: Variegate porphyria, OMIM:176200, variegate porphyria, MONDO:0008297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-acute porphyrias v1.26 PPOX Sharon Whatley commented on gene: PPOX: Relevant metabolic investigation: plasma porphyrin fluorescence emission
PMID: 10486317 Whatley reports that variegate porphyria (VP) is usually classified as an acute porphyria but in 59% of cases skin lesions may be the only manifestation.
PMID: 38940544 Aarsand reports that VP is an autosomal dominant disorder and estimates that individuals with a predisposition for VP in the general population is 1/3,000 (except where founder effects occur e.g. South Africa). A rough estimate of the penetrance of pathogenic variants in this gene is given as 1%. Due to this low penetrance, genetic testing alone may be misleading and cause misdiagnosis. IPNET advises that VP is diagnosed based on biochemical testing including analysis of plasma porphyrin fluorescence emission as the clinical penetrance is so low.
PMID: 37879139 Assaleh reports that biallelic VP is rare. To the best of our knowledge there are 25 patients (21 families) reported with homozygous VP (PMID: 40114189 Kaiser, 37879139 Assaleh, 33159949 Cho and references therein). It usually presents in infancy with severe cutaneous manifestations. In some cases, patients may have hand deformities, nystagmus, growth delay and intellectual disability.
Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the PPOX gene, due to its low clinical penetrance.
Non-acute porphyrias v1.26 PPOX Sharon Whatley Deleted their comment
Non-acute porphyrias v1.26 PPOX Sharon Whatley reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 35584894, 10486317, 38940544, 37879139; Phenotypes: 176200, 620483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Non-acute porphyrias v1.16 PPOX Sarah Leigh Phenotypes for gene: PPOX were changed from Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 to Porphyria variegata OMIM:176200; variegate porphyria MONDO:0008297
Non-acute porphyrias v0.11 PPOX Ivone Leong Marked gene: PPOX as ready
Non-acute porphyrias v0.11 PPOX Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Non-acute porphyrias v0.11 PPOX Ivone Leong Gene: ppox has been classified as Green List (High Evidence).
Non-acute porphyrias v0.7 PPOX Ivone Leong Source Other was added to PPOX.
Mode of inheritance for gene PPOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 for gene: PPOX
Publications for gene PPOX were changed from to 27604308; 19460837; 9811936
Non-acute porphyrias v0.4 PPOX Ivone Leong Source Expert Review Green was added to PPOX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.3 PPOX Ivone Leong reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.2 PPOX Ivone Leong gene: PPOX was added
gene: PPOX was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: PPOX was set to