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Likely inborn error of metabolism v8.82 PPOX Achchuthan Shanmugasundram Phenotypes for gene: PPOX were changed from Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias) to Variegate porphyria, OMIM:176200; Variegate porphyria, childhood-onset, OMIM:620483; variegate porphyria, MONDO:0008297; variegate porphyria, childhood-onset, MONDO:0957577
Likely inborn error of metabolism v8.81 PPOX Achchuthan Shanmugasundram Publications for gene: PPOX were set to 27604308; 19460837; 9811936
Likely inborn error of metabolism v8.80 PPOX Achchuthan Shanmugasundram changed review comment from: 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: nystagmus, epileptic seizures, developmental delay, intellectual disability, and sensory neuropathy (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189).

PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 13th October 2025.

Hence, the mode of inheritance should be set to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' on this panel.; to: 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: nystagmus, epileptic seizures, developmental delay, intellectual disability, and sensory neuropathy (PMIDs: 8290408; 9811936; 2004012; 35164799; 37879139; 40114189).

PPOX is associated with AD Variegate porphyria (176200) and AR Variegate porphyria, childhood onset (620483) in OMIM - accessed 28th October 2025.

Hence, the mode of inheritance should be set to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' on this panel.
Likely inborn error of metabolism v8.80 PPOX Achchuthan Shanmugasundram edited their review of gene: PPOX: Changed publications to: 9540991, 9811936, 10870850, 12859407, 25778941, 30476629, 32247286, 33159949, 35584894, 37879139, 38940544, 40114189; Changed phenotypes to: Variegate porphyria, OMIM:176200, Variegate porphyria, childhood-onset, OMIM:620483, variegate porphyria, MONDO:0008297, variegate porphyria, childhood-onset, MONDO:0957577
Likely inborn error of metabolism v8.80 PPOX Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: PPOX.
Likely inborn error of metabolism v8.80 PPOX Achchuthan Shanmugasundram reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism v2.91 PPOX Eleanor Williams Source: Expert Review Red was removed from gene: PPOX
Likely inborn error of metabolism v1.47 PPOX Ivone Leong Source NHS GMS was added to PPOX.
Source London North GLH was added to PPOX.
Likely inborn error of metabolism v0.4 PPOX Ellen McDonagh gene: PPOX was added
gene: PPOX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PPOX were set to 27604308; 19460837; 9811936
Phenotypes for gene: PPOX were set to Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias)