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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 v1.18 UROD Sarah Leigh Phenotypes for gene: UROD were changed from Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) to Porphyria cutanea tarda OMIM:176100; Porphyria, hepatoerythropoietic OMIM:176100; familial porphyria cutanea tarda MONDO:0008296
Non-acute porphyrias v1.17 UROD Sarah Leigh Publications for gene: UROD were set to 27604308
Non-acute porphyrias v0.11 UROD Ivone Leong Marked gene: UROD as ready
Non-acute porphyrias v0.11 UROD 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 UROD Ivone Leong Gene: urod has been classified as Green List (High Evidence).
Non-acute porphyrias v0.7 UROD Ivone Leong Source Other was added to UROD.
Mode of inheritance for gene UROD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD
Publications for gene UROD were changed from to 27604308
Non-acute porphyrias v0.4 UROD Ivone Leong Source Expert Review Green was added to UROD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.3 UROD Ivone Leong reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.2 UROD Ivone Leong gene: UROD was added
gene: UROD was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: UROD was set to