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| Cutaneous photosensitivity with a likely genetic cause v3.16 | UROD | Sharon Whatley reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38940544, 38813949, 39644053, 30683557, 12735639, 24780981, 33085356, 19233912, 26789143, 12735639, 6112327, 24175354, 40534320; Phenotypes: Porphyria cutanea tarda OMIM:176100, Hepatoerythropoietic porphyria OMIM:176100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v3.9 | 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. 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' for Variegate porphyria.; 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. Biallelic variants are known to cause Variegate Porphyria with a more severe, early-onset phenotype - skin lesions along with neurologic and/ or neurodevelopmental symptoms. 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' for Cutaneous photosensitivity with a likely genetic cause. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.11 | UROD |
Catherine Snow Source Expert Review Green was added to UROD. Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cutaneous photosensitivity with a likely genetic cause v0.10 | UROD | Catherine Snow reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cutaneous photosensitivity with a likely genetic cause v0.9 | UROD |
Catherine Snow gene: UROD was added gene: UROD was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) |
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