Cutaneous photosensitivity with a likely genetic causeGene: PPOX
Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.10
Source Expert Review Green was added to PPOX. Added phenotypes Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias) for gene: PPOX Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PPOX was added gene: PPOX was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PPOX were set to Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias)