Non-acute porphyriasGene: PPOX
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.
Created: 24 Jan 2019, 4:21 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PPOX; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 3:53 p.m.
Phenotypes for gene: PPOX were changed from Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 to Porphyria variegata OMIM:176200; variegate porphyria MONDO:0008297
Gene: ppox has been classified as Green List (High Evidence).
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
Source Expert Review Green was added to PPOX. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PPOX was added gene: PPOX was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: PPOX was set to