Activity
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10 actions
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| Rare anaemia v3.17 | PPOX | Sharon Whatley Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.17 | PPOX | Sharon Whatley Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.11 | PPOX | Achchuthan Shanmugasundram Classified gene: PPOX as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.11 | PPOX | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ida Ertmanska, PPOX gene is not relevant to Rare anaemia panel. Hence, the rating should be grey and 'curated_removed' tag added to reflect this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.11 | PPOX | Achchuthan Shanmugasundram Gene: ppox has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.10 | PPOX | Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: PPOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.10 | PPOX | Ida Ertmanska changed review comment from: The review by Sharon Whatley (International Porphyria Network) was resubmitted on the Rare anaemia panel with CPOX as the gene name.; to: The review by Sharon Whatley (International Porphyria Network) was resubmitted on the Rare anaemia panel with CPOX as the gene name. PPOX variants do not appear to cause anaemia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.10 | PPOX | Ida Ertmanska changed review comment from: The review by Sharon Whatley (International Porphyria Network) was resubmitted with CPOX as the gene name.; to: The review by Sharon Whatley (International Porphyria Network) was resubmitted on the Rare anaemia panel with CPOX as the gene name. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.10 | PPOX | Ida Ertmanska commented on gene: PPOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.10 | PPOX |
Sharon Whatley gene: PPOX was added gene: PPOX was added to Rare anaemia. Sources: Other Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PPOX were set to 38940544; 30828546; 9454777; 7757079; 40296768; 21103937 Phenotypes for gene: PPOX were set to 121300; 618892 Penetrance for gene: PPOX were set to Incomplete Review for gene: PPOX was set to GREEN Added comment: Relevant metabolic investigation: Plasma porphyrin fluorescence emission and faecal coproporphyrin isomer (III:I) ratio (for hereditary coproporphyria) and faecal harderoporphyrin (for harderoporphyria) PMID: 38940544 Aarsand reports that porphyrias are a group of rare inborn errors of metabolism caused by abnormal functioning of haem biosynthesis enzymes. Defects in the CPOX gene cause hereditary coproporphyria. PMID: 16159891 Schmitt reports that there are two very rare, homozygous forms of HCP one of which is characterised by the faecal excretion of harderoporphyrin. Harderoporphyria has predominantly haematological manifestations such as neonatal jaundice, haemolytic anaemia and hepatosplenomegaly. PMID: 30828546 Moghe, 9454777 Lamoril, 7757079 Lamoril, 40296768 Kelestemur, 21103937 Hasanoglu report eight patients (from five families) with biallelic pathogenic CPOX variants. They presented with neonatal jaundice, haemolytic anaemia and hepatosplenomegaly. PMID: 16159891 Schmitt reports that during childhood and adulthood, a mild residual anaemia is chronically observed in harderoporphyria patients. Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the CPOX gene, due to its low clinical penetrance (~0.4%). Sources: Other |
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