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| Mendeliome v0.9162 | GPX1 | Zornitza Stark Marked gene: GPX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9162 | GPX1 | Zornitza Stark Gene: gpx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9162 | GPX1 |
Zornitza Stark gene: GPX1 was added gene: GPX1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPX1 were set to 1131421; 476008; 5766310; 2492138 Phenotypes for gene: GPX1 were set to Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164 Review for gene: GPX1 was set to RED Added comment: No individuals reported with GPX1 variants identified as the cause of Haemolytic anaemia due to glutathione peroxidase deficiency. Multiple papers report a number of cases of Haemolytic anaemia due to glutathione peroxidase deficiency, however there is no defined link or variant to GPX1 (PMID: 5766310. PMID: 1131421, PMID: 2492138, PMID: 476008) Overall, lowered glutathione peroxidase activity has been observed in a number of individuals with haemolytic anaemia however the evidence for a cause-and-effect relationship between the enzyme deficiency and the presenting anaemia is not evident. Sources: Expert Review |
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