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| Fetal hydrops v1.63 | PKLR | Arina Puzriakova Classified gene: PKLR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.63 | PKLR |
Arina Puzriakova Added comment: Comment on list classification: Rating Green as non-immune hydrops fetalis reported in multiple cases of Pyruvate kinase deficiency. Green rating also inline with classification on equivalent GMS panel R21 Fetal anomalies (v3.0). |
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| Fetal hydrops v1.63 | PKLR | Arina Puzriakova Gene: pklr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.62 | PKLR | Arina Puzriakova Phenotypes for gene: PKLR were changed from Pyruvate Kinase deficiency to Pyruvate kinase deficiency, OMIM:266200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.16 | PKLR |
Zornitza Stark gene: PKLR was added gene: PKLR was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKLR were set to 29549173; 8285758; 10923218 Phenotypes for gene: PKLR were set to Pyruvate Kinase deficiency Review for gene: PKLR was set to GREEN gene: PKLR was marked as current diagnostic Added comment: PMID 29549173: A large cohort study (n=233) documented fetal anaemia requiring transfusion in 13% of affected fetuses and hydrops fetalis in 4%. Sources: Expert list |
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