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| Bleeding and Platelet Disorders v1.47 | PIGA |
Jane Lin changed review comment from: PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes. Sources: Expert list; to: PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes. Sources: Expert list Note: a few publications on constitutive PIGA mutations don't describe thrombosis as part of the phenotype. Note that homozygous/hemizygous mutations are rare and quite lethal. PMID: 22305531 PMID: 34875027 |
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| Bleeding and Platelet Disorders v1.47 | PIGA | Zornitza Stark Marked gene: PIGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.47 | PIGA | Zornitza Stark Gene: piga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.47 | PIGA | Zornitza Stark Phenotypes for gene: PIGA were changed from PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818 to Paroxysmal nocturnal hemoglobinuria, somatic, MIM# 300818 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.46 | PIGA | Zornitza Stark Classified gene: PIGA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.46 | PIGA | Zornitza Stark Gene: piga has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.45 | PIGA | Zornitza Stark Tag somatic tag was added to gene: PIGA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.43 | PIGA |
Jane Lin gene: PIGA was added gene: PIGA was added to Bleeding and Platelet Disorders. Sources: Expert list Mode of inheritance for gene: PIGA was set to Unknown Publications for gene: PIGA were set to PMID: 9019395; PMID: 28516949 Phenotypes for gene: PIGA were set to PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818 Review for gene: PIGA was set to RED gene: PIGA was marked as current diagnostic Added comment: PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes. Sources: Expert list |
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