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| Red cell disorders v0.149 | EPAS1 | Zornitza Stark Marked gene: EPAS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.149 | EPAS1 | Zornitza Stark Gene: epas1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.149 | EPAS1 | Zornitza Stark Classified gene: EPAS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.149 | EPAS1 | Zornitza Stark Gene: epas1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.148 | EPAS1 |
Zornitza Stark gene: EPAS1 was added gene: EPAS1 was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPAS1 were set to 18184961; 18378852; 22367913; 18650473 Phenotypes for gene: EPAS1 were set to Erythrocytosis, familial, 4, MIM# 611783 Mode of pathogenicity for gene: EPAS1 was set to Other Review for gene: EPAS1 was set to GREEN Added comment: Most mutations are gain-of-function missense variants in exon 12, but variants in exon 9 have also been described, in association with paraganglioma. Sources: Expert list |
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