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| Bleeding and Platelet Disorders v1.56 | NFE2 | Zornitza Stark Marked gene: NFE2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.56 | NFE2 | Zornitza Stark Gene: nfe2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.56 | NFE2 |
Zornitza Stark gene: NFE2 was added gene: NFE2 was added to Bleeding and Platelet Disorders. Sources: ClinGen Mode of inheritance for gene: NFE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFE2 were set to 31951293 Phenotypes for gene: NFE2 were set to thrombocytopenia MONDO:0002049, NFE2-related Review for gene: NFE2 was set to RED Added comment: Classified as Limited by Hemostasis Thrombosis GCEP on 16/06/2025 Homozygous frameshift variant reported in a single proband (c.952delA, p.T318fsX326 - absent in gnomAD v4.1). Sources: ClinGen |
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