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| Disorders of immune dysregulation v0.56 | POMP | Zornitza Stark Marked gene: POMP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.56 | POMP | Zornitza Stark Gene: pomp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.56 | POMP | Zornitza Stark Classified gene: POMP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.56 | POMP | Zornitza Stark Gene: pomp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.55 | POMP |
Zornitza Stark gene: POMP was added gene: POMP was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POMP were set to 29805043 Phenotypes for gene: POMP were set to Combined immunodeficiency; Autoinflammation Review for gene: POMP was set to GREEN Added comment: Two unrelated individuals, functional data. Truncating variants in penultimate exon, escape NMD, postulated to act through a dominant negative mechanism. Sources: Expert list |
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