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| Haemophagocytic syndrome with absent XIAP expression v0.1 | XIAP | Achchuthan Shanmugasundram reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemophagocytic syndrome with absent XIAP expression v0.1 | XIAP |
Achchuthan Shanmugasundram gene: XIAP was added gene: XIAP was added to Haemophagocytic syndrome with absent XIAP expression. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Haemophagocytic syndrome with absent XIAP expression v0.0 |
Achchuthan Shanmugasundram Added Panel Haemophagocytic syndrome with absent XIAP expression Set list of related panels to R18 Set panel types to: GMS Rare Disease |
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