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| Lymphoproliferative syndrome with absent SAP expression v0.1 | SH2D1A | Achchuthan Shanmugasundram reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoproliferative syndrome with absent SAP expression v0.1 | SH2D1A |
Achchuthan Shanmugasundram gene: SH2D1A was added gene: SH2D1A was added to Lymphoproliferative syndrome with absent SAP expression. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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