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| Lymphoproliferative syndrome with absent SAP expression v1.2 | SH2D1A | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #308240) and the OMIM record was last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoproliferative syndrome with absent SAP expression v1.2 | SH2D1A | Achchuthan Shanmugasundram Phenotypes for gene: SH2D1A were changed from to Lymphoproliferative syndrome, X-linked, 1, OMIM:308240; X-linked lymphoproliferative disease due to SH2D1A deficiency, MONDO:0024551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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