Activity
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9 actions
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| SCID with features of gamma chain deficiency v1.2 | IL2RG | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #300400 & #312863) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SCID with features of gamma chain deficiency v1.2 | IL2RG | Achchuthan Shanmugasundram Phenotypes for gene: IL2RG were changed from to Severe combined immunodeficiency, X-linked, OMIM:300400; Combined immunodeficiency, X-linked, moderate, OMIM:312863; T-B+ severe combined immunodeficiency due to gamma chain deficiency, MONDO:0010315; combined immunodeficiency, X-linked, MONDO:0010730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SCID with features of gamma chain deficiency v1.1 | Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SCID with features of gamma chain deficiency v1.0 | Mafalda Gomes promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SCID with features of gamma chain deficiency v0.3 | Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SCID with features of gamma chain deficiency v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SCID with features of gamma chain deficiency v0.1 | IL2RG | Achchuthan Shanmugasundram reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SCID with features of gamma chain deficiency v0.1 | IL2RG |
Achchuthan Shanmugasundram gene: IL2RG was added gene: IL2RG was added to SCID with features of gamma chain deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| SCID with features of gamma chain deficiency v0.0 |
Achchuthan Shanmugasundram Added Panel SCID with features of gamma chain deficiency Set list of related panels to R235 Set panel types to: GMS Rare Disease |
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