Activity
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10 actions
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| Wiskott-Aldrich syndrome v1.3 | WAS | Achchuthan Shanmugasundram Phenotypes for gene: WAS were changed from Wiskott-Aldrich syndrome, OMIM:301000; Wilson disease, MONDO:0010200 to Wiskott-Aldrich syndrome, OMIM:301000; Wiskott-Aldrich syndrome, MONDO:0010518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wiskott-Aldrich syndrome v1.2 | WAS | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #301000) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wiskott-Aldrich syndrome v1.2 | WAS | Achchuthan Shanmugasundram Phenotypes for gene: WAS were changed from to Wiskott-Aldrich syndrome, OMIM:301000; Wilson disease, MONDO:0010200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wiskott-Aldrich syndrome v1.1 | Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wiskott-Aldrich syndrome v1.0 | Mafalda Gomes promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wiskott-Aldrich syndrome v0.3 | Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wiskott-Aldrich syndrome v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wiskott-Aldrich syndrome v0.1 | WAS | Achchuthan Shanmugasundram reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wiskott-Aldrich syndrome v0.1 | WAS |
Achchuthan Shanmugasundram gene: WAS was added gene: WAS was added to Wiskott-Aldrich syndrome. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Wiskott-Aldrich syndrome v0.0 |
Achchuthan Shanmugasundram Added Panel Wiskott-Aldrich syndrome Set list of related panels to R20 Set panel types to: GMS Rare Disease |
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