Activity
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10 actions
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| Factor V deficiency v1.2 | F5 | Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #227400) and the OMIM record was last accessed on 18 October 2025.; to: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #227400) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Factor V deficiency v1.2 | F5 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #227400) and the OMIM record was last accessed on 18 October 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Factor V deficiency v1.2 | F5 | Achchuthan Shanmugasundram Phenotypes for gene: F5 were changed from to Factor V deficiency, OMIM:227400; congenital factor V deficiency, MONDO:0009210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Factor V deficiency v1.1 | Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Factor V deficiency v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Factor V deficiency v0.3 | Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Factor V deficiency v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Factor V deficiency v0.1 | F5 | Achchuthan Shanmugasundram reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Factor V deficiency v0.1 | F5 |
Achchuthan Shanmugasundram gene: F5 was added gene: F5 was added to Factor V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Factor V deficiency v0.0 |
Achchuthan Shanmugasundram Added Panel Factor V deficiency Set list of related panels to R115 Set panel types to: GMS Rare Disease |
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