Activity
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9 actions
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| Familial dysalbuminaemic hyperthyroxinaemia v1.2 | ALB | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #615999) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysalbuminaemic hyperthyroxinaemia v1.2 | ALB | Achchuthan Shanmugasundram Phenotypes for gene: ALB were changed from to [Dysalbuminemic hyperthyroxinemia], OMIM:615999; hyperthyroxinemia, familial dysalbuminemic, MONDO:0014448 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysalbuminaemic hyperthyroxinaemia v1.1 | Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysalbuminaemic hyperthyroxinaemia v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysalbuminaemic hyperthyroxinaemia v0.3 | Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysalbuminaemic hyperthyroxinaemia v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysalbuminaemic hyperthyroxinaemia v0.1 | ALB | Achchuthan Shanmugasundram reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial dysalbuminaemic hyperthyroxinaemia v0.1 | ALB |
Achchuthan Shanmugasundram gene: ALB was added gene: ALB was added to Familial dysalbuminaemic hyperthyroxinaemia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ALB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Familial dysalbuminaemic hyperthyroxinaemia v0.0 |
Achchuthan Shanmugasundram Added Panel Familial dysalbuminaemic hyperthyroxinaemia Set list of related panels to R329 Set panel types to: GMS Rare Disease |
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