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| Facioscapulohumeral muscular dystrophy - extended testing v1.1 | Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facioscapulohumeral muscular dystrophy - extended testing v1.0 | Achchuthan Shanmugasundram promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facioscapulohumeral muscular dystrophy - extended testing v0.3 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facioscapulohumeral muscular dystrophy - extended testing v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facioscapulohumeral muscular dystrophy - extended testing v0.1 | SMCHD1 | Arina Puzriakova Tag digenic tag was added to gene: SMCHD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facioscapulohumeral muscular dystrophy - extended testing v0.1 | SMCHD1 | Achchuthan Shanmugasundram reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facioscapulohumeral muscular dystrophy - extended testing v0.1 | SMCHD1 |
Achchuthan Shanmugasundram gene: SMCHD1 was added gene: SMCHD1 was added to Facioscapulohumeral muscular dystrophy - extended testing. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Facioscapulohumeral muscular dystrophy - extended testing v0.0 |
Achchuthan Shanmugasundram Added Panel Facioscapulohumeral muscular dystrophy - extended testing Set list of related panels to R345 Set panel types to: GMS Rare Disease |
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