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| Facioscapulohumeral muscular dystrophy - extended testing v1.2 | SMCHD1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #158901) and the OMIM record was last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facioscapulohumeral muscular dystrophy - extended testing v1.2 | SMCHD1 | Achchuthan Shanmugasundram Phenotypes for gene: SMCHD1 were changed from to Facioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901; facioscapulohumeral muscular dystrophy 2, MONDO:0008031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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