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| Sitosterolaemia v1.2 | ABCG5 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #618666) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sitosterolaemia v1.2 | ABCG5 | Achchuthan Shanmugasundram Phenotypes for gene: ABCG5 were changed from to Sitosterolemia 2, OMIM:618666; sitosterolemia 2, MONDO:0020748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sitosterolaemia v0.1 | ABCG5 | Achchuthan Shanmugasundram reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sitosterolaemia v0.1 | ABCG5 |
Achchuthan Shanmugasundram gene: ABCG5 was added gene: ABCG5 was added to Sitosterolaemia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal |
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