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| Elastin-related phenotypes v1.2 | ELN | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #123700 & #185500) and the OMIM records were last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Elastin-related phenotypes v1.2 | ELN | Achchuthan Shanmugasundram Phenotypes for gene: ELN were changed from to Cutis laxa, autosomal dominant, OMIM:123700; Supravalvar aortic stenosis, OMIM:185500; cutis laxa, autosomal dominant 1, MONDO:0007411; supravalvular aortic stenosis, MONDO:0008504 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Elastin-related phenotypes v0.1 | ELN | Achchuthan Shanmugasundram reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Elastin-related phenotypes v0.1 | ELN |
Achchuthan Shanmugasundram gene: ELN was added gene: ELN was added to Elastin-related phenotypes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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