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| Syndromic and non syndromic craniosynostosis involving midline sutures v1.2 | SMAD6 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #617439) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic and non syndromic craniosynostosis involving midline sutures v1.2 | SMAD6 | Achchuthan Shanmugasundram Phenotypes for gene: SMAD6 were changed from to {Craniosynostosis 7, susceptibility to}, OMIM:617439; craniosynostosis 7, MONDO:0044315 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic and non syndromic craniosynostosis involving midline sutures v0.1 | SMAD6 | Achchuthan Shanmugasundram changed review comment from: SMAD6 has been added to the panel for R416 Syndromic and non syndromic craniosynostosis involving midline sutures only with a green rating as agreed with the NHS Genomic Medicine Service.; to: SMAD6 has been added to the panel for R416 Syndromic and non syndromic craniosynostosis involving midline sutures with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic and non syndromic craniosynostosis involving midline sutures v0.1 | SMAD6 | Achchuthan Shanmugasundram reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic and non syndromic craniosynostosis involving midline sutures v0.1 | SMAD6 |
Achchuthan Shanmugasundram gene: SMAD6 was added gene: SMAD6 was added to Syndromic and non syndromic craniosynostosis involving midline sutures. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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