| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Syndromic and non syndromic craniosynostosis involving midline sutures v1.1 | Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic and non syndromic craniosynostosis involving midline sutures v1.0 | Mafalda Gomes promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic and non syndromic craniosynostosis involving midline sutures v0.4 | Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic and non syndromic craniosynostosis involving midline sutures v0.3 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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| Syndromic and non syndromic craniosynostosis involving midline sutures v0.0 |
Achchuthan Shanmugasundram Added Panel Syndromic and non syndromic craniosynostosis involving midline sutures Set list of related panels to R416 Set panel types to: GMS Rare Disease |
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