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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 | FGF9 | Eleanor Williams Tag Q2_23_promote_green was removed from gene: FGF9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 | FGF9 | Eleanor Williams edited their review of gene: FGF9: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 | FGF9 |
Eleanor Williams Source Expert Review Green was added to FGF9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.30 | FGF9 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: FGF9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.30 | FGF9 | Achchuthan Shanmugasundram Classified gene: FGF9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.30 | FGF9 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are two unrelated cases and supporting functional evidence available for this gene. Hence, it can be promoted to GREEN at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.30 | FGF9 | Achchuthan Shanmugasundram Gene: fgf9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.29 | FGF9 | Achchuthan Shanmugasundram Phenotypes for gene: FGF9 were changed from to Multiple synostoses syndrome 3, OMIM:612961 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.28 | FGF9 | Achchuthan Shanmugasundram Publications for gene: FGF9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.27 | FGF9 | Achchuthan Shanmugasundram Mode of inheritance for gene: FGF9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.26 | FGF9 | Achchuthan Shanmugasundram reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 12140681, 19589401, 28730625; Phenotypes: Multiple synostoses syndrome 3, OMIM:612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 | FGF9 | Rebecca Tooze reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | FGF9 | Tracy Lester reviewed gene: FGF9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | FGF9 | Eleanor Williams reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | FGF9 |
Eleanor Williams gene: FGF9 was added gene: FGF9 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: FGF9 was set to |